Overview

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.

Publications

Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international
Developmental Medicine and Child Neurology
DOI: 10.1111/dmcn.15915
2024

Personal journeys to and in human genetics and dysmorphology
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.63514
2024

Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional
Developmental Medicine and Child Neurology
DOI: 10.1111/dmcn.15914
2024

Common data elements for arthrogryposis multiplex congenita: An international framework
Developmental Medicine and Child Neurology
DOI: 10.1111/dmcn.15898
2024

The importance of age-specific gene expression
American Journal of Medical Genetics, Part A
Hall, J.G.
DOI: 10.1002/ajmg.a.63354
2023

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
2023

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
2023

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
2022

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
2021

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
2020

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
2019

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
2019

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 Pontén, E. and van Bosse, H.J.P. and Hall, J.G.
DOI: 10.1002/ajmg.c.31721
2019

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
2019

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
2019

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
2019

Summary of the 3rd international symposium on arthrogryposis
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
DOI: 10.1002/ajmg.c.31705
2019

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
2019

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
2019

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
2019

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
2019

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
2019

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
2019

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
2019

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
2018

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
2018

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
DOI: 10.1097/BPO.0000000000000996
2017

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
2017

Genetics and classifications
Journal of Pediatric Orthopaedics
Hall, J.G. and Kimber, E. and Van Bosse, H.J.P.
DOI: 10.1097/BPO.0000000000000997
2017

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
2017

Reflections on an academic career
Molecular Genetics and Genomic Medicine
Hall, J.G.
DOI: 10.1002/mgg3.298
2017

Pediatric Diseases and Epigenetics
Medical Epigenetics
DOI: 10.1016/B978-0-12-803239-8.00023-5
2016

Using the skills of academic elders
South African Medical Journal
Hall, J.G.
DOI: 10.7196/SAMJ.2016.v106i6.11023
2016

Arthrogryposis as a Syndrome: Gene Ontology Analysis
Molecular Syndromology
Hall, J.G. and Kiefer, J.
DOI: 10.1159/000446617
2016

The early history of Pallister–Hall syndrome—Buried treasure of a sort
Gene
Hall, J.G.
DOI: 10.1016/j.gene.2016.01.003
2016

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
2015

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
2015

Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17-19, 2014
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.36938
2015

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
2015

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
2015

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 Pontén, E. and van Bosse, H.J.P.
DOI: 10.1002/ajmg.a.37219
2015

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 Röthlisberger, 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
2014

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
2014

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
2014

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
2014

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
2014

Epigenetics: What does it mean for paediatric practice?
Paediatrics and Child Health (Canada)
Hall, J.G.
DOI: 10.1093/pch/19.1.27
2014

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
2014

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
2014

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
2014

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
2014

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
2013

The role of patient advocacy/parent support groups
South African Medical Journal
Hall, J.G.
DOI: 10.7196/SAMJ.6976
2013

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
2013

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
2013

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
2013

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
2013

The smallest of the small
Gene
Hall, J.G.
DOI: 10.1016/j.gene.2013.03.081
2013

Trajectory of an academic career: The coming of age of academic pediatricians
JAMA Pediatrics
Hall, J.G.
DOI: 10.1001/jamapediatrics.2013.1189
2013

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
2013

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
2013

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
2012

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
2012

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
2012

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.
2011

Foreword To The First Edition
Management of Genetic Syndromes: Third Edition
Hall, J.G.
DOI: 10.1002/9780470893159
2010

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
2010

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
2010

Importance of muscle movement for normal craniofacial development
Journal of Craniofacial Surgery
Hall, J.G.
DOI: 10.1097/SCS.0b013e3181ebcd4f
2010

New palpebral fissure measurements
American Journal of Medical Genetics, Part A
Hall, J.G.
DOI: 10.1002/ajmg.a.33430
2010

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
2009

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
2009

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 Méhes, K. and Patton, M. and Stevenson, R.E.
DOI: 10.1002/ajmg.a.32600
2009

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
2009

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
2009

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
2008

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
2008

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 Strauß, 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 König, R. and Seemanova, E. and Megarbane, A. and Ropers, H.-H. and Ullmann, R. and Horn, D. and Mundlos, S.
DOI: 10.1086/510919
2007

