Judith G Hall

MD, MSc, BA

Investigator Emerita, BC Children's Hospital

I am a pediatrician and clinical geneticist who has used the unusual patient to study gene action, natural history, and the recognition of non-traditional mechanisms of genetic disease. I have emphasized the tissue-specific and time-specific nature of gene expression as well as the changes of gene expression during embryonic/fetal/childhood development. I enjoy synthesizing complex genetic information and communicate to all levels of audience.



I have contributed in many leadership roles, including Presidency of the American Society of Human Genetics and the American Pediatrics Society, during which I reshaped their priorities and commitments. I’ve served on numerous national and international committees and boards and have received many honours for my scientific contributions and lifetime achievements. Among my publications are summary reviews and articles that are considered classics, having introduced aspects of the new genetics. I have advocated for folic acid supplementation, pediatric physician resources, the development of specific disease health guidelines, and research on rare genetic disorders and natural history.

Academic Affiliations

  • Professor Emeritus/a, Department of Pediatrics, Faculty of Medicine, University of British Columbia
  • Research Theme: Healthy Starts
  • Research Group(s): Origins of Child Health and Disease; Rare Diseases

Contact Information

Location

4500 Oak St, Vancouver, BC, Canada, V6H 3N1

lments de donnes communs pour l'arthrogrypose multiple congnitale: Un cadre international

Developmental Medicine and Child Neurology

Nematollahi, S. and Dieterich, K. and Filges, I. and De~Vries, J.I.P. and Van~Bosse, H. and Natera de Benito, D. and Hall, J.G. and Sawatzky, B. and Bedard, T. and Sanchez, V.C. and Navalon-Martinez, C. and Pan, T. and Hilton, C. and Dahan-Oliel, N.

DOI: 10.1111/dmcn.15915

My Journey With Arthrogryposis and Some of the People Who Made a Difference

American Journal of Medical Genetics Part C Seminars in Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.c.32121

Personal journeys to and in human genetics and dysmorphology

American Journal of Medical Genetics, Part A

Schwartz, C.E. and Aylsworth, A.S. and Allanson, J. and Battaglia, A. and Carey, J.C. and Curry, C.J. and Davies, K.E. and Eichler, E.E. and Graham, J.M. and Hall, B. and Hall, J.G. and Holmes, L.B. and Hoyme, H.E. and Hunter, A. and Innis, J. and Johnson, J. and Keppler-Noreuil, K.M. and Leroy, J.G. and Moore, C. and Nelson, D.L. and Neri, G. and Opitz, J.M. and Picketts, D. and Raymond, F.L. and Shalev, S.A. and Stevenson, R.E. and Stumpel, C.T.R.M. and Sutherland, G. and Viskochil, D.H. and Weaver, D.D. and Zackai, E.H.

DOI: 10.1002/ajmg.a.63514

Elementos de datos comunes para la artrogriposis mltiple congnita: Un marco internacional

Developmental Medicine and Child Neurology

Nematollahi, S. and Dieterich, K. and Filges, I. and De~Vries, J.I.P. and Van~Bosse, H. and Natera~de~Benito, D. and Hall, J.G. and Sawatzky, B. and Bedard, T. and Sanchez, V.C. and Navalon-Martinez, C. and Pan, T. and Hilton, C. and Dahan-Oliel, N.

DOI: 10.1111/dmcn.15914

Common data elements for arthrogryposis multiplex congenita: An international framework

Developmental Medicine and Child Neurology

Nematollahi, S. and Dieterich, K. and Filges, I. and De~Vries, J.I.P. and Van~Bosse, H. and Benito, D.N.-D. and Hall, J.G. and Sawatzky, B. and Bedard, T. and Sanchez, V.C. and Navalon-Martinez, C. and Pan, T. and Hilton, C. and Dahan-Oliel, N.

DOI: 10.1111/dmcn.15898

The importance of age-specific gene expression

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.63354

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5

American Journal of Medical Genetics, Part A

Oliwa, A. and Hendson, G. and Longman, C. and Synnes, A. and Seath, K. and Barnicoat, A. and Hall, J.G. and Patel, M.S.

DOI: 10.1002/ajmg.a.63019

Perspectives on the future of dysmorphology

American Journal of Medical Genetics, Part A

Solomon, B.D. and Adam, M.P. and Fong, C.-T. and Girisha, K.M. and Hall, J.G. and Hurst, A.C.E. and Krawitz, P.M. and Moosa, S. and Phadke, S.R. and Tekendo-Ngongang, C. and Wenger, T.L.

DOI: 10.1002/ajmg.a.63060

Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry

BMJ Open

Dahan-Oliel, N. and Van Bosse, H. and Darsaklis, V.B. and Rauch, F. and Bedard, T. and Bardai, G. and James, M. and Raney, E. and Freese, K. and Hyer, L. and Altiok, A. and Pellett, J. and Giampietro, P. and Hall, J. and Hamdy, R.C.

DOI: 10.1136/bmjopen-2021-060591

The contributions of careful clinical observations: A legacy

American Journal of Medical Genetics Part A

Judith G. Hall

DOI: 10.1002/ajmg.a.62342

11 / 2021

Deformations associated with arthrogryposis

American Journal of Medical Genetics Part A

Judith G. Hall

DOI: 10.1002/ajmg.a.62151

09 / 2021

The Clubfoot, Le Pied-Bot

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Judith G. Hall

DOI: 10.1002/ajmg.c.31862

06 / 2021

The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin"twin transfusion?

American Journal of Medical Genetics Part A

Judith G. Hall

DOI: 10.1002/ajmg.a.62172

06 / 2021

Northwest Indigenous Art and the Inspiring Spirits

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Judith G. Hall and Maile M. Taualii and Wedlidi Speck

DOI: 10.1002/ajmg.c.31890

06 / 2021

The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?

American Journal of Medical Genetics Part A

Judith G. Hall

DOI: 10.1002/ajmg.a.62177

06 / 2021

Examining the Vanishing Twin Hypothesis of Neural Tube Defects: Application of an Epigenetic Predictor for Monozygotic Twinning

Twin Research and Human Genetics

Van Dongen, J. and Gordon, S.D. and Odintsova, V.V. and McRae, A.F. and Robinson, W.P. and Hall, J.G. and Boomsma, D.I. and Martin, N.G.

DOI: 10.1017/thg.2021.25

Using the Term Amyoplasia Loosely Can Lead to Confusion.

American journal of human genetics

Hall JG

DOI: 10.1016/j.ajhg.2020.10.014 PubMed: 33275911

12 / 2020

The spectrum of brain malformations and disruptions in twins.

American journal of medical genetics. Part A

Park KB and Chapman T and Aldinger KA and Mirzaa GM and Zeiger J and Beck A and Glass IA and Hevner RF and Jansen AC and Marshall DA and Oegema R and Parrini E and Saneto RP and Curry CJ and Dobyns WB

DOI: 10.1002/ajmg.a.61972 PubMed: 33205886

11 / 2020

Continuing contributions of older academics

American Journal of Medical Genetics Part A

Judith G. Hall

DOI: 10.1002/ajmg.a.61946

11 / 2020

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

American journal of medical genetics. Part A

Adam AP and Curry CJ and Hall JG and Keppler-Noreuil KM and Adam MP and Dobyns WB

DOI: 10.1002/ajmg.a.61847 PubMed: 32924308

09 / 2020

50 Years Ago in THE JOURNAL OF PEDIATRICS: Arthrogryposis Multiplex Congenita: A Clinical Investigation

Journal of Pediatrics

Giampietro, P.F. and Hall, J.G.

DOI: 10.1016/j.jpeds.2019.08.022

A standardized autopsy protocol for arthrogryposis (multiple congenital contractures)

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Oberg, K.C. and Magaki, S. and Hall, J.G.

DOI: 10.1002/ajmg.c.31731

Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Dahan-Oliel, N. and van Bosse, H.J.P. and Bedard, T. and Darsaklis, V.B. and Hall, J.G. and Hamdy, R.C.

DOI: 10.1002/ajmg.c.31724

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Dahan-Oliel, N. and Cachecho, S. and Barnes, D. and Bedard, T. and Davison, A.M. and Dieterich, K. and Donohoe, M. and F?fara, A. and Hamdy, R. and Hjartarson, H.T. and S. Hoffman, N. and Kimber, E. and Komolkin, I. and Lester, R. and Pontn, E. and van Bosse, H.J.P. and Hall, J.G.

DOI: 10.1002/ajmg.c.31721

Collaborating to advance interdisciplinary care for individuals with arthrogryposis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Dahan-Oliel, N. and Hall, J.G.

DOI: 10.1002/ajmg.c.31741

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Dieterich, K. and Le Tanno, P. and Kimber, E. and Jouk, P.-S. and Hall, J. and Giampietro, P.

DOI: 10.1002/ajmg.c.31730

Fetal cervical hyperextension in arthrogryposis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.c.31727

Summary of the 3rd international symposium on arthrogryposis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Dahan-Oliel, N. and Hall, J. and Samargian, A. and Sawatzky, B. and van Bosse, H.

DOI: 10.1002/ajmg.c.31705

Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Sawatzky, B. and Dahan-Oliel, N. and Davison, A.-M. and Hall, J. and Van Bosse, H. and Mortenson, W.B.

DOI: 10.1002/ajmg.c.31706

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Filges, I. and Tercanli, S. and Hall, J.G.

DOI: 10.1002/ajmg.c.31723

Classification of arthrogryposis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Hall, J.G. and Kimber, E. and Dieterich, K.

DOI: 10.1002/ajmg.c.31716

Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants

Birth Defects Research

Radford, K. and Taylor, R.C. and Hall, J.G. and Gick, B.

DOI: 10.1002/bdr2.1424

Reader response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

Neurology

Sawatzky, B. and Hall, J.G.

DOI: 10.1212/WNL.0000000000007168

Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Dieterich, K. and Kimber, E. and Hall, J.G.

DOI: 10.1002/ajmg.c.31732

Gene ontology analysis of arthrogryposis (multiple congenital contractures)

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Kiefer, J. and Hall, J.G.

DOI: 10.1002/ajmg.c.31733

Development of a research platform for children with arthrogryposis multiplex congenita: Study protocol for a pilot registry

BMJ Open

Dahan-Oliel, N. and Bedard, T. and Darsaklis, V.B. and Hall, J.G. and Van Bosse, H.J.P. and Hamdy, R.C.

DOI: 10.1136/bmjopen-2017-021377

Twins and twinning

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Foundations

Umstad, M.P. and Calais-Ferreira, L. and Scurrah, K.J. and Hall, J.G. and Craig, J.M.

DOI: 10.1016/B978-0-12-812537-3.00014-7

Be prepared for prenatal diagnosis

European Journal of Human Genetics

Judith G Hall

DOI: 10.1038/ejhg.2017.67

06 / 2017

Background to the 2nd International Symposium on Arthrogryposis

Journal of Pediatric Orthopaedics

Lester, R. and Hall, J.G. and Pontn, E. and Van Bosse, H.J.P.

DOI: 10.1097/BPO.0000000000000996

Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita

American Journal of Medical Genetics, Part A

Nouraei, H. and Sawatzky, B. and MacGillivray, M. and Hall, J.

DOI: 10.1002/ajmg.a.38169

Genetics and classifications

Journal of Pediatric Orthopaedics

Hall, J.G. and Kimber, E. and Van Bosse, H.J.P.

DOI: 10.1097/BPO.0000000000000997

The Clinic Is My Laboratory: Life as a Clinical Geneticist

Annual Review of Genomics and Human Genetics

Hall, J.G.

DOI: 10.1146/annurev-genom-091416-035213

Reflections on an academic career

Molecular Genetics and Genomic Medicine

Hall, J.G.

DOI: 10.1002/mgg3.298

Pediatric Diseases and Epigenetics

Medical Epigenetics

Hall, J.G.

DOI: 10.1016/B978-0-12-803239-8.00023-5

Using the skills of academic elders

South African Medical Journal

Hall, J.G.

DOI: 10.7196/SAMJ.2016.v106i6.11023

Arthrogryposis as a Syndrome: Gene Ontology Analysis

Molecular Syndromology

Hall, J.G. and Kiefer, J.

DOI: 10.1159/000446617

The early history of Pallister"Hall syndrome"Buried treasure of a sort

Gene

Hall, J.G.

DOI: 10.1016/j.gene.2016.01.003

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification

American Journal of Medical Genetics, Part A

Hunter, J.M. and Kiefer, J. and Balak, C.D. and Jooma, S. and Ahearn, M.E. and Hall, J.G. and Baumbach-Reardon, L.

DOI: 10.1002/ajmg.a.36934

Arthrogryposis

Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach

Hall, J.G. and Vincent, A.

DOI: 10.1016/B978-0-12-417044-5.00007-X

Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17-19, 2014

American Journal of Medical Genetics, Part A

Hall, J.G. and Ogranovich, A. and Pontn, A. and van Bosse, H.J.P.

