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

The Clinic Is My Laboratory: Life as a Clinical Geneticist
Annual Review of Genomics and Human Genetics
Judith G. Hall
DOI: 10.1146/annurev-genom-091416-035213
08/2017

Be prepared for prenatal diagnosis
European Journal of Human Genetics
Judith G Hall
DOI: 10.1038/ejhg.2017.67
06/2017

Reflections on an academic career
Molecular Genetics & Genomic Medicine
Judith G. Hall
DOI: 10.1002/mgg3.298
05/2017

Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita
American Journal of Medical Genetics Part A
Hirmand Nouraei, Bonita Sawatzky, Megan MacGillivray, Judith Hall
DOI: 10.1002/ajmg.a.38169
04/2017

Genetics and Classifications
Journal of Pediatric Orthopaedics
Judith G. Hall, Eva Kimber, Harold J. P. van Bosse
DOI: 10.1097/bpo.0000000000000997
2017

Background to the 2nd International Symposium on Arthrogryposis
Journal of Pediatric Orthopaedics
Ruth Lester, Judith G. Hall, Eva Pontén, Harold J.P. van Bosse
DOI: 10.1097/bpo.0000000000000996
2017

The early history of Pallister–Hall syndrome—Buried treasure of a sort
Gene
J.G. Hall
DOI: 10.1016/j.gene.2016.01.003
09/2016

Using the skills of academic elders
South African Medical Journal
Judith Hall
DOI: 10.7196/samj.2016.v106i6.11023
05/2016

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

Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17-19, 2014
American Journal of Medical Genetics Part A
Judith G. Hall, Olga Agranovich, Eva Pontén, Harold J. P. van Bosse
DOI: 10.1002/ajmg.a.36938
04/2015

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification
American Journal of Medical Genetics Part A
Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall, Lisa Baumbach-Reardon
DOI: 10.1002/ajmg.a.36934
03/2015

Pallister-Hall syndrome has gone the way of modern medical geneticsAMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Judith G. Hall
DOI: 10.1002/ajmg.c.31419
11/2014

Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.36731
08/2014

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles
European Journal of Medical Genetics
Judith G. Hall
DOI: 10.1016/j.ejmg.2014.03.008
08/2014

Fetal akinesia deformation sequence: Expanding the phenotypic spectrum
American Journal of Medical Genetics Part A
Shalini S. Nayak, Rajagopal Kadavigere, Mary Mathew, Pratap Kumar, Judith G. Hall, Katta M. Girisha
DOI: 10.1002/ajmg.a.36673
07/2014

Gender and Generational Influences on the Pediatric Workforce and Practice
PEDIATRICS
N. D. Spector, W. Cull, S. R. Daniels, J. Gilhooly, J. Hall, I. Horn, S. G. Marshall, D. J. Schumacher, T. C. Sectish, B. F. Stanton
DOI: 10.1542/peds.2013-3016
05/2014

Judith G. Hall: a genetic journey
Genetics in Medicine
Judith G. Hall
DOI: 10.1038/gim.2014.43
05/2014

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
The American Journal of Human Genetics
Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi I.S. Gildersleeve, Mariana I. Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott Sherr, Miranda Splitt, Helen Stewart, Constance Stumpel, Sehime G. Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad
DOI: 10.1016/j.ajhg.2014.03.015
05/2014

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
Judith G. Hall
DOI: 10.1002/ajmg.a.36397
01/2014

Epigenetics: What does it mean for paediatric practice?
Paediatrics & Child Health
Judith G Hall
DOI: 10.1093/pch/19.1.27
01/2014

Amyoplasia revisited
American Journal of Medical Genetics Part A
Judith G. Hall, Kimberly A. Aldinger, Kimi I. Tanaka
DOI: 10.1002/ajmg.a.36395
01/2014

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotypeMutations inKIF14a cause of an autosomal recessive fetal ciliopathy phenotype
Clinical Genetics
I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny, J.M. Friedman
DOI: 10.1111/cge.12301
11/2013