Achondroplasia
Lancet
Horton, W.A. and Hall, J.G. and Hecht, J.T.
DOI: 10.1016/S0140-6736(07)61090-3
2007

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
2007

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
2007

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
2007

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
2007

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
2007

Editorial independence for CMAJ: Signposts along the road,L'indépendance de la rédaction 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
2006

Festschrift reflection
American Journal of Medical Genetics
Hall, J.G.
DOI: 10.1002/ajmg.a.31040
2006

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
2006

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
2006

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
2006

Proteus syndrome: A syndrome named after a Greek god
Paediatiki
2006

Epigenetics is here to stay
Journal of Pediatrics
Hall, J.G.
DOI: 10.1016/j.jpeds.2005.04.011
2005

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
2005

Health supervision for children with achondroplasia
Pediatrics
Trotter, T.L. and Hall, J.G.
DOI: 10.1542/peds.2005-1440
2005

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
2005

Primary disorders of bone and connective tissues
Textbook of Pediatric Rheumatology
DOI: 10.1016/B978-1-4160-0246-8.50046-2
2005

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
2005

Pediatricians beware: The age of ARTs is upon us
Journal of Pediatrics
Hall, J.G.
DOI: 10.1016/j.jpeds.2005.01.041
2005

The challenge of developing career pathways for senior academic pediatricians
Pediatric Research
Hall, J.G.
DOI: 10.1203/01.PDR.0000158014.46884.E5
2005

Introductory speech for Robert J. Gorlin
American Journal of Human Genetics
DOI: 10.1086/427837
2005

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
2004

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
2004

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
2004

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
2004

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
2004

Re: Terminology of fetal growth (multiple letters)
Paediatrics and Child Health
Chance, G. and Hall, J.G.
2004

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
2004

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
2004

Arthrogryposis multiplex and related congenital disorders
Handbook of Clinical Neurophysiology
Hall, J.G.
DOI: 10.1016/S1567-4231(04)04022-5
2004

Re: Down syndrome and folic acid deficiency.
American journal of medical genetics. Part A
Hall, J.G.
DOI: 10.1002/ajmg.a.30364
2004

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.
2003

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
2003

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.
2003

American Pediatric Society presidential address 2002: The third third
Pediatric Research
DOI: 10.1203/01.PDR.0000052078.18329.D3
2003

A clinician's plea
Nature Genetics
Hall, J.G.
DOI: 10.1038/ng0403-440
2003

Open letter to Dana Hanson, President of the Canadian Medical Association regarding Quebec's Bill #114
Canadian Medical Association Journal
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
2003

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
2003

Twinning
Lancet
Hall, J.G.
DOI: 10.1016/S0140-6736(03)14237-7
2003

Lifeline
The Lancet
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
2003

Individualized medicine. What the genetic revolution will bring to health care in the 21st century
Canadian family physician Medecin de famille canadien
2003

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
2003

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.
2002

The very youngest science
CMAJ
Sinclair, A. and Hall, J.
2002

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
2002

Don't use the term "amyoplasia" loosely [2]
American Journal of Medical Genetics
Hall, J.G.
DOI: 10.1002/ajmg.10571
2002

Clinical and radiologic information or photographs [1]
Pediatric Radiology
Hall, J.G.
DOI: 10.1007/s00247-002-0700-0
2002

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
2000

Folic acid: The opportunity that still exists
CMAJ
Hall, J.G.
2000

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
1999

Human diseases and genomic imprinting.
Results and problems in cell differentiation
Hall, J.G.
1999

Human Diseases and Genomic Imprinting
Genomic Imprinting
Judith G. Hall
DOI: 10.1007/978-3-540-69111-2_6
1999

See one, do one, teach one
Pediatrics
Hall, J.G.
DOI: 10.1542/peds.103.1.155
1999

Oops - There won't be enough paediatric health care professionals in the next millennium
Paediatric Child Health
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
1998

Folic acid for the prevention of congenital anomalies
European Journal of Pediatrics
Hall, J. and Solehdin, F.
DOI: 10.1007/s004310050850
1998

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.
1998

International nomenclature and classification of the osteochondrodysplasias (1997)
Pediatric Radiology
DOI: 10.1007/s002470050458
1998