DOI: 10.1002/ajmg.a.36938

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Molecular Genetics and Genomic Medicine

Hunter, J.M. and Ahearn, M.E. and Balak, C.D. and Liang, W.S. and Kurdoglu, A. and Corneveaux, J.J. and Russell, M. and Huentelman, M.J. and Craig, D.W. and Carpten, J. and Coons, S.W. and Demello, D.E. and Hall, J.G. and Bernes, S.M. and Baumbach-Reardon, L.

DOI: 10.1002/mgg3.142

Judith G. Hall: a genetic journey

Genetics in medicine : official journal of the American College of Medical Genetics

Hall, J.G.

DOI: 10.1038/gim.2014.43

Erratum to Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17-19, 2014 [Am J Med Genet Part A, 167, 6, 1193-1195, (2015)]

American Journal of Medical Genetics, Part A

Hall, J.G. and Agranovich, O. and Pontn, E. and van Bosse, H.J.P.

DOI: 10.1002/ajmg.a.37219

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Clinical Genetics

Filges, I. and Nosova, E. and Bruder, E. and Tercanli, S. and Townsend, K. and Gibson, W.T. and Rthlisberger, B. and Heinimann, K. and Hall, J.G. and Gregory-Evans, C.Y. and Wasserman, W.W. and Miny, P. and Friedman, J.M.

DOI: 10.1111/cge.12301

Amyoplasia revisited

American Journal of Medical Genetics, Part A

Hall, J.G. and Aldinger, K.A. and Tanaka, K.I.

DOI: 10.1002/ajmg.a.36395

Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.36397

Fetal akinesia deformation sequence: Expanding the phenotypic spectrum

American Journal of Medical Genetics, Part A

Nayak, S.S. and Kadavigere, R. and Mathew, M. and Kumar, P. and Hall, J.G. and Girisha, K.M.

DOI: 10.1002/ajmg.a.36673

Gender and generational influences on the pediatric workforce and practice

Pediatrics

Spector, N.D. and Cull, W. and Daniels, S.R. and Gilhooly, J. and Hall, J. and Horn, I. and Marshall, S.G. and Schumacher, D.J. and Sectish, T.C. and Stanton, B.F.

DOI: 10.1542/peds.2013-3016

Epigenetics: What does it mean for paediatric practice?

Paediatrics and Child Health (Canada)

Hall, J.G.

DOI: 10.1093/pch/19.1.27

Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.36731

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

European Journal of Medical Genetics

Hall, J.G.

DOI: 10.1016/j.ejmg.2014.03.008

Pallister-Hall syndrome has gone the way of modern medical genetics

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.c.31419

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker Syndrome, and distal arthrogryposis type 5

American Journal of Human Genetics

McMillin, M.J. and Beck, A.E. and Chong, J.X. and Shively, K.M. and Buckingham, K.J. and Gildersleeve, H.I.S. and Aracena, M.I. and Aylsworth, A.S. and Bitoun, P. and Carey, J.C. and Clericuzio, C.L. and Crow, Y.J. and Curry, C.J. and Devriendt, K. and Everman, D.B. and Fryer, A. and Gibson, K. and Giovannucci Uzielli, M.L. and Graham Jr., J.M. and Hall, J.G. and Hecht, J.T. and Heidenreich, R.A. and Hurst, J.A. and Irani, S. and Krapels, I.P.C. and Leroy, J.G. and Mowat, D. and Plant, G.T. and Robertson, S.P. and Schorry, E.K. and Scott, R.H. and Seaver, L.H. and Sherr, E. and Splitt, M. and Stewart, H. and Stumpel, C. and Temel, S.G. and Weaver, D.D. and Whiteford, M. and Williams, M.S. and Tabor, H.K. and Smith, J.D. and Shendure, J. and Nickerson, D.A. and Bamshad, M.J.

DOI: 10.1016/j.ajhg.2014.03.015

Arthrogryposes (Multiple Congenital Contractures)

Emery and Rimoin S Principles and Practice of Medical Genetics

Hall, J.G.

DOI: 10.1016/B978-0-12-383834-6.00168-3

The role of patient advocacy/parent support groups

South African Medical Journal

Hall, J.G.

DOI: 10.7196/SAMJ.6976

Uterine structural anomalies and arthrogryposis-death of an urban legend

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.35683

Elements of morphology: General terms for congenital anomalies

American Journal of Medical Genetics, Part A

Hennekam, R.C. and Biesecker, L.G. and Allanson, J.E. and Hall, J.G. and Opitz, J.M. and Temple, I.K. and Carey, J.C.

DOI: 10.1002/ajmg.a.36249

An Ongoing Epidemic of Birth Defects

Pharmacology & Pharmacy

Gladys Cossio and Alberto Bissot and Mireya de Rivas and Luis Morales and Paul Gallardo and David Ellis and Judith Hal

DOI: 10.4236/pp.2013.43045

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys-dietz syndrome

American Journal of Medical Genetics, Part A

Rienhoff, H.Y. and Yeo, C.-Y. and Morissette, R. and Khrebtukova, I. and Melnick, J. and Luo, S. and Leng, N. and Kim, Y.-J. and Schroth, G. and Westwick, J. and Vogel, H. and Mcdonnell, N. and Hall, J.G. and Whitman, M.

DOI: 10.1002/ajmg.a.36056

The smallest of the small

Gene

Hall, J.G.

DOI: 10.1016/j.gene.2013.03.081

Trajectory of an academic career: The coming of age of academic pediatricians

JAMA Pediatrics

Hall, J.G.

DOI: 10.1001/jamapediatrics.2013.1189

Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.35788

Failure to identify antenatal multiple congenital contractures and fetal akinesia - proposal of guidelines to improve diagnosis

Prenatal Diagnosis

Filges, I. and Hall, J.G.

DOI: 10.1002/pd.4011

Obituary: Dr. David L. Rimoin

Clinical Genetics

Judith G. Hall

DOI: 10.1111/j.1399-0004.2012.01920.x

07 / 2012

We are failing to identify disorders of fetal movement - why?

Prenatal Diagnosis

Filges, I. and Hall, J.G.

DOI: 10.1002/pd.3944

Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.35531

Special section. Syndrome-specific growth charts

American Journal of Medical Genetics, Part A

Hall, J.G. and Allanson, J.E. and Gripp, K.W. and Slavotinek, A.M.

DOI: 10.1002/ajmg.a.35704

Over the years, I hope I've learned a few things to pass along!

Paediatrics & Child Health

Judith G Hall

DOI: 10.1093/pch/16.7.387

08 / 2011

Progress in the 'brave new world' of genetics

Acta Medica Philippina

Hall, J.G.

Foreword To The First Edition

Management of Genetic Syndromes: Third Edition

Hall, J.G.

DOI: 10.1002/9780470893159

Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding

Birth Defects Research Part A - Clinical and Molecular Teratology

Lowry, R.B. and Sibbald, B. and Bedard, T. and Hall, J.G.

DOI: 10.1002/bdra.20738

Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature - Are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.33251

Importance of muscle movement for normal craniofacial development

Journal of Craniofacial Surgery

Hall, J.G.

DOI: 10.1097/SCS.0b013e3181ebcd4f

New palpebral fissure measurements

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.33430

PHACE syndrome: Current knowledge, future directions

Pediatric Dermatology

Metry, D.W. and Garzon, M.C. and Drolet, B.A. and Frommelt, P. and Haggstrom, A. and Hall, J. and Hess, C.P. and Heyer, G.L. and Siegel, D. and Baselga, E. and Katowitz, W. and Levy, M.L. and Mancini, A. and Maronn, M.L. and Phung, T. and Pope, E. and Sun, G. and Frieden, I.J.

DOI: 10.1111/j.1525-1470.2009.00944.x

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited

Birth Defects Research Part A - Clinical and Molecular Teratology

Hall, J.G.

DOI: 10.1002/bdra.20611

Elements of morphology: Standard terminology for the nose and philtrum

American Journal of Medical Genetics, Part A

Hennekam, R.C.M. and Cormier-Daire, V. and Hall, J.G. and Mhes, K. and Patton, M. and Stevenson, R.E.

DOI: 10.1002/ajmg.a.32600

Ambulatory activity in youth with arthrogryposis: A cohort study

Journal of Pediatric Orthopaedics

Dillon, E.R. and Bjornson, K.F. and Jaffe, K.M. and Hall, J.G. and Song, K.

DOI: 10.1097/BPO.0b013e3181990214

Victor A. McKusick, M.D.: a clinician's clinician.

American journal of medical genetics. Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.32583

Victor A. McKusick, M.D.: A legend in his own time

Clinical Genetics

Judith G. Hall

DOI: 10.1111/j.1399-0004.2008.01095.x

09 / 2008

Multifactorial inheritance of non-syndromic macrocephaly

Clinical Genetics

L. Arbour and G. V. Watters and J. G. Hall and F. C. Fraser

DOI: 10.1111/j.1399-0004.1996.tb02349.x

06 / 2008

Letter to the Editors

Clinical Genetics

Judith G. Hall and Robert C. Hauck

DOI: 10.1111/j.1399-0004.1981.tb00699.x

04 / 2008

Three distinct types of X-linked arthrogryposis seen in 6 families

Clinical Genetics

J. G. Hall and S. D. Reed and C. I. Scott and J. O. Rogers and K. L. Jones and A. Camarano

DOI: 10.1111/j.1399-0004.1982.tb00742.x

04 / 2008

An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome)

Clinical Genetics

David Kurnit and Judith G. Hall and David B. Shurtleff and M. Michael Cohen Jr.

DOI: 10.1111/j.1399-0004.1979.tb01006.x

04 / 2008

Localized acalvaria with craniosynostosis

Clinical Dysmorphology

Faqeih, E. and Patay, Z. and Rahbeeni, Z. and Murtada, J. and Al Shail, E. and Hall, J.G.

DOI: 10.1097/MCD.0b013e3282f4a10e

50 Years Ago in The Journal of Pediatrics. Studies in human reproduction, III. The frequency of congenital malformations in the offspring of nondiabetic and diabetic individuals

Journal of Pediatrics

Hall, J.G.

DOI: 10.1016/j.jpeds.2008.05.007

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

American Journal of Human Genetics

Klopocki, E. and Schulze, H. and Strau, G. and Ott, C.-E. and Hall, J. and Trotier, F. and Fleischhauer, S. and Greenhalgh, L. and Newbury-Ecob, R.A. and Neumann, L.M. and Habenicht, R. and Knig, R. and Seemanova, E. and Megarbane, A. and Ropers, H.-H. and Ullmann, R. and Horn, D. and Mundlos, S.

DOI: 10.1086/510919

Achondroplasia

Lancet

Horton, W.A. and Hall, J.G. and Hecht, J.T.

DOI: 10.1016/S0140-6736(07)61090-3

Recommendations of the 2006 Human Variome Project meeting

Nature Genetics

Cotton, R.G.H. and Appelbe, W. and Auerbach, A.D. and Becker, K. and Bodmer, W. and Boone, D.J. and Boulyjenkov, V. and Brahmachari, S. and Brody, L. and Brookes, A. and Brown, A.F. and Byers, P. and Maria Cantu, J. and Cassiman, J.-J. and Claustres, M. and Concannon, P. and Cotton, R.G.H. and Den Dunnen, J.T. and Flicek, P. and Gibbs, R. and Hall, J. and Hasler, J. and Katz, M. and Kwok, P.-Y. and Laradi, S. and Lindblom, A. and Maglott, D. and Marsh, S. and Masimirembwa, C.M. and Minoshima, S. and De Ramirez, A.M.O. and Pagon, R. and Ramesar, R. and Ravine, D. and Richards, S. and Rimoin, D. and Ring, H.Z. and Scriver, C.R. and Sherry, S. and Shimizu, N. and Stein, L. and Tadmouri, G.O. and Taylor, G. and Watson, M.

DOI: 10.1038/ng2024

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

Journal of Medical Genetics

Rajcan-Separovic, E. and Harvard, C. and Liu, X. and McGillivray, B. and Hall, J.G. and Qiao, Y. and Hurlburt, J. and Hildebrand, J. and Mickelson, E.C.R. and Holden, J.J.A. and Lewis, M.E.S.

DOI: 10.1136/jmg.2006.045013

Arthrogryposis multiplex congenita (amyoplasia): An orthopaedic perspective

Journal of Pediatric Orthopaedics

Bevan, W.P. and Hall, J.G. and Bamshad, M. and Staheli, L.T. and Jaffe, K.M. and Song, K.

DOI: 10.1097/BPO.0b013e318070cc76

Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility

Fertility and Sterility

Weksberg, R. and Shuman, C. and Wilkins-Haug, L. and Mann, M. and Croughan, M. and Stewart, D. and Rakowsky, C. and Leader, A. and Hall, J. and Friedman, J.M. and Simpson, J.L. and Holmes, L. and Infante-Rivard, C.

DOI: 10.1016/j.fertnstert.2006.11.114

The importance of the fetal origins of adult disease for geneticists

Clinical Genetics

Hall, E.J.G.

