Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
Angewandte Chemie (International ed. in English)
Santana AG and Robinson K and Vickers C and Deen MC and Chen HM and Zhou S and Dai B and Fuller M and Boraston AB and Vocadlo DJ and Clarke LA and Withers SG
DOI: 10.1002/anie.202207974
PubMed: 35864061
08/2022

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG advances
Elliott AM and Adam S and du Souich C and Lehman A and Nelson TN and van Karnebeek C and Alderman E and Armstrong L and Aubertin G and Blood K and Boelman C and Boerkoel C and Friedman JM
DOI: 10.1016/j.xhgg.2022.100108
PubMed: 35599849
04/2022

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Genetics in medicine : official journal of the American College of Medical Genetics
Chin HL and Gazzaz N and Huynh S and Handra I and Warnock L and Moller-Hansen A and Boerkoel P and Jacobsen JOB and du Souich C and Zhang N and Shefchek K and Prentice LM and Boerkoel CF
DOI: 10.1016/j.gim.2022.03.013
PubMed: 35442193
04/2022

Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition: A Scoping Review.
JAMA pediatrics
Wainstein T and Marshall SK and Ross CJD and Virani AK and Austin JC and Elliott AM and GenCOUNSEL Study
DOI: 10.1001/jamapediatrics.2021.4290
PubMed: 34807246
02/2022

The stepwise process of integrating a genetic counsellor into primary care.
European journal of human genetics : EJHG
Slomp C and Morris E and GenCOUNSEL Study and Price M and Elliott AM and Austin J
DOI: 10.1038/s41431-022-01040-x
PubMed: 35095102
01/2022

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications
Molecular Case Studies
Courtney B. Cook and Linlea Armstrong and Cornelius F. Boerkoel and Lorne A. Clarke and Christèle du Souich and Michelle K. Demos and William T. Gibson and Harinder Gill and Elena Lopez and Millan S. Patel and Kathryn Selby and Ziad Abu-Sharar and Alison M. Elliott and Jan M. Friedman
DOI: 10.1101/mcs.a006125
12/2021

Lipid-mimicking phosphorus-based glycosidase inactivators as pharmacological chaperones for the treatment of Gaucher's disease.
Chemical science
Scherer M and Santana AG and Robinson K and Zhou S and Overkleeft HS and Clarke L and Withers SG
DOI: 10.1039/d1sc03831a
PubMed: 34760177
09/2021

Mucopolysaccharidosis Type I
Clarke LA
PubMed: 20301341
02/2021

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience
International Journal of Neonatal Screening
Lorne Clarke and Patricia Dickson and N. Matthew Ellinwood and Terri L. Klein
DOI: 10.3390/ijns6040091
11/2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genetics in medicine : official journal of the American College of Medical Genetics
Castilla-Vallmanya L and Selmer KK and Dimartino C and Rabionet R and Blanco-Sánchez B and Yang S and Reijnders MRF and van Essen AJ and Oufadem M and Vigeland MD and Stadheim B and Gordon CT
DOI: 10.1038/s41436-020-0792-7
PubMed: 32376980
05/2020

Mobile element insertion detection in 89,874 clinical exomes.
Genetics in medicine : official journal of the American College of Medical Genetics
Torene RI and Galens K and Liu S and Arvai K and Borroto C and Scuffins J and Zhang Z and Friedman B and Sroka H and Heeley J and Beaver E and Clarke L and Neil S and Walia J and Hull D and Retterer K
DOI: 10.1038/s41436-020-0749-x
PubMed: 31965078
01/2020

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Clinical Genetics
Lorne A. Clarke and Roberto Giugliani and Nathalie Guffon and Simon A. Jones and Hillary A. Keenan and Maria V. Munoz-Rojas and Torayuki Okuyama and David Viskochil and Chester B. Whitley and Frits A. Wijburg and Joseph Muenzer
DOI: 10.1111/cge.13583
10/2019