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)4:43.0.CO;2-8
1998

Folic acid: it's good preventive medicine
Contemporary Pediatrics
1998

Folate and its various ramifications.
Advances in pediatrics
Hall, J.G. and Solehdin, F.
1998

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)68:43.0.co;2-n
02/1997

Mendel might get dizzy
CMAJ
Hall, J.G.
1997

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)70:33.0.CO;2-H
1997

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.
1997

Give the embryo a chance
Nature Medicine
Hall, J.G.
DOI: 10.1038/nm0197-24
1997

Genomic imprinting: Nature and clinical relevance
Annual Review of Medicine
Hall, J.G.
DOI: 10.1146/annurev.med.48.1.35
1997

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
1997

The Impact of Birth Defects and Genetic Diseases
Archives of Pediatrics & Adolescent Medicine
Hall, J.G.
DOI: 10.1001/archpedi.1997.02170480012002
1997

Uniparental Disomy
Hong Kong Journal of Paediatrics
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
1997

Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins
Pediatric Radiology
DOI: 10.1007/s002470050160
1997

Neonatal Personnel in Canada
Paediatric Child Health
1997

Road map for child and youth health into the 21st Century: Report on the 1997 Ross Conference
Paediatric Child Health
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)63:13.3.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)65:13.0.CO;2-O
1996

The challenges and opportunities of times of change
American Journal of Human Genetics
Hall, J.G.
1996

Arthrogryposis associated with unsuccessful attempts at termination of pregnancy
American Journal of Medical Genetics
Hall, J.G.
DOI: 10.1002/(SICI)1096-8628(19960503)63:13.0.CO;2-G
1996

Twins and twinning.
American journal of medical genetics
Hall, J.G.
DOI: 10.1002/(SICI)1096-8628(19960122)61:33.0.CO;2-W
1996

An introduction to genomic imprinting and parent of origin effects
Acta Geneticae Medicae et Gemellologiae
DOI: 10.1017/S0001566000001100
1996

Amyoplasia, the most common type of arthrogryposis: The potential for good outcome
Pediatrics
Sells, J.M. and Jaffe, K.M. and Hall, J.G.
1996

Twinning: Mechanisms and genetic implications
Current Opinion in Genetics and Development
Hall, J.G.
DOI: 10.1016/S0959-437X(96)80012-8
1996

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.
1996

Embryologic development and monozygotic twinning
Acta Geneticae Medicae et Gemellologiae
DOI: 10.1017/S0001566000001094
1996

Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis
Journal of Pediatric Orthopaedics
Szöke, G. and Staheli, L.T. and Jaffe, K. and Hall, J.G.
DOI: 10.1097/00004694-199601000-00026
1996

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)65:33.0.CO;2-Q
1996

New mechanisms for genetic disease and nontraditional modes of inheritance.
Advances in pediatrics
Langlois, S. and Lopez-Rangel, E. and Hall, J.G.
1995

Information update on Achondroplasia [7]
Pediatrics
Hall, J.G.
1995

Information Update on Achondroplasia
Pediatrics
1995

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.
1995

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
1995

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.
1994

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
1994

Neural tube defects. Introduction.
Ciba Foundation symposium
Hall, J.G.
1994

Mouse homologues of human hereditary disease
Journal of Medical Genetics
Searle, A.G. and Edwards, J.H. and Hall, J.G.
1994

Non-traditional forms of inheritance in skeletal dysplasias
Pediatric Radiology
Hall, J.G. and Lopez-Rangel, E.
DOI: 10.1007/BF02011905
1994

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
1994

Current management of meningomyelocele
BC Medical Journal
1994

Prenatal Genetic Diagnosis for Pediatricians
Pediatrics
1994

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
1993

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
1993

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.
1993

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.
1993

Genomic imprinting: summary of an NICHD conference.
American journal of medical genetics
DOI: 10.1002/ajmg.1320460614
1993

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
1993

CATCH 22
Journal of Medical Genetics
Hall, J.
DOI: 10.1136/jmg.30.10.801
1993

Preface
Pediatric Clinics of North America
Hall, J.G.
DOI: 10.1016/s0031-3955(16)38258-x
1992

Genomic imprinting and its clinical implications
New England Journal of Medicine
Hall, J.G.
DOI: 10.1056/NEJM199203193261210
1992