DOI: 10.1111/j.1399-0004.2007.00842.x

Editorial independence for CMAJ: Signposts along the road,L'indpendance de la rdaction du JAMC: Des signes positifs

CMAJ

MacDonald, N. and Squires, B. and Hawkins, D. and Downie, J. and Aberman, A. and Armstrong, P.W. and Davidoff, F. and Detsky, A. and Hall, J. and Hennen, B. and Rouleau, J. and Roy, C. and Scott, J. and Stewart, D.

DOI: 10.1503/cmaj.060985

Festschrift reflection

American Journal of Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.a.31040

A meeting of minds: Interdisciplinary research in the health sciences in Canada

CMAJ

Hall, J.G. and Bainbridge, L. and Buchan, A. and Cribb, A. and Drummond, J. and Gyles, C. and Hicks, T.P. and McWilliam, C. and Paterson, B. and Ratner, P.A. and Skarakis-Doyle, E. and Solomon, P.

DOI: 10.1503/cmaj.060783

Preparing a manuscript for publication: A user-friendly guide

Paediatrics and Child Health

MacDonald, N.E. and Ford-Jones, L. and Friedman, J.N. and Hall, J.

DOI: 10.1093/pch/11.6.339

Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212-215] [10]

American Journal of Medical Genetics, Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.31301

Proteus syndrome: A syndrome named after a Greek god

Paediatiki

Hall JG. Proteus syndrome: A syndrome named after a Greek god. Paediatiki 69:221-222, 2006.

Epigenetics is here to stay

Journal of Pediatrics

Hall, J.G.

DOI: 10.1016/j.jpeds.2005.04.011

Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181-190] [4] (multiple letters)

American Journal of Medical Genetics

Hall, J.G. and Kantaputra, P.N. and Tanpaiboon, P.

DOI: 10.1002/ajmg.a.30633

Health supervision for children with achondroplasia

Pediatrics

Trotter, T.L. and Hall, J.G.

DOI: 10.1542/peds.2005-1440

Re: Distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.] [11]

American Journal of Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.a.30325

Primary disorders of bone and connective tissues

Textbook of Pediatric Rheumatology

Lindsley, C.B. and Petty, R.E. and Hall, J.G.

DOI: 10.1016/B978-1-4160-0246-8.50046-2

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family

American Journal of Medical Genetics

Shalev, S.A. and Spiegel, R. and Hall, J.G.

DOI: 10.1002/ajmg.a.30932

Pediatricians beware: The age of ARTs is upon us

Journal of Pediatrics

Hall, J.G.

DOI: 10.1016/j.jpeds.2005.01.041

The challenge of developing career pathways for senior academic pediatricians

Pediatric Research

Hall, J.G.

DOI: 10.1203/01.PDR.0000158014.46884.E5

Introductory speech for Robert J. Gorlin

American Journal of Human Genetics

Hall, J.G.

DOI: 10.1086/427837

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

American Journal of Medical Genetics

Judith G. Hall and Christina Flora and Charles I. Scott and Richard M. Pauli and Kimi I. Tanaka

DOI: 10.1002/ajmg.a.30203

Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinic

American Journal of Medical Genetics

Stavit A. Shalev and Judith G. Hall

DOI: 10.1002/ajmg.a.30192

Long-Term Follow-Up of Three Individuals with Kabuki Syndrome

American Journal of Medical Genetics

Shalev, S.A. and Clarke, L.A. and Koehn, D. and Langlois, S. and Zackai, E.H. and Hall, J.G. and McDonald McGinn, D.M.

DOI: 10.1002/ajmg.a.20375

How is the progress in genetics relevant to children's health care

Paediatrics and Child Health

Hall, J.G.

DOI: 10.1093/pch/9.4.213

Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: Further delineation and mutational analysis

Clinical Dysmorphology

Wechsler, S.B. and Lehoczky, J.A. and Hall, J.G. and Innis, J.W.

DOI: 10.1097/00019605-200404000-00002

Re: Terminology of fetal growth (multiple letters)

Paediatrics and Child Health

Chance, G. and Hall, J.G.

RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132-135.] [6]

American Journal of Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.a.30101

Client-centred assessment and the identification of meaningful treatment goals for individuals with a spinal cord injury

Spinal Cord

Donnelly, C. and Eng, J.J. and Hall, J. and Alford, L. and Giachino, R. and Norton, K. and Kerr, D.S.

DOI: 10.1038/sj.sc.3101589

Arthrogryposis multiplex and related congenital disorders

Handbook of Clinical Neurophysiology

Hall, J.G.

DOI: 10.1016/S1567-4231(04)04022-5

Re: Down syndrome and folic acid deficiency.

American journal of medical genetics. Part A

Hall, J.G.

DOI: 10.1002/ajmg.a.30364

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports

American Journal of Medical Genetics

Art Aylsworth and John M. Graham and Judith G. Hall and H. Eugene Hoyme and Kenneth Lyons Jones and Roger E. Stevenson

DOI: 10.1002/ajmg.a.10185

04 / 2003

Individualized medicine. What the genetic revolution will bring to health care in the 21st century?

Canadian Family Physician

Hall, J.G.

Poland anomaly - Report of an unusual family

American Journal of Medical Genetics

Shalev, S.A. and Hall, J.G.

DOI: 10.1002/ajmg.a.10145

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports [5] (multiple letters)

American Journal of Medical Genetics

Aylsworth, A. and Graham Jr., J.M. and Hall, J.G. and Hoyme, H.E. and Jones, K.L. and Stevenson, R.E. and Carey, J.C.

American Pediatric Society presidential address 2002: The third third

Pediatric Research

Hall, J.G.

DOI: 10.1203/01.PDR.0000052078.18329.D3

A clinician's plea

Nature Genetics

Hall, J.G.

DOI: 10.1038/ng0403-440

Open letter to Dana Hanson, President of the Canadian Medical Association regarding Quebec's Bill #114

Canadian Medical Association Journal

Armstrong PW, Cashman NR, Cook DJ, de Gruijl FR, Feeney DH, Ghali WA, Hall JG, Herbert CP, Iscoe N, Jadad AR, Kassirer J, McAlister FA, McGeer A, MacMillan HL, Moher D, Phillips S, Picard A, Redelmeier DA, Schechter MT, Veldhuyzen van Zanten S, Yusuf S.. Open letter to Dana Hanson, President of the Canadian Medical Association regarding Quebec's Bill #114, CMAJ 167:1230, 2003.

Morphogenesis: Clinical natural history and imaging information on patients included in reports [2]

Pediatric Radiology

Alysworth, A. and Graham, J. and Hall, J.G. and Hoyme, E. and Jones, K. and Stevenson, R.

DOI: 10.1007/s00247-002-0835-z

So you think your mother is always looking over your shoulder? - She may be in your shoulder!

Journal of Pediatrics

Hall, J.G.

DOI: 10.1067/mpd.2003.150

Twinning

Lancet

Hall, J.G.

DOI: 10.1016/S0140-6736(03)14237-7

Lifeline

The Lancet

Hall JG. Lifeline. Lancet. 362:1508, 2003.

Another adult with Meier-Gorlin syndrome - Insights into the natural history

Clinical Dysmorphology

Shalev, S.A. and Hall, J.G.

DOI: 10.1097/00019605-200307000-00003

Individualized medicine. What the genetic revolution will bring to health care in the 21st century

Canadian family physician Medecin de famille canadien

Hall, Judith G

Klinefelter syndrome: Expanding the phenotype and identifying new research directions

Genetics in Medicine

Simpson, J.L. and De La Cruz, F. and Swerdloff, R.S. and Samango-Sprouse, C. and Skakkebaek, N.E. and Graham Jr., J.M. and Hassold, T. and Aylstock, M. and Meyer-Bahlburg, H.F.L. and Willard, H.F. and Hall, J.G. and Salameh, W. and Boone, K. and Staessen, C. and Geschwind, D. and Giedd, J. and Dobs, A.S. and Rogol, A. and Brinton, B. and Alvin Paulsen, C.

DOI: 10.1097/01.GIM.0000095626.54201.D0

International nosology and classification of constitutional disorders of bone (2001)

American Journal of Medical Genetics

Christine M. Hall

DOI: 10.1002/ajmg.10828

11 / 2002

A letter from CMAJ's editorial board to the CMA [2] (multiple letters)

CMAJ

Armstrong, P.W. and Cashman, N.R. and Cook, D.J. and Feeny, D.H. and Ghali, W.A. and De Gruijl, F.R. and Hall, J.G. and Herbert, C.P. and Iscoe, N. and Jadad, A.R. and Kassirer, J.P. and McAlister, F.A. and McGeer, A.J. and MacMillan, H.L. and Moher, D. and Phillips, S. and Redelmeier, D.A. and Schechter, M.T. and Veldhuyzen van Zanten, S.J.O. and Yusuf, S. and Hanson, D.

The very youngest science

CMAJ

Sinclair, A. and Hall, J.

Detection of Y-specific sequences in patients with Turner syndrome [3]

American Journal of Medical Genetics

Hall, J.G. and Nishi, M.Y. and Domenice, S. and Medeiros, M.A. and Mendonca, B.B. and Billerbeck, A.E.C.

DOI: 10.1002/ajmg.10812

Don't use the term "amyoplasia" loosely [2]

American Journal of Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.10571

Clinical and radiologic information or photographs [1]

Pediatric Radiology

Hall, J.G.

DOI: 10.1007/s00247-002-0700-0

Paediatrician Resource Survey: Preliminary results suggest some urgency

Paediatrics & Child Health

Judith G Hall

DOI: 10.1093/pch/6.1.12

01 / 2001

When is careless conception a form of child abuse? Lessons from maternal phenylketonuria

Journal of Pediatrics

Hall, J.G.

DOI: 10.1016/S0022-3476(00)90042-8

Folic acid: The opportunity that still exists

CMAJ

Hall, J.G.

U-P- What?

The Journal of Pediatrics

Judith G. Hall

DOI: 10.1016/s0022-3476(99)70364-1

01 / 1999

Effect of a standard exercise protocol on shoulder pain in long-term wheelchair users

Spinal Cord

Curtis, K.A. and Tyner, T.M. and Zachary, L. and Lentell, G. and Brink, D. and Didyk, T. and Gean, K. and Hall, J. and Hooper, M. and Klos, J. and Lesina, S. and Pacillas, B.

DOI: 10.1038/sj.sc.3100860

Human diseases and genomic imprinting.

Results and problems in cell differentiation

Hall, J.G.

Human Diseases and Genomic Imprinting

Genomic Imprinting

Judith G. Hall

DOI: 10.1007/978-3-540-69111-2_6

See one, do one, teach one

Pediatrics

Hall, J.G.

DOI: 10.1542/peds.103.1.155

Oops - There won't be enough paediatric health care professionals in the next millennium

Paediatric Child Health

Hall JG. Editorial: Oops - There won't be enough paediatric health care professionals in the next millennium. Paed Child Health 4:245, 1999.

A bone is not a bone is not a bone

Journal of Pediatrics

Hall, J.G.

DOI: 10.1016/S0022-3476(98)70169-6

Folic acid for the prevention of congenital anomalies

European Journal of Pediatrics

Hall, J. and Solehdin, F.

DOI: 10.1007/s004310050850

International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone

American Journal of Medical Genetics

Rimoin, D.L. and Francomano, G.A. and Giedion, A. and Hall, C. and Kaitila, I. and Cohn, D. and Gorlin, R. and Hall, J. and Horton, W. and Krakow, D. and Le Merrer, M. and Lachman, R. and Mundlos, S. and Poznanski, A.K. and Sillence, D. and Spranger, J. and Warman, M. and Superti-Furga, A. and Wilcox, W.

International nomenclature and classification of the osteochondrodysplasias (1997)

Pediatric Radiology

Rimoin, D.L. and Francomano, C.A. and Giedion, A. and Hall, C. and Kaitila, I. and Cohn, D. and Gorlin, R. and Hall, J. and Horton, W. and Krakow, D. and Le Merrer, M. and Lachman, R. and Mundlos, S. and Posnanski, A.K. and Sillence, D. and Spranger, J. and Warman, M. and Superti-Furga, A. and Wilcox, W.

DOI: 10.1007/s002470050458

Genetics of neural tube defects

Mental Retardation and Developmental Disabilities Research Reviews

Hall, J.G. and Solehdin, F.

DOI: 10.1002/(SICI)1098-2779(1998)4:4u003C269::AID-MRDD6u003E3.0.CO;2-8

Folic acid: it's good preventive medicine

Contemporary Pediatrics

Hall JG and Solehdin F. Folic acid: it's good preventive medicine. Contemp Pediatr 15:119-135, 1998.

Folate and its various ramifications.

Advances in pediatrics

Hall, J.G. and Solehdin, F.