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
American journal of medical genetics. Part A
Viskochil D and Clarke LA and Bay L and Keenan H and Muenzer J and Guffon N
DOI: 10.1002/ajmg.a.61378
PubMed: 31639289
10/2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Journal of human genetics
Sekiguchi F and Tsurusaki Y and Okamoto N and Teik KW and Mizuno S and Suzumura H and Isidor B and Ong WP and Haniffa M and White SM and Matsuo M and Saito K and Phadke S and Kosho T and Matsumoto N
DOI: 10.1038/s10038-019-0667-4
PubMed: 31530938
09/2019

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
DOI: 10.1007/s00431-019-03399-4
06/2019

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial
Molecular Genetics and Metabolism
DOI: 10.1016/j.ymgme.2019.03.010
05/2019

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
JIMD reports
Cox GF and Clarke LA and Giugliani R and McGovern MM
DOI: 10.1007/8904_2018_120
PubMed: 29995201
07/2018

Is it Fabry disease?
Genetics in Medicine
Schiffmann, R. and Fuller, M. and Clarke, L.A. and Aerts, J.M.F.G.
DOI: 10.1038/gim.2016.55
2016

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
Journal of Pediatrics
Clarke, L.A. and Atherton, A.M. and Burton, B.K. and Day-Salvatore, D.L. and Kaplan, P. and Leslie, N.D. and Scott, C.R. and Stockton, D.W. and Thomas, J.A. and Muenzer, J.
DOI: 10.1016/j.jpeds.2016.11.036
2016

12year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: The important role of early treatment
BMC Medical Genetics
Gabrielli, O. and Clarke, L.A. and Ficcadenti, A. and Santoro, L. and Zampini, L. and Volpi, N. and Coppa, G.V.
DOI: 10.1186/s12881-016-0284-4
2016

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome
Molecular Genetics and Metabolism
Clarke, L.A. and Harmatz, P. and Fong, E.W.
DOI: 10.1016/j.ymgme.2015.12.157
2016

Characterization of early disease status in treatment-naive male paediatric patients with fabry disease enrolled in a randomized clinical trial
PLoS ONE
Wijburg, F.A. and Bénichou, B. and Bichet, D.G. and Clarke, L.A. and Dostalova, G. and Fainboim, A. and Fellgiebel, A. and Forcelini, C. and Haack, K.A. and Hopkin, R.J. and Mauer, M. and Najafian, B. and Scott, C.R. and Shankar, S.P. and Thurberg, B.L. and T?ndel, C. and Tylki-Szyma?ska, A. and Ramaswami, U.
DOI: 10.1371/journal.pone.0124987
2015

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders
Best Practice and Research: Clinical Endocrinology and Metabolism
Clarke, L.A. and Hollak, C.E.M.
DOI: 10.1016/j.beem.2014.08.010
2015

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I
Molecular Genetics and Metabolism
Heppner, J.M. and Zaucke, F. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2014.09.012
2015

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose
Skeletal Radiology
Lachman, R.S. and Burton, B.K. and Clarke, L.A. and Hoffinger, S. and Ikegawa, S. and Jin, D.-K. and Kano, H. and Kim, O.-H. and Lampe, C. and Mendelsohn, N.J. and Shediac, R. and Tanpaiboon, P. and White, K.K.
DOI: 10.1007/s00256-013-1797-y
2014

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
Molecular genetics and metabolism
Jones SA and Parini R and Harmatz P and Giugliani R and Fang J and Mendelsohn NJ and HOS Natural History Working Group on behalf of HOS Investigators
DOI: 10.1016/j.ymgme.2013.03.001
PubMed: 23537841
03/2013

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.
European journal of pediatrics
Cohn GM and Morin I and Whiteman DA and Hunter Outcome Survey Investigators
DOI: 10.1007/s00431-013-1967-x
PubMed: 23468122
03/2013

Fetal progeria: Prenatal sonographic findings in petty syndrome
Journal of Ultrasound in Medicine
Pugash, D. and Schrader, K.A. and Dunham, C.P. and Popescu, O.-E. and Sargent, M.A. and Lehman, A.M. and Yong, S.L. and Clarke, L.A.
DOI: 10.7863/ultra.32.5.881
2013

Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease
Blood Cells, Molecules, and Diseases
Sanders, A. and Hemmelgarn, H. and Melrose, H.L. and Hein, L. and Fuller, M. and Clarke, L.A.
DOI: 10.1016/j.bcmd.2013.03.006
2013

Biomarkers
Advances in Gaucher Disease: Basic and Clinical Perspectives
Clarke, L.
DOI: 10.2217/EBO.12.189
2013

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Orphanet Journal of Rare Diseases
DOI: 10.1186/1750-1172-7-22
2012

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus
European Journal of Pediatrics
Muenzer, J. and Bodamer, O. and Burton, B. and Clarke, L. and Frenking, G.S. and Giugliani, R. and Jones, S. and Rojas, M.V.M. and Scarpa, M. and Beck, M. and Harmatz, P.
DOI: 10.1007/s00431-011-1606-3
2012

Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility
Molecular Genetics and Metabolism
Clarke, L.A. and Winchester, B. and Giugliani, R. and Tylki-Szyma?ska, A. and Amartino, H.
DOI: 10.1016/j.ymgme.2012.05.003
2012

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants
Glycobiology
He, X. and Galpin, J.D. and Tropak, M.B. and Mahuran, D. and Haselhorst, T. and Von Itzstein, M. and Kolarich, D. and Packer, N.H. and Miao, Y. and Jiang, L. and Grabowski, G.A. and Clarke, L.A. and Kermode, A.R.
DOI: 10.1093/glycob/cwr157
2012

Production of a-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease
Nature Communications
He, X. and Haselhorst, T. and Von Itzstein, M. and Kolarich, D. and Packer, N.H. and Gloster, T.M. and Vocadlo, D.J. and Clarke, L.A. and Qian, Y. and Kermode, A.R.
DOI: 10.1038/ncomms2070
2012

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis i and II patients
Journal of Inherited Metabolic Disease
Clarke, L.A. and Hemmelgarn, H. and Colobong, K. and Thomas, A. and Stockler, S. and Casey, R. and Chan, A. and Fernoff, P. and Mitchell, J.
DOI: 10.1007/s10545-011-9369-6
2012

Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication
Molecular Genetics and Metabolism
Cabrera, G.H. and Fernández, I. and Dominguez, M. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2012.06.001
2012

Laronidase for the treatment of mucopolysaccharidosis type I.
Expert review of endocrinology & metabolism
Clarke LA
DOI: 10.1586/eem.11.72
PubMed: 30780865
11/2011

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
Circulation Research
Regalado, E.S. and Guo, D.-C. and Villamizar, C. and Avidan, N. and Gilchrist, D. and McGillivray, B. and Clarke, L. and Bernier, F. and Santos-Cortez, R.L. and Leal, S.M. and Bertoli-Avella, A.M. and Shendure, J. and Rieder, M.J. and Nickerson, D.A. and Milewicz, D.M.
DOI: 10.1161/CIRCRESAHA.111.248161
2011

Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: Glycosaminoglycan storage is merely the instigator
Rheumatology
Clarke, L.A.
DOI: 10.1093/rheumatology/ker395
2011

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation
Molecular Genetics and Metabolism
Wang, D. and Shukla, C. and Liu, X. and Schoeb, T.R. and Clarke, L.A. and Bedwell, D.M. and Keeling, K.M.
DOI: 10.1016/j.ymgme.2009.08.002
2010

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up
Pediatrics
Gabrielli, O. and Clarke, L.A. and Bruni, S. and Coppa, G.V.
DOI: 10.1542/peds.2009-1728
2010

Imaging of enzyme replacement therapy using PET
Proceedings of the National Academy of Sciences of the United States of America
Phenix, C.P. and Rempel, B.P. and Colobong, K. and Doudet, D.J. and Adam, M.J. and Clarke, L.A. and Withers, S.G.
DOI: 10.1073/pnas.1003247107
2010