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
1992

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
1992

Molecular nosology of heritable disorders of connective tissue
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320420406
1992

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
1992

Nontraditional inheritance
Pediatric Clinics of North America
Austin, K.D. and Hall, J.G.
DOI: 10.1016/S0031-3955(16)38298-0
1992

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
1991

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
1991

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
1991

Genomic imprinting
Current Opinion in Genetics and Development
Hall, J.G.
DOI: 10.1016/0959-437X(91)80038-N
1991

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
1991

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
1991

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.
1991

Genomic imprinting, monozygous twinning, and X inactivation
The Lancet
Lubinsky, MarkS. and Hall, JudithG.
DOI: 10.1016/0140-6736(91)92956-3
1991

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
1991

The new genetics and its relevance to orthopedics
Clinical Orthopaedics and Related Research
Hall, J.G.
DOI: 10.1097/00003086-199103000-00003
1991

Genomic imprinting - review and relevance to human diseases
American Journal of Human Genetics
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
1990

How imprinting is relevant to human disease
Development
1990

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
1990

Could acrocallosal syndrome and Greig syndrome affect the same developmental gene?
American Journal of Medical Genetics
Hall, J.G.
DOI: 10.1002/ajmg.1320360331
1990

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
1990

The SNATIATION reflex
Journal of Medical Genetics
Hall, J.G.
DOI: 10.1136/jmg.27.4.275
1990

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
1990

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
1990

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
1990

Genomic imprinting: Review and relevance to human diseases
American Journal of Human Genetics
Hall, J.G.
1990

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
1990

Somatic and germ-line mosaicism in autosomal dominant antecubital pterygium
Clinical Genetics
Hall, J.
DOI: 10.1111/j.1399-0004.1990.tb03496.x
1990

A retrospective study of pregnancy complications among 828 cases of arthrogryposis
Genetic Counseling
Fahy, M.J. and Hall, J.G.
1990

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
1990

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
1990

Angelman's syndrome, abnormality of 15q11-13, and imprinting
Journal of Medical Genetics
Hall, J.G.
DOI: 10.1136/jmg.27.2.141
1990

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
1989

Trisomy 11q: Features and prognosis
JAMA
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
1989

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
1989

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
1989

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
1989

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.
1989

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
1989

Encephalocraniocutaneous lipomatosis
Neurofibromatosis
PubMed: 2699567
1989

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
1989

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.
1989

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
1989

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
1988

Natural History of Human Chondrodysplasias
Pathology and Immunopathology Research
Judith G. Hall
DOI: 10.1159/000157099
1988

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
1988

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.
1988

The value of the study of natural history in genetic disorders and congenital anomaly syndromes
Journal of Medical Genetics
Hall, J.G.
1988

Kyphosis in achondroplasia: Probably preventable
The Journal of Pediatrics
Hall, J.G.
DOI: 10.1016/S0022-3476(88)80157-4
1988

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
1988

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
1988

Mild expression of the Pfeiffer syndrome
Clinical Genetics
Hall, J.G.
DOI: 10.1111/j.1399-0004.1988.tb02853.x
1988

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
1988

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.
1988

Clinical, genetic and epidemiological factors in neural tube defects
American Journal of Human Genetics
1988

Review and hypotheses: Somatic mosaicism: Observations related to clinical genetics
American Journal of Human Genetics
Hall, J.G.
1988

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
1988

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
1988

The natural history of achondroplasia.
Basic life sciences
Hall, J.G.
1988

Familial limb deficiency
Clinical Genetics
Hoon, A. and Hall, J.G.
DOI: 10.1111/j.1399-0004.1988.tb02851.x
1988

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
1987

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
1987

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
1987

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
1987

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
1987

Neuroleptic malignant syndrome (NMS): what are the genetic factors?
Canadian journal of psychiatry. Revue canadienne de psychiatrie
Bamforth, S. and Hall, J.G.
1987

Thrombocytopenia and absent radius (TAR) syndrome
Journal of Medical Genetics
Hall, J.G.
1987

GENETICS OF TUBEROUS SCLEROSIS
The Lancet
Hall, JudithG. and Byers, PeterH.
DOI: 10.1016/S0140-6736(87)90396-5
1987