Photographic documentation of syndrome diagnosis

American Journal of Medical Genetics

Judith Allanson and Alasdair Hunter and Suzanne Cassidy and Cynthia Curry and Dian Donnai and Clarke Fraser and Robert Gorlin and John Graham and Bryan Hall and Judith Hall and Kenneth Lyons Jones and Roger Stevenson and Robin Winter

DOI: 10.1002/(sici)1096-8628(19970211)68:4u003C487::aid-ajmg25u003E3.0.co;2-n

02 / 1997

Mendel might get dizzy

CMAJ

Hall, J.G.

Mosaicism in pseudoachondroplasia

American Journal of Medical Genetics

Ferguson, H.L. and Deere, M. and Evans, R. and Rotta, J. and Hall, J.G. and Hecht, J.T.

DOI: 10.1002/(SICI)1096-8628(19970613)70:3u003C287::AID-AJMG14u003E3.0.CO;2-H

Photographic documentation of syndrome diagnosis.

American journal of medical genetics

Allanson, J. and Hunter, A. and Cassidy, S. and Curry, C. and Donnai, D. and Fraser, C. and Gorlin, R. and Graham, J. and Hall, B. and Hall, J. and Jones, K.L. and Stevenson, R. and Winter, R.

Give the embryo a chance

Nature Medicine

Hall, J.G.

DOI: 10.1038/nm0197-24

Genomic imprinting: Nature and clinical relevance

Annual Review of Medicine

Hall, J.G.

DOI: 10.1146/annurev.med.48.1.35

Arthrogryposis multiplex congenita: Etiology, Genetics, Classification, Diagnostic Approach, and General Aspects

Journal of Pediatric Orthopaedics Part B

Hall, J.G.

DOI: 10.1097/01202412-199707000-00002

The Impact of Birth Defects and Genetic Diseases

Archives of Pediatrics & Adolescent Medicine

Hall, J.G.

DOI: 10.1001/archpedi.1997.02170480012002

Uniparental Disomy

Hong Kong Journal of Paediatrics

Hall JG and Solehdin F. Uniparental Disomy. HK J Paediatr 2:3-8, 1997.

Terathanasia, folic acid, and birth defects (multiple letters) [4]

Lancet

Hall, J.G. and Burn, J. and Fisk, N.M. and Schorah, C.J. and Smithells, R.W. and Seller, M.J. and Hook, E.B.

DOI: 10.1016/S0140-6736(97)26044-7

Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins

Pediatric Radiology

Hall, J.G. and Lopez-Rangel, E.

DOI: 10.1007/s002470050160

Neonatal Personnel in Canada

Paediatric Child Health

McMillan D, Perreault T, Watanabe M, Chance G, Askin DF and Hall J. Neonatal Personnel in Canada. Paediatr Child Health. 2:193-198, 1997.

Road map for child and youth health into the 21st Century: Report on the 1997 Ross Conference

Paediatric Child Health

Hall JG. Road map for child and youth health into the 21st Century: Report on the 1997 Ross Conference. Pediatr Child Health 2:401-403, 1997.

Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients

American Journal of Medical Genetics

R. Brian Lowry and Richard L. Wesenberg and Judith G. Hall

DOI: 10.1002/(sici)1096-8628(19960503)63:1u003C55::aid-ajmg12u003E3.3.co;2-e

05 / 1996

Report from the workshop on Pallister-Hall syndrome and related phenotypes

American Journal of Medical Genetics

Biesecker, L.G. and Abbott, M. and Allen, J. and Clericuzio, C. and Feuillan, P. and Graham J.M., Jr. and Hall, J. and Kang, S. and Olney, A.H. and Lefton, D. and Neri, G. and Peters, K. and Verloes, A.

DOI: 10.1002/(SICI)1096-8628(19961002)65:1u003C76::AID-AJMG12u003E3.0.CO;2-O

The challenges and opportunities of times of change

American Journal of Human Genetics

Hall, J.G.

Arthrogryposis associated with unsuccessful attempts at termination of pregnancy

American Journal of Medical Genetics

Hall, J.G.

DOI: 10.1002/(SICI)1096-8628(19960503)63:1u003C293::AID-AJMG48u003E3.0.CO;2-G

Twins and twinning.

American journal of medical genetics

Hall, J.G.

DOI: 10.1002/(SICI)1096-8628(19960122)61:3u003C202::AID-AJMG2u003E3.0.CO;2-W

An introduction to genomic imprinting and parent of origin effects

Acta Geneticae Medicae et Gemellologiae

Hall, J.G. and Lopez-Rangel, E.

DOI: 10.1017/S0001566000001100

Amyoplasia, the most common type of arthrogryposis: The potential for good outcome

Pediatrics

Sells, J.M. and Jaffe, K.M. and Hall, J.G.

Twinning: Mechanisms and genetic implications

Current Opinion in Genetics and Development

Hall, J.G.

DOI: 10.1016/S0959-437X(96)80012-8

Genomic imprinting.

Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui

Hall, J.G. and Solehdin, F.

Embryologic development and monozygotic twinning

Acta Geneticae Medicae et Gemellologiae

Hall, J.G. and Lopez-Rangel, E.

DOI: 10.1017/S0001566000001094

Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis

Journal of Pediatric Orthopaedics

Szke, G. and Staheli, L.T. and Jaffe, K. and Hall, J.G.

DOI: 10.1097/00004694-199601000-00026

Segregation analysis of microcephaly

American Journal of Medical Genetics

Cohen, T. and Zeitune, M. and McGillivray, B.C. and Hall, J.G. and Lynn, A.H. and Aston, C.E. and Chakravarti, A.

DOI: 10.1002/(SICI)1096-8628(19961028)65:3u003C226::AID-AJMG11u003E3.0.CO;2-Q

New mechanisms for genetic disease and nontraditional modes of inheritance.

Advances in pediatrics

Langlois, S. and Lopez-Rangel, E. and Hall, J.G.

Information update on Achondroplasia [7]

Pediatrics

Hall, J.G.

Information Update on Achondroplasia

Pediatrics

Hall, Judith G.

Health supervision for children with Turner syndrome

Pediatrics

Seashore, M.R. and Cho, S. and Desposito, F. and Sherman, J. and Wappner, R.S. and Wilson, M.G. and De la Cruz, F. and Hanson, J.W. and Lin-Fu, J. and McDonough, P.G. and Oakley, G. and Pletcher, B.A. and Hall, J. and Mennuti, M. and Weiss, L.

Dominant distal arthrogryposis in a Maori family with marked variability of expression

American Journal of Medical Genetics

Klemp, P. and Hall, J.G.

DOI: 10.1002/ajmg.1320550406

Mouse homologues of human hereditary disease.

Journal of Medical Genetics

A G Searle and J H Edwards and J G Hall

DOI: 10.1136/jmg.31.1.1

01 / 1994

Health supervision for children with Down syndrome

Pediatrics

Seashore, M.R. and Cho, S. and Desposito, F. and Sherman, J. and Wappner, R.S. and Wilson, M.G. and De la Cruz, F. and Hanson, J.W. and Lin-Fu, J. and Mennuti, M. and Oakley, G. and Pletcher, B.A. and Hall, J.G. and McCabe, E.R.B. and Weiss, L.

Recommendations for diagnosis, treatment, and management of individuals with tumer syndrome

Endocrinologist

Rosenfeld, R.G. and Tesch, L.G. and Rodriguez-Rigau, L.J. and McCauley, E. and Albertsson-Wikland, K. and Asch, R. and Cara, J. and Conte, F. and Hall, J.G. and Lippe, B. and Nagel, T.C. and Neely, E.K. and Page, D.C. and Ranke, M. and Saenger, P. and Watkins, J.M. and Wilson, D.M.

DOI: 10.1097/00019616-199409000-00006

Neural tube defects. Introduction.

Ciba Foundation symposium

Hall, J.G.

Mouse homologues of human hereditary disease

Journal of Medical Genetics

Searle, A.G. and Edwards, J.H. and Hall, J.G.

Non-traditional forms of inheritance in skeletal dysplasias

Pediatric Radiology

Hall, J.G. and Lopez-Rangel, E.

DOI: 10.1007/BF02011905

Neural tube defects in British Columbia

The Lancet

Chambers, K. and Popkin, J. and Arnold, W. and Irwin, B. and Hall, JudithG.

DOI: 10.1016/S0140-6736(94)92743-X

Current management of meningomyelocele

BC Medical Journal

Chambers GK, Hall JG, Cochrane DD and Arnold WJD. Current management of meningomyelocele, BC Med J 36:732-4, 1994.

Prenatal Genetic Diagnosis for Pediatricians

Pediatrics

,

Arthrogryposis, ophthalmoplegia, and retinopathy: Confirmation of a new type of arthrogryposis

Journal of Medical Genetics

Schrander-Stumpel, C.T.R.M. and Howeler, C.J. and Reekers, A.B.A. and De Smet, N.M.A.F.A. and Hall, J.G. and Fryns, J.-P.

DOI: 10.1136/jmg.30.1.78

Evidence for multi-site closure of the neural tube in humans

American Journal of Medical Genetics

Van Allen, M.I. and Kalousek, D.K. and Chernoff, G.F. and Juriloff, D. and Harris, M. and McGillivray, B.C. and Yong, S.-L. and Langlois, S. and MacLeod, P.M. and Chitayat, D. and Friedman, J.M. and Wilson, R.D. and McFadden, D. and Pantzar, J. and Ritchie, S. and Hall, J.G.

DOI: 10.1002/ajmg.1320470528

Newborn screening for congenital hypothyroidism: Recommended guidelines

Pediatrics

LaFranchi, S. and Dussault, J.H. and Fisher, D.A. and Foley Jr., T.P. and Mitchell, M.L. and Seashore, M.R. and Cho, S. and Desposito, F. and Hall, J.G. and Sherman, J. and Wilson, M.G. and De la Cruz, F. and Hanson, J.W. and Lin-Fu, J. and Mennuti, M. and Oakley, G. and Mitchell, M.L. and Spencer, C.A. and Rallison, M.L.

Folic acid for the prevention of neural tube defects

Pediatrics

Seashore, M.R. and Cho, S. and Desposito, F. and Hall, J.G. and Sherman, J. and Wilson, M.G. and Hanson, J.W. and Mennuti, M. and Oakley, G. and Pletcher, B.

Genomic imprinting: summary of an NICHD conference.

American journal of medical genetics

Wilson, G.N. and Hall, J.G. and de la Cruz, F.

DOI: 10.1002/ajmg.1320460614

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

Clinical Genetics

Rizzo, R. and Pavone, L. and Micali, G. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1993.tb03832.x

CATCH 22

Journal of Medical Genetics

Hall, J.

DOI: 10.1136/jmg.30.10.801

Preface

Pediatric Clinics of North America

Hall, J.G.

DOI: 10.1016/s0031-3955(16)38258-x

Genomic imprinting and its clinical implications

New England Journal of Medicine

Hall, J.G.

DOI: 10.1056/NEJM199203193261210

International classification of osteochondrodysplasias

European Journal of Pediatrics

Beighton, P. and Giedion, A. and Gorlin, R. and Hall, J. and Horton, B. and Kozlowski, K. and Lachman, R. and Langer, L.O. and Maroteaux, P. and Poznanski, A. and Rimoin, D.L. and Sillence, D. and Spranger, J.

DOI: 10.1007/BF01959352

Fellowships and career development in dysmorphology and clinical genetics

Pediatric Clinics of North America

Graham Jr., J.M. and Curry, C.J.R. and Hoyme, H.E. and Stevenson, R.E. and Hall, J.G.

DOI: 10.1016/S0031-3955(16)38299-2

Molecular nosology of heritable disorders of connective tissue

American Journal of Medical Genetics

Beighton, P. and De Paepe, A. and Hall, J.G. and Hollister, D.W. and Pope, F.M. and Pyeritz, R.E. and Steinmann, B. and Tsipouras, P.

DOI: 10.1002/ajmg.1320420406

Fetal hypokinesia sequence caused by maternal autoimmune disorder? [5]

American Journal of Medical Genetics

Hennekam, R.C.M. and Rotteveel, J.J. and Hall, J.G.

DOI: 10.1002/ajmg.1320430630

Nontraditional inheritance

Pediatric Clinics of North America

Austin, K.D. and Hall, J.G.

DOI: 10.1016/S0031-3955(16)38298-0

Imprinting makes an impression

The Lancet

DOI: 10.1016/0140-6736(91)91036-t

08 / 1991

Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study

The Lancet

DOI: 10.1016/0140-6736(91)90133-a

07 / 1991

Policy statement concerning DNA banking and molecular genetic diagnosis. Canadian College of Medical Geneticists

Clinical and investigative medicine. Medecine clinique et experimentale

Hall, J and Hamerton, J and Hoar, D and Korneluk, R and Ray, P and Rosenblatt, D and Wood, S

Congenital Anomalies: An Increasingly Important Cause of Mortality and Workload in a Neonatal intensive Care Unit

American Journal of Perinatology

Ling, E.W. and Sosuan, L.C. and Hall, J.C.

DOI: 10.1055/s-2007-999369

Neurofibromatosis I: Predicting the relation of gene structure to gene function

American Journal of Medical Genetics

Hall, J.G. and Allanson, J.E.