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice
Journal of Clinical Investigation
Dawson, P.A. and Russell, C.S. and Lee, S. and McLeay, S.C. and Van Dongen, J.M. and Cowley, D.M. and Clarke, L.A. and Markovich, D.
DOI: 10.1172/JCI31474
2010

Corrigendum to "Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation" [Mol. Genet. Metab. 99 (2010) 62-71] (DOI:10.1016/j.ymgme.2009.08.002)
Molecular Genetics and Metabolism
Wang, D. and Shukla, C. and Liu, X. and Schoeb, T.R. and Clarke, L.A. and Bedwell, D.M. and Keeling, K.M.
DOI: 10.1016/j.ymgme.2009.12.013
2010

Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants.
Neurology
Marder K and Zhao H and Eberly S and Tanner CM and Oakes D and Shoulson I and Huntington Study Group
DOI: 10.1212/wnl.0b013e3181b04aa2
PubMed: 19652143
08/2009

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Journal of inherited metabolic disease
Jones SA and Almássy Z and Beck M and Burt K and Clarke JT and Giugliani R and Hendriksz C and Kroepfl T and Lavery L and Lin SP and Malm G and Ramaswami U and Tincheva R and Wraith JE and HOS Investigators
DOI: 10.1007/s10545-009-1119-7
PubMed: 19597960
07/2009

The mucopolysaccharidoses: A success of molecular medicine (Expert Reviews in Molecular Medicine (2008) 10, (e1) DOI: 10.1017/S1462399408000550)
Expert Reviews in Molecular Medicine
Clarke, L.A.
DOI: 10.1017/S1462399409001185
2009

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
Pediatrics
Clarke, L.A. and Wraith, J.E. and Beck, M. and Kolodny, E.H. and Pastores, G.M. and Muenzer, J. and Rapoport, D.M. and Berger, K.I. and Sidman, M. and Kakkis, E.D. and Cox, G.F.
DOI: 10.1542/peds.2007-3847
2009

Mucopolysaccharidosis I: Management and treatment guidelines
Pediatrics
Muenzer, J. and Wraith, J.E. and Clarke, L.A.
DOI: 10.1542/peds.2008-0416
2009

Intracranial calcification after cord blood neonatal transplantation for Krabbe disease
Neuropediatrics
Lehman, A.M. and Schultz, K.R. and Poskitt, K. and Bjornson, B. and Keyes, R. and Waters, P.J. and Clarke, L.A. and Everett, R. and McConnell, D. and Stockler, S.
DOI: 10.1055/s-0029-1243189
2009

Production and characterization of soluble human lysosomal enzyme a-iduronidase with high activity from culture media of transgenic tobacco BY-2 cells
Plant Science
Fu, L.H. and Miao, Y. and Lo, S.W. and Seto, T.C. and Sun, S.S.M. and Xu, Z.-F. and Clemens, S. and Clarke, L.A. and Kermode, A.R. and Jiang, L.
DOI: 10.1016/j.plantsci.2009.08.016
2009

Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities
American Journal of Pathology
Wilson, S. and Hashamiyan, S. and Clarke, L. and Saftig, P. and Mort, J. and Dejica, V.M. and Brömme, D.
DOI: 10.2353/ajpath.2009.090211
2009

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Molecular cytogenetics
Tyson C and Qiao Y and Harvard C and Liu X and Bernier FP and McGillivray B and Farrell SA and Arbour L and Chudley AE and Clarke L and Gibson W and Dyack S and McLeod R and Costa T and Rajcan-Separovic E
DOI: 10.1186/1755-8166-1-23
PubMed: 19000322
11/2008

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria.
American journal of medical genetics. Part A
Lee P and Treacy EP and Crombez E and Wasserstein M and Waber L and Wolff J and Wendel U and Dorenbaum A and Bebchuk J and Christ-Schmidt H and Seashore M and Giovannini M and Sapropterin Research Group
DOI: 10.1002/ajmg.a.32562
PubMed: 18932221
11/2008