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.
1987

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.
1987

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
1987

Nonimmune hydrops fetalis.
Pediatrics in review / American Academy of Pediatrics
McGillivray, B.C. and Hall, J.G.
DOI: 10.1542/pir.9-6-197
1987

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
1987

Analysis of Pena Shokeir phenotype.
American journal of medical genetics
Hall, J.G.
DOI: 10.1002/ajmg.1320250112
1986

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
1986

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
1986

NEURAL TUBE DEFECTS, SEX RATIOS, AND X INACTIVATTON
The Lancet
Hall, JudithG.
DOI: 10.1016/S0140-6736(86)91460-1
1986

Genetic Counseling
JAMA: The Journal of the American Medical Association
Hall, J.G.
DOI: 10.1001/jama.1986.03380150101028
1986

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
1986

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)58:123.0.CO;2-A
1986

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
1986

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
1986

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
1986

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
1986

Obstetric and gynecologic problems in women with chondrodystrophies
Obstetrics and Gynecology
Allanson, J.E. and Hall, J.G.
1986

Medical Genetics
JAMA: The Journal of the American Medical Association
Hall, J.G.
DOI: 10.1001/jama.1985.03360160128032
1985

Tuberous sclerosis: Case report and investigation of family members
Canadian Medical Association Journal
Wilson, R.D. and Hall, J.G. and McGillivray, B.C.
1985

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.
1985

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
1985

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
1985

Genetic aspects of arthrogryposis
Clinical Orthopaedics and Related Research
Hall, J.G.
DOI: 10.1097/00003086-198504000-00006
1985

Approach to multiple congenital anomaly syndromes
Seminars in Perinatology
Witt, D.R. and Hall, J.G.
1985

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
1985

An approach to malformation syndromes.
Progress in clinical and biological research
Hall, J.G.
1985

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
1985

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
1985

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.
1985

Growth analysis in clinical genetics.
Progress in clinical and biological research
Opitz, J.M. and Mendez, H.M. and Hall, J.G.
1985

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.
1984

Vitamin A Teratogenicity
New England Journal of Medicine
Hall, J.G. and Goodman, D.S.
DOI: 10.1056/NEJM198409203111214
1984

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
1984

Craniofacial development in arthrogryposis (congenital contractures)
Birth Defects: Original Article Series
Hall, J.G.
1984

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
1984

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
1984

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
1984

An approach to research on congenital contractures.
Birth defects original article series
Hall, J.G.
1984

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
1984

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
1984

Cytogenetic findings in over 2,000 amniocenteses
CMAJ
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
1983

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
1983

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
1983

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.
1983

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
1983

Chromosome abnormalities and advanced maternal age
BC Medical Journal
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
1983

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
1982

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
1982

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
1982

Teratogens associated with congenital contractures in humans and in animals
Teratology
Hall, J.G. and Reed, S.D.
DOI: 10.1002/tera.1420250207
1982

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
1982

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
1982

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
1982

An approach to congenital contractures (arthrogryposis)
Pediatric Annals
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 Tolarová, M. and Hall, J.G. and Reed, S. and Curry, C.J.
DOI: 10.1002/ajmg.1320090211
1981

Possible maternal and hormonal factors in neurofibromatosis.
Advances in neurology
Hall, J.G.
1981

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1¿q24 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
1981

An approach to congenital contractures (arthrogryposis).
Pediatric Annals
Hall, J.G.
1981

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
1981

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
1981

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
1981

The physiology of intestinal immunity.
Advances in Experimental Medicine and Biology
Hall, J.G.
1981

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.
1981

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.
1981

Prenatal diagnosis of inherited skin diseases
Birth Defects: Original Article Series
Hall, J.G.
1981

Kaufman syndrome
American Journal of Medical Genetics
Hall, J.G.
DOI: 10.1002/ajmg.1320080405
1981

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

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
1980

Familial asymmetric crying facies
American Journal of Diseases of Children
07/1979

INHERITANCE OF TUBEROUS SCLEROSIS
The Lancet
Sybert, VirginiaP. and Hall, JudithG.
DOI: 10.1016/S0140-6736(79)91244-3
1979