DOI: 10.1002/ajmg.1320380128

Genomic imprinting

Current Opinion in Genetics and Development

Hall, J.G.

DOI: 10.1016/0959-437X(91)80038-N

A new form of autosomal dominant arthrogryposis

Journal of Medical Genetics

Lai, M.M.R. and Tettenborn, M.A. and Hall, J.G. and Smith, L.J. and Berry, A.C.

DOI: 10.1136/jmg.28.10.701

Syndrome of mental retardation and distal arthrogryposis in sibs

American Journal of Medical Genetics

Chitayat, D. and Hodgkinson, K.A. and Blaichman, S. and Chen, M.-F. and Watters, G.V. and Khalife, S. and Hall, J.G.

DOI: 10.1002/ajmg.1320410114

Policy statement concerning DNA banking and molecular genetic diagnosis

Clinical and Investigative Medicine

Hall, J. and Hamerton, J. and Hoar, D. and Korneluk, R. and Ray, P. and Rosenblatt, D. and Wood, S.

Genomic imprinting, monozygous twinning, and X inactivation

The Lancet

Lubinsky, MarkS. and Hall, JudithG.

DOI: 10.1016/0140-6736(91)92956-3

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

Human Genetics

Korenberg, J.R. and Kalousek, D.K. and Anneren, G. and Pulst, S.-M. and Hall, J.G. and Epstein, C.J. and Cox, D.R.

DOI: 10.1007/BF00204163

The new genetics and its relevance to orthopedics

Clinical Orthopaedics and Related Research

Hall, J.G.

DOI: 10.1097/00003086-199103000-00003

Genomic imprinting - review and relevance to human diseases

American Journal of Human Genetics

Hall JG. Genomic imprinting - review and relevance to human diseases. AJHG 46:857-873, 1990.

PubMed: 2187341

05 / 1990

A sibship with Roberts/SC phocomelia syndrome

American Journal of Medical Genetics

Holmes-Siedle, M. and Seres-Santamaria, A. and Crocker, M. and Hall, J.G. and Crouchman, M.

DOI: 10.1002/ajmg.1320370106

How imprinting is relevant to human disease

Development

Hall, J.G.

Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: Apparently new syndrome?

American Journal of Medical Genetics

Chitayat, D. and McGillivray, B.C. and Rothstein, R. and Flodmark, O. and Priddy, R.W. and Ebelt, V.J. and Lirenman, D.S. and Hall, J.G.

DOI: 10.1002/ajmg.1320350318

Could acrocallosal syndrome and Greig syndrome affect the same developmental gene?

American Journal of Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.1320360331

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction

The Journal of Pediatrics

Pike, M.G. and Applegarth, D.A. and Dunn, H.G. and Bamforth, S.J. and Tingle, A.J. and Wood, B.J. and Dimmick, J.E. and Harris, H. and Chantler, J.K. and Hall, J.G.

DOI: 10.1016/S0022-3476(05)81651-8

The SNATIATION reflex

Journal of Medical Genetics

Hall, J.G.

DOI: 10.1136/jmg.27.4.275

Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells (I)

American Journal of Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.1320360332

Unilateral disomy as a possible explanation for Russell-Silver syndrome

Journal of Medical Genetics

Hall, J.G.

DOI: 10.1136/jmg.27.2.141-a

Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs

American Journal of Medical Genetics

Chitayat, D. and Hall, J.G. and Couch, R.M. and Phang, M.S. and Baldwin, V.J.

DOI: 10.1002/ajmg.1320370116

Genomic imprinting: Review and relevance to human diseases

American Journal of Human Genetics

Hall, J.G.

Turner syndrome and its variants

Pediatric Clinics of North America

Hall, J.G. and Gilchrist, D.M.

DOI: 10.1016/S0031-3955(16)37018-3

Somatic and germ-line mosaicism in autosomal dominant antecubital pterygium

Clinical Genetics

Hall, J.

DOI: 10.1111/j.1399-0004.1990.tb03496.x

A retrospective study of pregnancy complications among 828 cases of arthrogryposis

Genetic Counseling

Fahy, M.J. and Hall, J.G.

Three-generation dominant transmission of the Silver-Russell syndrome

American Journal of Medical Genetics

Duncan, P.A. and Hall, J.G. and Shapiro, L.R. and Vibert, B.K.

DOI: 10.1002/ajmg.1320350220

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome

American Journal of Medical Genetics

Chitayat, D. and Rothchild, A. and Ling, E. and Friedman, J.M. and Couch, R.M. and Yong, S.-L. and Baldwin, V.J. and Hall, J.G.

DOI: 10.1002/ajmg.1320360412

Angelman's syndrome, abnormality of 15q11-13, and imprinting

Journal of Medical Genetics

Hall, J.G.

DOI: 10.1136/jmg.27.2.141

DETECTING MATERNAL CELL CONTAMINATION IN PRENATAL DIAGNOSIS

The Lancet

Craig, I. and Ross, M. and Edwards, JohnH. and Fraser, N. and Hall, J.

DOI: 10.1016/S0140-6736(89)92468-9

Trisomy 11q: Features and prognosis

JAMA

Chitayat D and Hall JG. Trisomy 11q: Features and prognosis. JAMA, 261:22, 1989.

Congenital shortness of the costocoracoid ligament

American Journal of Medical Genetics

Bamforth, J.S. and Bell, M.H. and Hall, J.G. and Salter, R.B.

DOI: 10.1002/ajmg.1320330404

Chromosome maps of man and mouse. IV

Annals of Human Genetics

SEARLE, A.G. and PETERS, J. and LYON, M.F. and HALL, J.G. and EVANS, E.P. and EDWARDS, J.H. and BUCKLE, V.J.

DOI: 10.1111/j.1469-1809.1989.tb01777.x

Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet

Clinical Genetics

Chitayat, D. and Davis, E.B. and McGillivray, B.C. and Hayden, M.R. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1989.tb02923.x

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome

American Journal of Medical Genetics

Bamforth, J.S. and Leonard, C.O. and Chodirker, B.N. and Chitayat, D. and Gritter, H.L. and Evans, J.A. and Keena, B. and Pantzar, T. and Friedman, J.M. and Hall, J.G.

DOI: 10.1002/ajmg.1320320120

Multicentre randomised clinical trial of chorion villus sampling and amniocentesis

Lancet

Wilson, D. and McGillivray, B. and Kalousek, D. and Ganshorn, C. and Hall, J. and Olley, P. and Bowen, P. and Tataryn, I. and Choi, M. and Reid, D. and Pyatt, Z. and Rudd, N. and Carson, G. and Cox, D. and Klimek, M.L. and Evans, J. and Hamerton, J. and Ray, M. and MacDonald, K.

Joubert's Syndrome Associated With Congenital Ocular Fibrosis and Histidinemia

Archives of Neurology

Appleton, R.E. and Jan, J.E. and Kennedy, R. and Chitayat, D. and Hall, J.G.

DOI: 10.1001/archneur.1989.00520410115035

Encephalocraniocutaneous lipomatosis

Neurofibromatosis

Bamforth S, Riccardi VM, Thiessen P, Chitayat D, Friedman J and Hall JG. Encephalocraniocutaneous lipomatosis. Neurofibromatosis 2:166-173, 1989.

PubMed: 2699567

De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome

American Journal of Medical Genetics

Chitayat, D. and Fagerstrom, C.L. and Kalousek, D.K. and Rootman, J. and Taylor, G.P. and Hall, J.G.

DOI: 10.1002/ajmg.1320320109

Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature

Neurofibromatosis

BAmforth, J.S.G. and Riccardi, V.M. and Thisen, P. and Chitayat, D. and Fried man, J.M. and Caruthers, J. and Hall, J.G.

Hydrocephalus in achondroplasia: The possible role of intracranial venous hypertension

Journal of Neurosurgery

Steinbok, P. and Hall, J. and Flodmark, O.

DOI: 10.3171/jns.1989.71.1.0042

The value of the study of natural history in genetic disorders and congenital anomaly syndromes.

Journal of Medical Genetics

J G Hall

DOI: 10.1136/jmg.25.7.434

07 / 1988

A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.

Journal of Medical Genetics

U G Froster-Iskenius and J R Waterson and J G Hall

DOI: 10.1136/jmg.25.2.104

02 / 1988

Comments on amyoplasia congenita-like condition and maternal malathion exposure: Is all amyoplasia amyoplasia?

Teratology

Hall, J.G.

DOI: 10.1002/tera.1420380515

Natural History of Human Chondrodysplasias

Pathology and Immunopathology Research

Judith G. Hall

DOI: 10.1159/000157099

Congenital abnormalities in two sibs exposed to valproic acid in utero

American Journal of Medical Genetics

Chitayat, D. and Farrell, K. and Anderson, L. and Hall, J.G.

DOI: 10.1002/ajmg.1320310214

A recessive form of congenital contractures and torticollis associated with malignant hyperthermia

Journal of Medical Genetics

Froster-Iskenius, U.G. and Waterson, J.R. and Hall, J.G.

The value of the study of natural history in genetic disorders and congenital anomaly syndromes

Journal of Medical Genetics

Hall, J.G.

Kyphosis in achondroplasia: Probably preventable

The Journal of Pediatrics

Hall, J.G.

DOI: 10.1016/S0022-3476(88)80157-4

Juvenile galactosialidosis in a white male: A new variant

American Journal of Medical Genetics

Chitayat, D. and Applegarth, D.A. and Lewis, J. and Dimmick, J.E. and McCormick, A.Q. and Hall, J.G.

DOI: 10.1002/ajmg.1320310423

Bleeding diathesis in Noonan syndrome: A common association

American Journal of Medical Genetics

Witt, D.R. and McGillivray, B.C. and Allanson, J.E. and Hughes, H.E. and Hathaway, W.E. and Zipursky, A. and Hall, J.G.

DOI: 10.1002/ajmg.1320310208

Mild expression of the Pfeiffer syndrome

Clinical Genetics

Hall, J.G.

DOI: 10.1111/j.1399-0004.1988.tb02853.x

International nosology of heritable disorders of connective tissue, Berlin, 1986

American Journal of Medical Genetics

Beighton, P. and De Paepe, A. and Danks, D. and Finidori, G. and Gedde-Dahl, T. and Goodman, R. and Hall, J.G. and Hillister, D.W. and Horton, W. and McKusick, V.A. and Opitz, J.M. and Pope, F.M. and Pyeritz, R.E. and Rimoin l., D. and Sillence, D. and Spranger, J.W. and Thompson, E. and Tsipouras, P. and Viljoen, D. and Winship, I.

DOI: 10.1002/ajmg.1320290316

Clinical, genetic, and epidemiological factors in neural tube defects

American Journal of Human Genetics

Hall, J.G. and Friedman, J.M. and Kenna, B.A. and Popkin, J. and Jawanda, M. and Arnold, W.

Clinical, genetic and epidemiological factors in neural tube defects

American Journal of Human Genetics

Judith G. Hall and J. M. Friedman and B A Kenna and Joel H. Popkin and Manveen Kaur Jawanda and Wolfgang Arnold

Review and hypotheses: Somatic mosaicism: Observations related to clinical genetics

American Journal of Human Genetics

Hall, J.G.

An unusual bandlike web in an infant with lethal multiple pterygium syndrome

American Journal of Medical Genetics

Froster-Iskenius, U.G. and Curry, C. and Philp, M. and Hall, J.G.

DOI: 10.1002/ajmg.1320300310

ABNORMALITIES OF CORPUS CALLOSUM IN PATIENTS WITH INHERITED METABOLIC DISEASES

The Lancet

Bamforth, F. and Bamforth, S. and Poskitt, K. and Applegarth, D. and Hall, J.

DOI: 10.1016/S0140-6736(88)90437-0

The natural history of achondroplasia.

Basic life sciences

Hall, J.G.

Familial limb deficiency

Clinical Genetics

Hoon, A. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1988.tb02851.x

Thrombocytopenia and absent radius (TAR) syndrome.

Journal of Medical Genetics

J G Hall

DOI: 10.1136/jmg.24.2.79

02 / 1987

Use of genetic counselling services for neural tube defects

American Journal of Medical Genetics

Sadovnick, A.D. and Baird, P.A. and Hall, J.G. and Keena, B.

DOI: 10.1002/ajmg.1320260407

Gonadal mosaicisms in pseudoachondroplasia

American Journal of Medical Genetics

Hall, J.G. and Dorst, J.P. and Rotta, J. and McKusick, V.A.

DOI: 10.1002/ajmg.1320280121

False Negative Results in Patients with Fra(X)(Q) Mental Retardation Taking Oral Vitamin Supplements

New England Journal of Medicine

Froster-Iskenius, U. and Hall, J.G. and Curry, C.J.R.

DOI: 10.1056/NEJM198704233161716

Dominantly inherited renal adysplasia

American Journal of Medical Genetics

McPherson, E. and Carey, J. and Kramer, A. and Hall, J.G. and Pauli, R.M. and Schimke, R.N. and Tasin, M.H.