Pharmacokinetics of sapropterin in patients with phenylketonuria
Clinical Pharmacokinetics
Feillet, F. and Clarke, L. and Meli, C. and Lipson, M. and Morris, A.A. and Harmatz, P. and Mould, D.R. and Green, B. and Dorenbaum, A. and Giovannini, M. and Foehr, E.
DOI: 10.2165/0003088-200847120-00006
2008

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
Pediatric Research
Hopkin, R.J. and Bissler, J. and Banikazemi, M. and Clarke, L. and Eng, C.M. and Germain, D.P. and Lemay, R. and Tylki-Szymanska, A. and Wilcox, W.R.
DOI: 10.1203/PDR.0b013e318183f132
2008

Idursulfase for the treatment of mucopolvsaccharidosis II
Expert Opinion on Pharmacotherapy
Clarke, L.A.
DOI: 10.1517/14656566.9.2.311
2008

The mucopolysaccharidoses: A success of molecular medicine
Expert Reviews in Molecular Medicine
Clarke, L.A.
DOI: 10.1017/S1462399408000550
2008

Heparin cofactor II-thrombin complex: A biomarker of MPS disease
Molecular Genetics and Metabolism
Randall, D.R. and Colobong, K.E. and Hemmelgarn, H. and Sinclair, G.B. and Hetty, E. and Thomas, A. and Bodamer, O.A. and Volkmar, B. and Fernhoff, P.M. and Casey, R. and Chan, A.K. and Mitchell, G. and Stockler, S. and Melancon, S. and Rupar, T. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2008.05.001
2008

A Phase III Extension Study of Aldurazyme®(Laronidase) in Mucopolysaccharidosis I
Clinical Therapeutics
Clarke, L.A. and Wraith, J.E. and Beck, M. and Kolodny, E.H. and Pastores, G.M. and Muenzer, J.
DOI: 10.1016/S0149-2918(07)80472-3
2007

Mucopolysaccharidosis I
Lysosomal Storage Disorders
Clarke, L.A.
DOI: 10.1007/978-0-387-70909-3_24
2007

Mucopolysaccharidosis II
Lysosomal Storage Disorders
Clarke, L.A.
DOI: 10.1007/978-0-387-70909-3_25
2007

Generation of a conditional knockout of murine glucocerebrosidase: Utility for the study of Gaucher disease
Molecular Genetics and Metabolism
Sinclair, G.B. and Jevon, G. and Colobong, K.E. and Randall, D.R. and Choy, F.Y.M. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2006.09.008
2007

Heparin cofactor II-thrombin complex in MPS I: A biomarker of MPS disease
Molecular Genetics and Metabolism
Randall, D.R. and Sinclair, G.B. and Colobong, K.E. and Hetty, E. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2006.01.005
2006

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy
Molecular Genetics and Metabolism
Leary, S.C. and Mattman, A. and Wai, T. and Koehn, D.C. and Clarke, L.A. and Chan, S. and Lomax, B. and Eydoux, P. and Vallance, H.D. and Shoubridge, E.A.
DOI: 10.1016/j.ymgme.2006.04.016
2006

Synthesis of enzymatically active human a-L-iduronidase in Arabidopsis cgl (complex glycan-deficient) seeds
Plant Biotechnology Journal
Downing, W.L. and Galpin, J.D. and Clemens, S. and Lauzon, S.M. and Samuels, A.L. and Pidkowich, M.S. and Clarke, L.A. and Kermode, A.R.
DOI: 10.1111/j.1467-7652.2005.00166.x
2006

Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: Implications for assessment of therapeutic interventions in Hurler syndrome
Pediatric Research
Braunlin, E. and Mackey-Bojack, S. and Panoskaltsis-Mortari, A. and Berry, J.M. and Mcelmurry, R.T. and Riddle, M. and Sun, L.-Y. and Clarke, L.A. and Tolar, J. and Blazar, B.R.
DOI: 10.1203/01.pdr.0000190579.24054.39
2006

A homology model for human a-L-iduronidase: Insights into human disease
Molecular Genetics and Metabolism
Rempel, B.P. and Clarke, L.A. and Withers, S.G.
DOI: 10.1016/j.ymgme.2004.12.006
2005