WARFARIN EMBRYOPATHY
The Lancet
Pauli, RichardM. and Hall, JudithG.
DOI: 10.1016/S0140-6736(79)90017-5
1979

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
1979

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
1979

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
1979

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
1979

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
1979

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.
1979

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
1979

The radiographic prenatal diagnosis of the generalized bone dysplasias and other skeletal abnormalities
Birth Defects: Original Article Series
Lachman, R. and Hall, J.G.
1979

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
1979

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.
1979

DIAGNOSIS OF SHORT LIMBED DWARFISM BY ULTRASONIC MENSURATION OF FETAL FEMORAL LENGTH.
Filly, R.A. and Carey, J.C. and Hall, J.G.
1979

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
1979

CARCINOEMBRYONIC ANTIGEN IN LIVER DISEASE
The Lancet
Hall, J.G.
DOI: 10.1016/S0140-6736(79)90092-8
1979

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
1979

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
1979

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
1978

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
1978

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
1978

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.
1978

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.
1978

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
1978

POSSIBLE MATERNAL EFFECT ON SEVERITY OF NEUROFIBROMATOSIS
The Lancet
Miller, M. and Hall, JudithG.
DOI: 10.1016/S0140-6736(78)91804-4
1978

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.
1978

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.
1978

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
1978

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.
1978

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
1978

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.
1978

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
1978

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
1978

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
1977

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
1977

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
1977

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
1977

Natural history of specific birth defects: Introduction.
Birth defects original article series
Hall, J.G.
1977

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.
1977

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.
1977

The 2p Partial Trisomy Syndrome
American Journal of Diseases of Children
Dolan, C.R. and Hall, J.G.
DOI: 10.1001/archpedi.1977.02120250087020
1977

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
1977

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.
1977

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.
1977

Autosomal dominant inheritance of endocardial cushion defect
Birth Defects: Original Article Series
O'Nuallain, S. and Hall, J.G. and Stamm, S.J.
1977

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
1977

A new short-rib polydactyly syndrome
Birth Defects: Original Article Series
Hall, J. and Piepkorn, M. and Karp, L.
1977

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.
1976

Warfarin and Fetal Abnormality: Reply
The Lancet
Hall, J.G.
DOI: 10.1016/S0140-6736(76)99010-3
1976

Embryopathy associated with oral anticoagulant therapy
Birth Defects: Original Article Series
Hall, J.G.
1976

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.
1976

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
1976

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
1976

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
1975

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
1975

Jeune syndrome in an adult
Birth Defects: Original Article Series
Friedman, J.M. and Kaplan, H. and Hall, J.G.
1975

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.
1975

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
1975

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.
1975

ARTERIAL OCCLUSION IN 47,XYY MALE
The Lancet
Kukolich, M. and Hall, JudithG.
DOI: 10.1016/S0140-6736(75)90706-0
1975

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness
Journal of Medical Genetics
Hall, J.G. and Herrod, H.
1975

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
1975

Familial congenital anorchia
Birth Defects: Original Article Series
Hall, J.G. and Morgan, A. and Blizzard, R.M.
1975

A rare form of arthrogryposis
Birth Defects: Original Article Series
Weaver, D.D. and Hall, J.G.
1975

Familial asymmetric crying facies secondary to hypoplasia of anguli oris muscle
BIRTH DEFECTS, ORIG.ART.SER.
Hall, J.G. and Miser, J.
1975

Pseudoachondroplasia
Birth Defects: Original Article Series
Hall, J.G.
1975

Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait
Birth Defects: Original Article Series
Hall, J.
1974

Pseudoachondroplasia (Pseudoachondroplastic spondyloepiphyseal dysplasia)
American Journal of Diseases of Children
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
1974

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
1974

Thanatophoric Dwarfism–Maybe Genetic but not Polygenic
Pediatrics
1973

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
1973

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
1972

The radiologic assessment of short stature--dwarfism.
Radiologic Clinics of North America
Dorst, J.P. and Scott Jr., C.I. and Hall, J.G.
1972

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
1970

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
1970

A metabolic and hormonal basis of classifying ateliotic dwarfs
The Lancet
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
1969

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
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
1968

National Neurofibromatosis Foundation International Database
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320450121

Research

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)

Research Group Members

Catherine Wang, Research Assistant