DOI: 10.1002/ajmg.1320260413

Nosologic Grouping in Birth Defects

Human Genetics

J. M. Opitz and A. Czeizel and J. A. Evans and J. G. Hall and M. S. Lubinsky and J. W. Spranger

DOI: 10.1007/978-3-642-71635-5_49

Neuroleptic malignant syndrome (NMS): what are the genetic factors?

Canadian journal of psychiatry. Revue canadienne de psychiatrie

Bamforth, S. and Hall, J.G.

Thrombocytopenia and absent radius (TAR) syndrome

Journal of Medical Genetics

Hall, J.G.

GENETICS OF TUBEROUS SCLEROSIS

The Lancet

Hall, JudithG. and Byers, PeterH.

DOI: 10.1016/S0140-6736(87)90396-5

Cultural influences and neural tube defects in the East Indian Sikh population of British Columbia.

Birth defects original article series

Keena, B.A. and Jawanda, M. and Hall, J.G.

Thanatophoric dysplasia and cloverleaf skull.

American journal of medical genetics. Supplement

Langer Jr., L.O. and Yang, S.S. and Hall, J.G. and Sommer, A. and Kottamasu, S.R. and Golabi, M. and Krassikoff, N.

Thanatophoric dysplasia and cloverleaf skull

American Journal of Medical Genetics

Leonard O. Langer and S. Samuel Yang and Judith G. Hall and Annemarie Sommer and Sambasiva R. Kottamasu and Mahin Golabi and Natalie Krassikoff and John M. Opitz and Jay Bernstein

DOI: 10.1002/ajmg.1320280521

Nonimmune hydrops fetalis.

Pediatrics in review / American Academy of Pediatrics

McGillivray, B.C. and Hall, J.G.

DOI: 10.1542/pir.9-6-197

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature

American Journal of Medical Genetics

Witt, D.R. and Hoyme, H.E. and Zonana, J. and Manchester, D.K. and Fryns, J.P. and Stevenson, J.G. and Curry, C.J.R. and Hall, J.G.

DOI: 10.1002/ajmg.1320270412

Analysis of Pena Shokeir phenotype.

American journal of medical genetics

Hall, J.G.

DOI: 10.1002/ajmg.1320250112

Noonan syndrome: The changing phenotype

Obstetrical and Gynecological Survey

Allanson, J.E. and Hall, J.G. and Hughes, H.E. and Preus, M. and Witt, R.D.

DOI: 10.1097/00006254-198601000-00014

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk

American Journal of Medical Genetics

Reid, C.O.M.V. and Hall, J.G. and Anderson, C. and Bocian, M. and Carey, J. and Costa, T. and Curry, C. and Greenberg, F. and Horton, W. and Jones, M.

DOI: 10.1002/ajmg.1320240415

NEURAL TUBE DEFECTS, SEX RATIOS, AND X INACTIVATTON

The Lancet

Hall, JudithG.

DOI: 10.1016/S0140-6736(86)91460-1

Genetic Counseling

JAMA: The Journal of the American Medical Association

Hall, J.G.

DOI: 10.1001/jama.1986.03380150101028

Growth curves for height in Noonan syndrome

Clinical Genetics

Witt, D.R. and Keena, B.A. and Hall, J.G. and Allanson, J.E.

DOI: 10.1111/j.1399-0004.1986.tb00587.x

Familial breast cancer in males: A case report and review of the literature

Cancer

Kozak, F.K. and Hall, J.G. and Baird, P.A.

DOI: 10.1002/1097-0142(19861215)58:12u003C2736::AID-CNCR2820581230u003E3.0.CO;2-A

Risks to sibs of probands with neural tube defects: Data for clinic populations in British Columbia

American Journal of Medical Genetics

Keena, B. and Sadovnick, A.D. and Baird, P.A. and Hall, J.G.

DOI: 10.1002/ajmg.1320250320

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome)

American Journal of Medical Genetics

Froster-Iskenius, U. and McGillivray, B.C. and Dill, F.J. and Hall, J.G. and Herbst, D.S.

DOI: 10.1002/ajmg.1320230156

Studies of human achondroplasia: Oxidative metabolism in tissue culture cells

Teratology

Mackler, B. and Grace, R. and Davis, K.A. and Shepard, T.H. and Hall, J.G.

DOI: 10.1002/tera.1420330103

Fetal mortality in sibships of cases with neural tube defects

Clinical Genetics

Sadovnick, A.D. and Keena, B. and Baird, P.A. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1986.tb00512.x

Obstetric and gynecologic problems in women with chondrodystrophies

Obstetrics and Gynecology

Allanson, J.E. and Hall, J.G.

Medical Genetics

JAMA: The Journal of the American Medical Association

Hall, J.G.

DOI: 10.1001/jama.1985.03360160128032

Tuberous sclerosis: Case report and investigation of family members

Canadian Medical Association Journal

Wilson, R.D. and Hall, J.G. and McGillivray, B.C.

The study of heterogeneity and natural history--the importance of this type of research with chondrodystrophies as an example.

Progress in clinical and biological research

Hall, J.G.

Oculocerebrocutaneous syndrome

American Journal of Ophthalmology

Wilson, R.D. and Traverse, L. and Hall, J.G. and Flodmark, C.O. and Rootman, J.

DOI: 10.1016/0002-9394(85)90222-3

Chromosomal abnormalities associated with congenital contractures (arthrogryposis)

Clinical Genetics

Reed, S.D. and Hall, J.G. and Riccardi, V.M. and Aylsworth, A. and Timmons, C.

DOI: 10.1111/j.1399-0004.1985.tb02278.x

Genetic aspects of arthrogryposis

Clinical Orthopaedics and Related Research

Hall, J.G.

DOI: 10.1097/00003086-198504000-00006

Approach to multiple congenital anomaly syndromes

Seminars in Perinatology

Witt, D.R. and Hall, J.G.

Familial multiple exostoses--no chromosome 8 deletion observed.

American journal of medical genetics

Hall, J.G. and Wilson, R.D. and Kalousek, D. and Beauchamp, R.

DOI: 10.1002/ajmg.1320220328

An approach to malformation syndromes.

Progress in clinical and biological research

Hall, J.G.

Partial deletion of the short arm of chromosome 3 (3p25 3pter) Further delineation of the clinical phenotype

Clinical Genetics

Witt, D.R. and Biedermann, B. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1985.tb02283.x

Noonan phenotype associated with neurofibromatosis

American Journal of Medical Genetics

Allanson, J.E. and Hall, J.G. and Van Allen, M.I.

DOI: 10.1002/ajmg.1320210307

In utero movement and use of limbs are necessary for normal growth: a study of individuals with arthrogryposis.

Progress in clinical and biological research

Hall, J.G.

Growth analysis in clinical genetics.

Progress in clinical and biological research

Opitz, J.M. and Mendez, H.M. and Hall, J.G.

The lethal multiple pterygium syndromes

American Journal of Medical Genetics

Judith G. Hall

DOI: 10.1002/ajmg.1320170410

04 / 1984

Editorial comment: The lethal multiple pterygium syndromes

American Journal of Medical Genetics

Hall, J.G.

Vitamin A Teratogenicity

New England Journal of Medicine

Hall, J.G. and Goodman, D.S.

DOI: 10.1056/NEJM198409203111214

Diagnostic considerations in arthrogry-posis syndromes in South Africa

Clinical Genetics

Gericke, G.S. and Hall, J.G. and Nelson, M.M. and Beighton, P.H.

DOI: 10.1111/j.1399-0004.1984.tb00478.x

Craniofacial development in arthrogryposis (congenital contractures)

Birth Defects: Original Article Series

Hall, J.G.

Achondroplasia: Unexpected familial recurrence

American Journal of Medical Genetics

Reiser, C.A. and Pauli, R.M. and Hall, J.G.

DOI: 10.1002/ajmg.1320190206

Orthopaedic aspects of the trismus pseudocamptodactyly syndrome

Journal of Pediatric Orthopaedics

O?brien, P.J. and Gropper, P.T. and Tredwell, S.J. and Hall, J.G.

DOI: 10.1097/01241398-198408000-00016

Apnea and sudden unexpected death in infants with achondroplasia

The Journal of Pediatrics

Pauli, R.M. and Scott, C.I. and Wassman Jr., E.R. and Gilbert, E.F. and Leavitt, L.A. and Ver Hoeve, J. and Hall, J.G. and Partington, M.W. and Jones, K.L. and Sommer, A. and Feldman, W. and Langer, L.O. and Rimoin, D.L. and Hecht, J.T. and Lebovitz, R.

DOI: 10.1016/S0022-3476(84)81092-6

An approach to research on congenital contractures.

Birth defects original article series

Hall, J.G.

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

American Journal of Medical Genetics

Sillence, D.O. and Barlow, K.K. and Garber, A.P. and Hall, J.G. and Rimoin, D.L.

DOI: 10.1002/ajmg.1320170204

Vitamin A: A newly recognized human teratogen. Harbinger of things to come?

The Journal of Pediatrics

Hall, J.G.

DOI: 10.1016/S0022-3476(84)80423-0

Cytogenetic findings in over 2,000 amniocenteses

CMAJ

Allanson JE, McGillivray B, Hall JG, Shaw D and Kalousek DK. Cytogenetic findings in over 2,000 amniocenteses. CMAJ 129:846-849, 1983.

PubMed: 6225506

10 / 1983

Prenatal diagnosis of genetic osteochondrodysplasias.

American journal of medical genetics

Kelly, T.E. and Hall, J.G. and Horton, W. and Scott, C.I.

DOI: 10.1002/ajmg.1320160217

Part II. Amyoplasia: Twinning in amyoplasia. A specific type of arthrogryposis with an apparent excess of discordantly affected identical twins

American Journal of Medical Genetics

Hall, J.G. and Reed, S.D. and McGillivray, B.C. and Herrmann, J. and Partington, M.W. and Schinzel, A. and Shapiro, J. and Weaver, D.D.

DOI: 10.1002/ajmg.1320150408

Part I. Amyoplasia: A common sporadic condition with congenital contractures

American Journal of Medical Genetics

Hall, J.G. and Reed, S.D. and Driscoll, E.P.

DOI: 10.1002/ajmg.1320150407

Cytogenetic findings in over 2000 amniocenteses

Canadian Medical Association Journal

Allanson, J.E. and McGillivray, B.C. and Hall, J.G. and Shaw, D. and Kalousek, D.K.

Association between age of onset and parental inheritance in Huntington chorea.

American journal of medical genetics

Hall, J.G. and Te-Juatco, L.

DOI: 10.1002/ajmg.1320160218

Chromosome abnormalities and advanced maternal age

BC Medical Journal

Allanson J and Hall JG. Chromosome abnormalities and advanced maternal age. BCMJ 25:297-299, 1983.

Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis

Journal of the Neurological Sciences

Clarren, S.K. and Hall, J.G.

DOI: 10.1016/0022-510X(83)90112-0

Growth Curves for Height for Diastrophic Dysplasia, Spondyloepiphyseal Dysplasia Congenita, and Pseudoachondroplasia

American Journal of Diseases of Children

Horton, W.A. and Hall, J.G. and Scott, C.I. and Pyeritz, R.E. and Rimoin, D.L.

DOI: 10.1001/archpedi.1982.03970400034010

The distal arthrogryposes: Delineation of new entities: Review and nosologic discussion

American Journal of Medical Genetics

Hall, J.G. and Reed, S.D. and Greene, G.

DOI: 10.1002/ajmg.1320110208

Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and deletion 10q

Clinical Genetics

Larson, L.M. and Wasdahl, W.A. and Saumur, J.H. and Coleman, M.L. and Hall, J.G. and Dolan, C.R. and Schutta, C.J.

DOI: 10.1111/j.1399-0004.1982.tb00962.x

Errors of morphogenesis: Concepts and terms: Recommendations of an International Working Group

The Journal of Pediatrics

J. Spranger and K. Benirschke and J.G. Hall and W. Lenz and R.B. Lowry and J.M. Opitz and L. Pinsky and H.G. Schwarzacher and D.W. Smith

DOI: https://doi.org/10.1016/S0022-3476(82)80261-8

Teratogens associated with congenital contractures in humans and in animals

Teratology

Hall, J.G. and Reed, S.D.

DOI: 10.1002/tera.1420250207

Limb pterygium syndromes: A review and report of eleven patients

American Journal of Medical Genetics

Hall, J.G. and Reed, S.D. and Rosenbaum, K.N. and Gershanik, J. and Chen, H. and Wilson, K.M.

DOI: 10.1002/ajmg.1320120404

Errors of morphogenesis: Concepts and terms. Recommendations of an International Working Group

The Journal of Pediatrics

Spranger, J. and Benirschke, K. and Hall, J.G. and Lenz, W. and Lowry, R.B. and Opitz, J.M. and Pinsky, L. and Schwarzacher, H.G. and Smith, D.W.