Submicroscopic deletions and duplications in individuals with intellectual disability detected by Array-CGH
American Journal of Medical Genetics
Tyson, C. and Harvard, C. and Locker, R. and Friedman, J.M. and Langlois, S. and Lewis, M.E.S. and Van Allen, M. and Somerville, M. and Arbour, L. and Clarke, L. and McGilivray, B. and Yong, S.L. and Siegel-Bartel, J. and Rajcan-Separovic, E.
DOI: 10.1002/ajmg.a.31015
2005

Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human a-L-iduronidase (laronidase)
Journal of Pediatrics
Wraith, J.E. and Clarke, L.A. and Beck, M. and Kolodny, E.H. and Pastores, G.M. and Muenzer, J. and Rapoport, D.M. and Berger, K.I. and Swiedler, S.J. and Kakkis, E.D. and Braakman, T. and Chadbourne, E. and Walton-Bowen, K. and Cox, G.F.
DOI: 10.1016/j.jpeds.2004.01.046
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.
2004

Pseudo-lysosomal storage disease caused by EMLA cream
Journal of Inherited Metabolic Disease
Vallance, H. and Chaba, T. and Clarke, L. and Taylor, G.
DOI: 10.1023/B:BOLI.0000037352.98317.5a
2004

Spasms in children with definite and probable mitochondrial disease
European Journal of Neurology
Sadleir, L.G. and Connolly, M.B. and Applegarth, D. and Hendson, G. and Clarke, L. and Rakshi, C. and Farrell, K.
DOI: 10.1046/j.1351-5101.2003.00724.x
2004

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with leber hereditary optic neuropathy
American Journal of Human Genetics
Howell, N. and Oostra, R.-J. and Bolhuis, P.A. and Spruijt, L. and Clarke, L.A. and Mackey, D.A. and Preston, G. and Herrnstadt, C.
DOI: 10.1086/375537
2003

Family 39 a-L-iduronidases and ß-D-xylosidases react through similar glycosyl-enzyme intermediates: Identification of the human iduronidase nucleophile
Biochemistry
Nieman, C.E. and Wong, A.W. and He, S. and Clarke, L. and Hopwood, J.J. and Withers, S.G.
DOI: 10.1021/bi034293v
2003

Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly
Journal of Pediatric Gastroenterology and Nutrition
Gillett, P.M. and Schreiber, R.A. and Jevon, G.P. and Israel, D.M. and Warshawski, T. and Vallance, H. and Clarke, L.A.
DOI: 10.1097/00005176-200108000-00025
2001

Recombinant proteins for genetic disease
Clinical Genetics
Russell, C.S. and Clarke, L.A.
DOI: 10.1034/j.1399-0004.1999.550601.x
1999

Murine MPS I: Insights into the pathogenesis of Hurler syndrome
Clinical Genetics
Russell, C. and Hendson, G. and Jevon, G. and Matlock, T. and Yu, J. and Aklujkar, M. and Ng, K.-Y. and Clarke, L.A.
1998

Murine mucopolysaccharidosis type I: Targeted disruption of the murine a-L-iduronidase gene
Human Molecular Genetics
Clarke, L.A. and Russell, C.S. and Pownall, S. and Warrington, C.L. and Borowski, A. and Dimmick, J.E. and Toone, J. and Jirik, F.R.
DOI: 10.1093/hmg/6.4.503
1997

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
American Journal of Human Genetics
Muenke, M. and Gripp, K.W. and McDonald-McGinn, D.M. and Gaudenz, K. and Whitaker, L.A. and Bartlett, S.P. and Markowitz, R.I. and Robin, N.H. and Nwokoro, N. and Mulvihill, J.J. and Losken, H.W. and Mulliken, J.B. and Guttmacher, A.E. and Wilroy, R.S. and Clarke, L.A. and Hollway, G. and Adès, L.C. and Haan, E.A. and Mulley, J.C. and Cohen Jr., M.M. and Bellus, G.A. and Francomano, C.A. and Moloney, D.M. and Wall, S.A. and Wilkie, A.O.M. and Zackai, E.H.
1997