DOI: 10.1016/S0022-3476(82)80261-8

Head growth in achondroplasia: use of ultrasound studies.

American journal of medical genetics

Hall, J.G. and Horton, W. and Kelly, T. and Scott, C.I.

DOI: 10.1002/ajmg.1320130116

An approach to congenital contractures (arthrogryposis)

Pediatric Annals

Hall JG. An approach to congenital contractures (arthrogryposis). Ped Ann 10:15-26, 1981.

PubMed: 7022342

07 / 1981

Short-limbed dwarfism: ultrasonographic diagnosis by mensuration of fetal femoral length.

Radiology

R A Filly and M S Golbus and J C Carey and J G Hall

DOI: 10.1148/radiology.138.3.7465842

03 / 1981

Comments on the Neu-Laxova syndrome and CAD complex.

American journal of medical genetics

Scott, C.I. and Louro, J.M. and Laurence, K.M. and Tolarov, M. and Hall, J.G. and Reed, S. and Curry, C.J.

DOI: 10.1002/ajmg.1320090211

Possible maternal and hormonal factors in neurofibromatosis.

Advances in neurology

Hall, J.G.

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1q24 in different offspring

American Journal of Medical Genetics

Williamson, R.A. and Donlan, M.A. and Dolan, C.R. and Thuline, H.C. and Harrison, M.T. and Hall, J.G.

DOI: 10.1002/ajmg.1320090204

An approach to congenital contractures (arthrogryposis).

Pediatric Annals

Hall, J.G.

The prenatal diagnosis and management of a hepatoomphalocele

American Journal of Obstetrics and Gynecology

Didolkar, S.M. and Hall, J. and Phelan, J. and Gutberlett, R. and Hill, J.L.

DOI: 10.1016/S0002-9378(16)32597-2

Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome

American Journal of Medical Genetics

Breslau, E.J. and Disteche, C. and Hall, J.G. and Thuline, H. and Cooper, P.

DOI: 10.1002/ajmg.1320100211

Diastrophic dysplasia: the death of a variant

Radiology

Lachman, R. and Sillence, D. and Rimoin, D. and Horton, W. and Hall, J. and Scott, C. and Spranger, J. and Langer, L.

DOI: 10.1148/radiology.140.1.6787663

The physiology of intestinal immunity.

Advances in Experimental Medicine and Biology

Hall, J.G.

Short-limbed dwarfism: Ultrasonographic diagnosis by mensuration of fetal femoral length

Radiology

Filly, R.A. and Golbus, M.S. and Carey, J.C. and Hall, J.G.

Problems in diagnosing neurofibromatosis.

Advances in neurology

Fitzpatrick, T.B. and Eldridge, R. and Hall, J.G. and Riccardi, V.M. and Rubenstein, A.E. and Miller, R.W. and Mulvihill, J.J. and Knudson Jr., A.G. and Bader, J.L.

Prenatal diagnosis of inherited skin diseases

Birth Defects: Original Article Series

Hall, J.G.

Kaufman syndrome

American Journal of Medical Genetics

Hall, J.G.

DOI: 10.1002/ajmg.1320080405

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - A new syndrome? Part II: Neuropathological considerations

American Journal of Medical Genetics

Clarren, S.K. and Alvord Jr., E.C. and Hall, J.G.

DOI: 10.1002/ajmg.1320070111

Maternal and fetal sequelae of anticoagulation during pregnancy

The American Journal of Medicine

Hall, J.G. and Pauli, R.M. and Wilson, K.M.

DOI: 10.1016/0002-9343(80)90181-3

Lip Pits, Cleft Lip and/or Palate, and Congenital Heart Disease

American Journal of Diseases of Children

Pauli, R.M. and Hall, J.G.

DOI: 10.1001/archpedi.1980.02130150047012

Genetic counseling for adoptees at risk for specific inherited disorders

American Journal of Medical Genetics

Gilbert S. Omenn and Judith G. Hall and Kenneth D. Hansen

DOI: 10.1002/ajmg.1320050209

X-Linked Cutis Laxa: Defective Cross-Link Formation in Collagen Due to Decreased Lysyl Oxidase Activity

New England Journal of Medicine

Byers, P.H. and Siegel, R.C. and Holbrook, K.A. and Narayanan, A.S. and Bornstein, P. and Hall, J.G.

DOI: 10.1056/NEJM198007103030201

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - A new syndrome? Part I: Clinical, causal, and pathogenetic considerations

American Journal of Medical Genetics

Hall, J.G. and Pallister, P.D. and Clarren, S.K. and Beckwith, J.B. and Wiglesworth, F.W. and Fraser, F.C. and Cho, S. and Benke, P.J. and Reed, S.D.

DOI: 10.1002/ajmg.1320070110

Prenatal genetic diagnosis and elective abortion in women over 35: Utilization and relative impact on the birth prevalence of Down syndrome in Washington state

American Journal of Medical Genetics

Luthy, D.A. and Emanuel, I. and Hoehn, H. and Hall, J.G. and Powers, E.K.

DOI: 10.1002/ajmg.1320070320

Autosomal recessive acrocephalosyndactyly revisited

American Journal of Medical Genetics

Hall, J.G. and Reed, S.D. and Sells, C.J. and Hanson, J.W.

DOI: 10.1002/ajmg.1320050413

Gardner syndrome and periampullary malignancy

American Journal of Medical Genetics

Pauli, R.M. and Pauli, M.E. and Hall, J.G.

DOI: 10.1002/ajmg.1320060305

Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome

American Journal of Medical Genetics

Ray, R. and Zorn, E. and Kelly, T. and Hall, J.G. and Sommer, A.

DOI: 10.1002/ajmg.1320070413

Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome)

American Journal of Medical Genetics

Jennings, M. and Hall, J.G. and Hoehn, H.

DOI: 10.1002/ajmg.1320070404

Risks of anticoagulation during pregnancy

American Heart Journal

Pauli, R.M. and Hall, J.G. and Wilson, K.M.

DOI: 10.1016/0002-8703(80)90249-5

Endocardial fibroelastosis, neurologic dysfunction and unusal facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly

American Journal of Medical Genetics

Jennings, M.T. and Hall, J.G. and Kukolich, M.

DOI: 10.1002/ajmg.1320050309

Rothmund-Thomson Syndrome With Severe Dwarfism

American Journal of Diseases of Children

Hall, J.G. and Pagon, R.A. and Wilson, K.M.

DOI: 10.1001/archpedi.1980.02130140039013

Prenatal Diagnosis of Congenital Bullous Ichthyosiform Erythroderma (Epidermolytic Hyperkeratosis) by Fetal Skin Biopsy

New England Journal of Medicine

Golbus, M.S. and Sagebiel, R.W. and Filly, R.A. and Gindhart, T.D. and Hall, J.G.

DOI: 10.1056/NEJM198001103020205

Familial asymmetric crying facies

American Journal of Diseases of Children

Miller M and Hall JG. Familial asymmetric crying facies. AJDC 133:743-746, 1979.

07 / 1979

INHERITANCE OF TUBEROUS SCLEROSIS

The Lancet

Sybert, VirginiaP. and Hall, JudithG.

DOI: 10.1016/S0140-6736(79)91244-3

WARFARIN EMBRYOPATHY

The Lancet

Pauli, RichardM. and Hall, JudithG.

DOI: 10.1016/S0140-6736(79)90017-5

No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome

Clinical Genetics

Burns, J.L. and Hall, J.G. and Powers, E. and Callis, J.B. and Hoehn, H.

DOI: 10.1111/j.1399-0004.1979.tb02025.x

The summitt syndrome: Observations on a third case

American Journal of Medical Genetics

Clifford J. Sells and James W. Hanson and Judith G. Hall and Robert L. Summitt

DOI: 10.1002/ajmg.1320030108

Prenatal diagnosis of thrombocytopenia with absent radii

Clinical Genetics

Luthy, D.A. and Hall, J.G. and Graham, C.B.

DOI: 10.1111/j.1399-0004.1979.tb00831.x

More on Marker X Chromosomes, Mental Retardation and Macro-Orchidism

New England Journal of Medicine

Jacobs, P.A. and Mayer, M. and Rudak, E. and Gerrard, J. and Ives, E.J. and Shokeir, M.H.K. and Hall, J. and Jennings, M. and Hoehn, H.

DOI: 10.1056/NEJM197903293001320

Familial Asymmetric Crying Facies: Its Occurrence Secondary to Hypoplasia of the Anguli Oris Depressor Muscles

American Journal of Diseases of Children

Miller, M. and Hall, J.G.

DOI: 10.1001/archpedi.1979.02130070079017

Body wall defects with reduction limb anomalies: A report of fifteen cases

Birth Defects: Original Article Series

Pagon, R.A. and Stephens, T.D. and McGillivray, B.C. and Siebert, J.R. and Wright, V.J. and Hsu, L.L. and Poland, B.J. and Emanuel, I. and Hall, J.G.

Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal- spondyloperipheral dysplasia

Clinical Genetics

Sybert, V.P. and Byers, P.H. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1979.tb01755.x

The radiographic prenatal diagnosis of the generalized bone dysplasias and other skeletal abnormalities

Birth Defects: Original Article Series

Lachman, R. and Hall, J.G.

Posterolateral (Bochdalek's) Diaphragmatic Hernia in Sisters

American Journal of Diseases of Children

Pollack, L.D. and Hall, J.G.

DOI: 10.1001/archpedi.1979.02130110094019

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes

American Journal of Human Genetics

Pagon, R.A. and Hall, J.G. and Davenport, S.L.H. and Aase, J. and Norwood, T.H. and Hoehn, H.W.

DIAGNOSIS OF SHORT LIMBED DWARFISM BY ULTRASONIC MENSURATION OF FETAL FEMORAL LENGTH.

Filly, R.A. and Carey, J.C. and Hall, J.G.

Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) treatment with disodium etidronate

The Journal of Pediatrics

Hall, J.G. and Schaller, J.G. and Worsham, N.G. and Horning, M.R. and Staheli, L.T.

DOI: 10.1016/S0022-3476(79)80056-6

CARCINOEMBRYONIC ANTIGEN IN LIVER DISEASE

The Lancet

Hall, J.G.

DOI: 10.1016/S0140-6736(79)90092-8

Isolated congenital ectopia lentis with autosomal dominant inheritance

Clinical Genetics

Jaureouy, B.M. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1979.tb02033.x

Invited editorial comment: Failure of early prenatal diagnosis in classic achondroplasia

American Journal of Medical Genetics

Hall, J.G. and Golbus, M.S. and Graham, C.B.

DOI: 10.1002/ajmg.1320030408

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils

Human Genetics

Byers, P.H. and Holbrook, K.A. and Hall, J.G. and Bornstein, P. and Chandler, J.W.

DOI: 10.1007/BF00272296

The phenotypic variability of diastrophic dysplasia

The Journal of Pediatrics

Horton, W.A. and Rimoin, D.L. and Lachman, R.S. and Skovby, F. and Hollister, D.W. and Spranger, J. and Scott, C.I. and Hall, J.G.

DOI: 10.1016/S0022-3476(78)80896-8

Microphallus, Growth Hormone Deficiency, and Hypoglycemia in Russell-Silver Syndrome

American Journal of Diseases of Children

Hall, J.G.

DOI: 10.1001/archpedi.1978.02120360105028

Male pseudohermaphroditism associated with double mosaicism in Down syndrome

Birth Defects: Original Article Series

Hall, J.G. and Pagon, R.A. and Luthy, D. and Norwood, T.

Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD E) syndrome: an autosomal recessive condition

Birth Defects: Original Article Series

Pagon, R.A. and Chandler, J.W. and Collie, W.R. and Clarren, S.K. and Moon, J. and Minkin, S.A. and Hall, J.G.

Standard growth curves for achondroplasia

Journal of Pediatrics

Horton, W.A. and Rotter, J.I. and Rimoin, D.L. and Scott, C.I. and Hall, J.G.

DOI: 10.1016/S0022-3476(78)81152-4

POSSIBLE MATERNAL EFFECT ON SEVERITY OF NEUROFIBROMATOSIS

The Lancet

Miller, M. and Hall, JudithG.

DOI: 10.1016/S0140-6736(78)91804-4

Electron microscopy as an aid to diagnosis of disorders of the extracellular matrix: a new type of spondyloepiphyseal dysplasia

Birth Defects: Original Article Series

Byers, P.H. and Holbrook, K.A. and Chandler, J.W. and Bornstein, P. and Hall, J.G.

ACHOO syndrome (autosomal dominant compelling helio-opthalmic outburst syndrome)

Birth Defects: Original Article Series

Collie, W.R. and Pagon, R.A. and Hall, J.G. and Shokeir, M.H.K.

The frequency and financial burden of genetic disease in a pediatric hospital.

American journal of medical genetics

Hall, J.G. and Powers, E.K. and Mcllvaine, R.T. and Ean, V.H.

DOI: 10.1002/ajmg.1320010405

Syndactyly, digit hypoplasia and bands seen in patients with arthrogryposis - ? Etiologically similar to the malformations of the amniotic band syndrome

Birth Defects: Original Article Series

Hall, J.G. and Powers, E.

Children of Incest: When To Suspect and How To Evaluate?

American Journal of Diseases of Children

Hall, J.G.

DOI: 10.1001/archpedi.1978.02120350113030

Trisomy 18 in sibs and maternal chromosome 9 variant

Birth Defects: Original Article Series

Pauli, R.M. and Pagon, R.A. and Hall, J.G.

Amniotic fluid cell mosaicism for presumptive trisomy 20

Clinical Genetics

Rodriguhz, M.L. and Luthy, D. and Hall, J.G. and Norwood, T.H. and Hoehn, H.

DOI: 10.1111/j.1399-0004.1978.tb04245.x

Additional information on familial essential (benign) chorea

Clinical Genetics

Bird, T.D. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1978.tb02146.x

Thrombocytopenia with absent radius.

Archives of Disease in Childhood

J G Hall

DOI: 10.1136/adc.52.1.83

01 / 1977

Small structural changes of chromosome 8 - Two cases with evidence for deletion

Human Genetics

Beighle, C. and Karp, L.E. and Hanson, J.W. and Hall, J.G. and Hoehn, H.

DOI: 10.1007/BF00295814

Clinical neurogenetics: A survey of the relationship of medical genetics to clinical neurology

Neurology

Bird, T.D. and Hall, J.G.

DOI: 10.1212/wnl.27.11.1057

A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect

Teratology

Piepkorn, M. and Karp, L.E. and Hickok, D. and Wiegenstein, L. and Hall, J.G.

DOI: 10.1002/tera.1420160315

Prenatal diagnosis of chromosomal mosaicism for trisomy D

The Journal of Pediatrics

Dill, F.J. and Lowry, R.B. and Hall, J.G. and Hoehn, H.

DOI: 10.1016/S0022-3476(77)80596-9

Natural history of specific birth defects: Introduction.

Birth defects original article series

Hall, J.G.

New syndrome of chronic mucocutaneous candidiasis

Birth Defects: Original Article Series

Okamoto, G.A. and Hall, J.G. and Ochs, H. and Jackson, C. and Rodaway, K. and Chandler, J.

A syndrome of craniofacial anomalies, ectodermal defects, and chondroosseous dysplasia with similarities to Melnick Needles syndrome

Birth Defects: Original Article Series

Hanson, J.W. and Graham, C.B. and Hall, J.G.

The 2p Partial Trisomy Syndrome

American Journal of Diseases of Children

Dolan, C.R. and Hall, J.G.

DOI: 10.1001/archpedi.1977.02120250087020

Multiple congenital anomalies associated with oral anticoagulants

American Journal of Obstetrics and Gynecology

Shaul, W.L. and Hall, J.G.

DOI: 10.1016/S0002-9378(16)33249-5

The use of radiographic visualization for prenatal diagnosis

Birth Defects: Original Article Series

Omenn, G.S. and Hall, J.G. and Graham, C.B. and Karp, L.E.

Growth curves in achondroplasia

Birth Defects Original Article Series

Horton, W.A. and Rotter, J.I. and Kaitila, I. and Gursky, J. and Hall, J.G. and Shepard, T.H. and Rimoin, D.L.

Autosomal dominant inheritance of endocardial cushion defect

Birth Defects: Original Article Series

O'Nuallain, S. and Hall, J.G. and Stamm, S.J.

Acromesomelic dwarfism: Manifestations in childhood

American Journal of Medical Genetics

Langer Jr., L.O. and Beals, R.K. and Solomon, I.L. and Bard, P.A. and Bard, L.A. and Rissman, E.M. and Rogers, J.G. and Dorst, J.P. and Hall, J.G. and Sparkes, R.S. and Franken Jr., E.A.

DOI: 10.1002/ajmg.1320010110

A new short-rib polydactyly syndrome

Birth Defects: Original Article Series

Hall, J. and Piepkorn, M. and Karp, L.

Familial essential ("benign") chorea.

Journal of Medical Genetics

T D Bird and C B Carlson and J G Hall

DOI: 10.1136/jmg.13.5.357

10 / 1976

Familial essential ('benign') chorea

Journal of Medical Genetics

Bird, T.D. and Carlson, C.B. and Hall, J.G.

Warfarin and Fetal Abnormality: Reply

The Lancet

Hall, J.G.

DOI: 10.1016/S0140-6736(76)99010-3

Embryopathy associated with oral anticoagulant therapy

Birth Defects: Original Article Series

Hall, J.G.

An X linked form of cutis laxa due to deficiency of lysyl oxidase

Birth Defects: Original Article Series

Byers, P.H. and Narayanan, A.S. and Bornstein, P. and Hall, J.G.

Dominantly inherited ptosis, strabismus and ectopic pupils

Clinical Genetics

McPherson, E. and Robertson, C. and Cammarano, A. and Hall, J.G.

DOI: 10.1111/j.1399-0004.1976.tb00004.x

Chromosome 7 short arm deletion and craniosynostosis a 7p-syndrome

Human Genetics

McPherson, E. and Hall, J.G. and Hickman, R. and Gong, B.T. and Norwood, T.H. and Hoehn, H.

DOI: 10.1007/BF00295627

A New Arthrogryposis Syndrome With Facial and Limb Anomalies

American Journal of Diseases of Children

Hall, J.G. and Truog, W.E. and Plowman, D.L.

DOI: 10.1001/archpedi.1975.02120380090021

Chondrodysplasia Punctata and Maternal Warfarin Use During Pregnancy

American Journal of Diseases of Children

Shaul, W.L. and Emery, H. and Hall, J.G.

DOI: 10.1001/archpedi.1975.02120400060014

Jeune syndrome in an adult

Birth Defects: Original Article Series

Friedman, J.M. and Kaplan, H. and Hall, J.G.

Coarctation of the aorta in male cousins with similar maternal environmental exposure to insect repellent and insecticides

Pediatrics

Hall, J.G. and McLaughlin, J.F. and Stamm, S.

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.

Journal of Medical Genetics

J G Hall and H Herrod

DOI: 10.1136/jmg.12.4.397

Difficulties in the classification of the epiphyseal dysplasias

Birth Defects: Original Article Series

Lachman, R.S. and Rimoin, D.L. and Hall, J.G. and Kozlowski, K. and Langer Jr., L.O. and Scott Jr., C.I. and Spranger, J.

ARTERIAL OCCLUSION IN 47,XYY MALE

The Lancet

Kukolich, M. and Hall, JudithG.

DOI: 10.1016/S0140-6736(75)90706-0

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness

Journal of Medical Genetics

Hall, J.G. and Herrod, H.

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult

The American Journal of Medicine

Friedman, J.M. and Kaplan, H.G. and Hall, J.G.

DOI: 10.1016/0002-9343(75)90472-6

Familial congenital anorchia

Birth Defects: Original Article Series

Hall, J.G. and Morgan, A. and Blizzard, R.M.

A rare form of arthrogryposis

Birth Defects: Original Article Series

Weaver, D.D. and Hall, J.G.

Familial asymmetric crying facies secondary to hypoplasia of anguli oris muscle

BIRTH DEFECTS, ORIG.ART.SER.

Hall, J.G. and Miser, J.

Pseudoachondroplasia

Birth Defects: Original Article Series

Hall, J.G.

Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait

Birth Defects: Original Article Series

Hall, J.

Pseudoachondroplasia (Pseudoachondroplastic spondyloepiphyseal dysplasia)

American Journal of Diseases of Children

Hall JG. Pseudoachondroplasia (Pseudoachondroplastic spondyloepiphyseal dysplasia). AJDC 128:833-834, 1974.

A pattern of craniofacial and limb defects secondary to aberrant tissue bands

The Journal of Pediatrics

Jones, K.L. and Smith, D.W. and Hall, B.D. and Hall, J.G. and Ebbin, A.J. and Massoud, H. and Golbus, M.S.

DOI: 10.1016/S0022-3476(74)80559-7

Picture of the Month

American Journal of Diseases of Children

Gellis, S.S. and Feingold, M. and Hall, J.G.

DOI: 10.1001/archpedi.1974.02110310081015

Thanatophoric Dwarfism"Maybe Genetic but not Polygenic

Pediatrics

Hall, Judith G.

Oxidative energy deficiency. II. Human achondroplasia

Archives of Biochemistry and Biophysics

Mackler, B. and Haynes, B. and Inamdar, A.R. and Pedegana, L.R. and Hall, J.G. and Cohen Jr., M.M.

DOI: 10.1016/0003-9861(73)90531-6

Diastrophic dwarfism

Medicine (United States)

Walker, B.A. and Scott, C.I. and Hall, J.G. and Murdoch, J.L. and McKusick, V.A.

DOI: 10.1097/00005792-197201000-00003

The radiologic assessment of short stature--dwarfism.

Radiologic Clinics of North America

Dorst, J.P. and Scott Jr., C.I. and Hall, J.G.

Diabetes mellitus and sexual ateliotic dwarfism: a comparative study

Journal of Clinical Investigation

T. J. Merimee and S. E. Fineberg and V. A. McKusick and J. Hall

DOI: 10.1172/jci106325

06 / 1970

Achondroplasia"a genetic and statistical survey

Annals of Human Genetics

MURDOCH, J.L. and WALKER, B.A. and HALL, J.G. and ABBEY, H. and SMITH, K.K. and McKUSICK, V.A.

DOI: 10.1111/j.1469-1809.1970.tb01648.x

Capillary basement membrane structure: a comparative study of diabetics and sexual ateliotic dwarfs

Journal of Clinical Investigation

Thomas J. Merimee and Marvin D. Siperstein and Judith D. Hall and S. Edwin Fineberg

DOI: 10.1172/jci106434

A metabolic and hormonal basis of classifying ateliotic dwarfs

The Lancet

T.J. Merimee and D.L. Rimoin and J.D. Hall and V.A. Mckusick

DOI: 10.1016/s0140-6736(69)91861-3

05 / 1969

Thrombocytopenia with absent radius (TAR)

Medicine (United States)

Hall, J.G. and Levin, J. and Kuhn, J.P. and Ottenheimer, E.J. and van Berkum, K.A.P. and McKusick, V.A.

DOI: 10.1097/00005792-196948060-00001

Isolated human growth hormone deficiency. IV. The response of sexual ateliotic dwarfs to exogenous growth hormone

Metabolism

T.J. Merimee and D. Rabinowitz and J. Hall and D.L. Rimoin and V.A. McKusick

DOI: 10.1016/0026-0495(68)90007-3

11 / 1968

An unusual variety of endocrine dwarfism: Subresponsiveness to growth hormone in a sexually mature dwarf

The Lancet

T.J. Merimee and J. Hall and D. Rabinowitz and V.A. Mckusick and D.L. Rimoin

DOI: 10.1016/s0140-6736(68)92623-8

07 / 1968

Production of foetal haemoglobin in marrow cultures of human adults

Nature

Hall, J.G. and Motulsky, A.G.

DOI: 10.1038/217569a0

National Neurofibromatosis Foundation International Database

American Journal of Medical Genetics

J. M. Friedman and Patricia Birch and Carol Greene and null null

DOI: 10.1002/ajmg.1320450121

Current Projects

I’ve been doing clinical research for the last 45 years. I have been interested in the delineation of congenital anomalies and syndromes that have a genetic nature. In particular, I have worked on the genetics of short stature (including achondroplasia, Turner syndrome, and dwarfing syndromes), arthrogryposis (delineating specific types and their natural history, as well as an approach to diagnosis), neural tube defects and folic acid, and non-traditional mechanisms of genetic inheritance – including mosaicism, imprinting, and epigenetics. I plan to continue to work on arthrogryposis and natural history studies since they are extremely important in the understanding of proteomics and gene action.

My work has always been of a clinical nature, best exemplified by the publication of Majewski Osteodysplastic Primordial Dwarfism Type II, in which the natural history of this very rare syndrome was outlined and Amyoplasia, the most common form of arthrogryposis (multiple congenital contractures). Based on clear clinical delineation the MOPD II gene was then identified and the natural history studies enabled the recognition of individuals previously call Seckel syndrome. By contrast, Amyoplasia appears to be totally separate and related to vascular compromise in utero.

My major interests have been the description of natural history, which requires following patients over time and learning about what has happened to them (both common and rare complications) to explain the gene action processes of the particular abnormality present. With regard to arthrogryposis, there are over 400 different types. Genes have been found or mapped for about 150 of them, and the others require careful description of the clinical features and natural history. Arthrogryposis gives an insight into mechanisms of normal movement, such as what is needed to move a limb (e.g. nerve, end plate, muscle, etc.) as well as the development of abnormalities that can occur.

Honours & Awards

Canadian College of Medical Genetics Founders Award for Excellence in Medical Genetics (2013)

Canadian Medical Hall of Fame (2015)

Queen's Diamond Jubilee Medal (2012)

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