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
Nature Genetics
Bellus, G.A. and Gaudenz, K. and Zackai, E.H. and Clarke, L.A. and Szabo, J. and Francomano, C.A. and Muenke, M.
DOI: 10.1038/ng1096-174
1996

Isolated mitochondria from frozen muscle have limited value in diagnostics
European Journal of Pediatrics
Scholte, H.R. and Trijbels, J.M.F. and Applegarth, D.A. and Tong, T. and Clarke, L.A.
DOI: 10.1007/BF01972981
1995

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications
Human Mutation
Scott, H.S. and Bunge, S. and Gal, A. and Clarke, L.A. and Morris, C.P. and Hopwood, J.J.
DOI: 10.1002/humu.1380060403
1995

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.
Arteriosclerosis and thrombosis : a journal of vascular biology
Gagné E and Genest J and Zhang H and Clarke LA and Hayden MR
DOI: 10.1161/01.atv.14.8.1250
PubMed: 8049185
08/1994

Erratum: Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm (Nature Genetics (1994) 6 (409-413))
Nature Genetics
Telenius, H. and Kremer, B. and Goldberg, Y.P. and Theilmann, J. and Andrew, S.E. and Zeisler, J. and Adam, S. and Greenberg, C. and Ives, E.J. and Clarke, L.A. and Hayden, M.R.
1994

Stability of frozen muscle used for mitochondrial enzyme assays
European Journal of Pediatrics
Applegarth, D.A. and Tong, T. and Clarke, L.A.
DOI: 10.1007/BF01959232
1994

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
Nature Genetics
Telenius, H. and Kremer, B. and Goldberg, Y.P. and Theilmann, J. and Andrew, S.E. and Zeisler, J. and Adam, S. and Greenberg, C. and Ives, E.J. and Clarke, L.A. and Hayden, M.R.
DOI: 10.1038/ng0494-409
1994

Reports: Linkage of pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity
Human Molecular Genetics
Robin, N.H. and Feldman, G.J. and Mitchell, H.F. and Lorenz, P. and Wilroy, R.S. and Zackal, E.H. and Aiianson, J.E. and Reich, E.W. and Pfeiffer, R.A. and Clarke, L.A. and Warmani, M.L. and Mulliken, J.B. and Brueton, L.A. and Winter, R.M. and Price, R.A. and Gasser, D.L. and Muenke, M.
DOI: 10.1093/hmg/3.12.2153
1994

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia
Arteriosclerosis, Thrombosis, and Vascular Biology
Gagné, E. and Genest Jr., J. and Zhang, H. and Clarke, L.A. and Hayden, M.R.
1994

Tetrasomy 12p (Pallister-Killian syndrome): Ultrasound indicators and confirmation by interphase fish
Prenatal Diagnosis
Wilson, R.D. and Harrison, K. and Clarke, L.A. and Yong, S.L.
DOI: 10.1002/pd.1970140904
1994

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations
Human Mutation
Clarke, L.A. and Nelson, P.V. and Warrington, C.L. and Morris, C.P. and Hopwood, J.J. and Scott, H.S.
DOI: 10.1002/humu.1380030316
1994

Murine a-l-Iduronidase: cDNA Isolation and Expression
Genomics
Clarke, L.A. and Nasir, J. and Zhang, H. and McDonald, H. and Applegarth, D.A. and Hayden, M.R. and Toone, J.
DOI: 10.1006/geno.1994.1621
1994

A PCR method for accurate assessment of trinucleotide repeat expansion in huntington disease
Human Molecular Genetics
Goldberg, Y.P. and Andrew, S.E. and Clarke, L.A. and Hayden, M.R.
DOI: 10.1093/hmg/2.6.635
1993

Two novel mutations causing mucopolysaccharidosis type i detected by single strand conformational analysis of the a-L-iduronidase gene
Human Molecular Genetics
Clarke, L.A. and Scott, H.S.
DOI: 10.1093/hmg/2.8.1311
1993

A transcription map of the region containing the huntington disease gene
Human Molecular Genetics
Rommens, J.M. and Lin, B. and Hutchinson, G.B. and Andrew, S.E. and Goldberg, Y.P. and Glaves, M.L. and Graham, R. and Lal, V. and Mcarthur, J. and Nasir, J. and Theilmann, J. and Mcdonald, H. and Kalchman, M. and Clarke, L.A. and Schappert, K. and Hayden, M.R.
DOI: 10.1093/hmg/2.7.901
1993

Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease
Nature
Goldberg, Y.P. and Rommens, J.M. and Andrew, S.E. and Hutchinson, G.B. and Lin, B. and Theilmann, J. and Graham, R. and Glaves, M.L. and Starr, E. and McDonald, H. and Nasir, J. and Schappert, K. and Kalchman, M.A. and Clarke, L.A. and Hayden, M.R.
1993

Erratum: A transcription map of the region containing the Huntington disease gene (Human molecular genetics (1993) 2 (901-907))
Human Molecular Genetics
Rommens, J.M. and Lin, B. and Hutchinson, G.B. and Andrew, S.E. and Goldberg, Y.P. and Glaves, M.L. and Graham, R. and Lai, V. and McArthur, J. and Nasir, J. and Theilmann, J. and McDonald, H. and Kalchman, M. and Clarke, L.A. and Schappert, K. and Hayden, M.R.
1993

Long term survival of an infant with sirenomelia
American Journal of Medical Genetics
Clarke, L.A. and Stringer, D.A. and Fraser, G.C. and Siu Li Yong
DOI: 10.1002/ajmg.1320450303
1993

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.
American journal of human genetics
Mashima Y and Murakami A and Weleber RG and Kennaway NG and Clarke L and Shiono T and Inana G
PubMed: 1609808
07/1992

Mitochondrial disorders in pediatrics. Clinical, biochemical, and genetic implications.
Pediatric clinics of North America
Clarke LA
DOI: 10.1016/s0031-3955(16)38297-9
PubMed: 1553246
04/1992

Cloning and mapping of the a-adducin gene close to D4S95 and assessment of its relationship to huntington disease
Human Molecular Genetics
Goldberg, Y.P. and Lin, B.-Y. and Andrew, S.E. and Nasir, J. and Graham, R. and Glaves, M.L. and Hutchinson, G. and Theilmann, J. and Ginzinger, D.G. and Schappert, K. and Clarke, L. and Rommens, J.M. and Hayden, M.R.
DOI: 10.1093/hmg/1.9.669
1992

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy
American Journal of Human Genetics
Mashima, Y. and Murakami, A. and Weleber, R.G. and Kennaway, N.G. and Clarke, L. and Shiono, T. and Inana, G.
1992

Mitochondrial disorders in pediatrics: Clinical, biochemical, and genetic implications
Pediatric Clinics of North America
Clarke, L.A.
1992

A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.
The New England journal of medicine
Ma Y and Henderson HE and Murthy V and Roederer G and Monsalve MV and Clarke LA and Normand T and Julien P and Gagné C and Lambert M
DOI: 10.1056/nejm199106203242502
PubMed: 2038366
06/1991

A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians
New England Journal of Medicine
Ma, Y. and Henderson, H.E. and Ven Murthy, M.R. and Roederer, G. and Monsalve, M.V. and Clarke, L.A. and Normand, T. and Julien, P. and Gagné, C. and Lambert, M. and Davignon, J. and Lupien, P.J. and Brunzell, J. and Hayden, M.R.
1991

Sudden, unexpected, natural death in childhood
Fetal and Pediatric Pathology
Norman, M.G. and Taylor, G.P. and Clarke, L.A.
DOI: 10.3109/15513819009064711
1990

Crystal diaper syndrome.
CMAJ : Canadian Medical Association journal = journal de l"Association medicale canadienne
Clarke, L.A. and Applegarth, D.A.
1989

Hyperuricemia in disorders of fatty acid oxidation.
Clinical chemistry
Cole DE and Clarke LA and McPhee MD and Marie MS
PubMed: 3359635
04/1988