Elements of morphology: General terms for congenital anomalies
American Journal of Medical Genetics Part A
Raoul C. Hennekam, Leslie G. Biesecker, Judith E. Allanson, Judith G. Hall, John M. Opitz, I Karen Temple, John C. Carey, Elements of Morphology Consortium
DOI: 10.1002/ajmg.a.36249
10/2013

The role of patient advocacy/parent support groups
South African Medical Journal
Judith G Hall
DOI: 10.7196/samj.6976
10/2013

The smallest of the small
Gene
Judith G. Hall
DOI: 10.1016/j.gene.2013.03.081
10/2013

A mutation inTGFB3associated 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
Hugh Young Rienhoff, Chang-Yeol Yeo, Rachel Morissette, Irina Khrebtukova, Jonathan Melnick, Shujun Luo, Nan Leng, Yeon-Jin Kim, Gary Schroth, John Westwick, Hannes Vogel, Nazli McDonnell, Judith G. Hall, Malcolm Whitman
DOI: 10.1002/ajmg.a.36056
07/2013

Trajectory of an Academic CareerThe Coming of Age of Academic Pediatricians
JAMA Pediatrics
Judith G. Hall
DOI: 10.1001/jamapediatrics.2013.1189
02/2013

Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.35788
02/2013

Failure to identify antenatal multiple congenital contractures and fetal akinesia - proposal of guidelines to improve diagnosisDisorders of fetal movement - proposal of guidelines
Prenatal Diagnosis
Isabel Filges, Judith G. Hall
DOI: 10.1002/pd.4011
01/2013

An Ongoing Epidemic of Birth Defects
Pharmacology & Pharmacy
Gladys Cossio, Alberto Bissot, Mireya de Rivas, Luis Morales, Paul Gallardo, David Ellis, Judith Hal
DOI: 10.4236/pp.2013.43045
2013

Special section. Syndrome-specific growth charts
American Journal of Medical Genetics Part A
Judith G. Hall, Judith E. Allanson, Karen W. Gripp, Anne M. Slavotinek
DOI: 10.1002/ajmg.a.35704
10/2012

Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.35531
08/2012

We are failing to identify disorders of fetal movement - why?We are failing to identify disorders of fetal movement - why?
Prenatal Diagnosis
Isabel Filges, Judith G. Hall
DOI: 10.1002/pd.3944
07/2012

Obituary: Dr. David L. Rimoin
Clinical Genetics
Judith G. Hall
DOI: 10.1111/j.1399-0004.2012.01920.x
07/2012

Uterine structural anomalies and arthrogryposis-death of an urban legend
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.35683
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

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
R. Brian Lowry, Barbara Sibbald, Tanya Bedard, Judith G. Hall
DOI: 10.1002/bdra.20738
11/2010

Importance of Muscle Movement for Normal Craniofacial Development
Journal of Craniofacial Surgery
Judith G. Hall
DOI: 10.1097/scs.0b013e3181ebcd4f
09/2010

New palpebral fissure measurements
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.33430
06/2010

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
Judith G. Hall
DOI: 10.1002/ajmg.a.33251
02/2010

Pena-Shokeir phenotype (Fetal akinesia deformation sequence) revisited
Birth Defects Research Part A: Clinical and Molecular Teratology
Judith G. Hall
DOI: 10.1002/bdra.20611
07/2009

Victor A. McKusick, M.D.: A clinician's clinician
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.32583
06/2009

Ambulatory Activity in Youth With ArthrogryposisA Cohort Study
Journal of Pediatric Orthopaedics
Erin R. Dillon, Kristie F. Bjornson, Kenneth M. Jaffe, Judith G. Hall, Kit Song
DOI: 10.1097/bpo.0b013e3181990214
03/2009

Elements of morphology: Standard terminology for the nose and philtrum
American Journal of Medical Genetics Part A
Raoul C.M. Hennekam, Valerie Cormier-Daire, Judith G. Hall, Károly Méhes, Michael Patton, Roger E. Stevenson
DOI: 10.1002/ajmg.a.32600
01/2009

50 Years Ago in The Journal of Pediatrics
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1016/j.jpeds.2008.05.007
11/2008

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

Localized acalvaria with craniosynostosis
Clinical Dysmorphology
Eissa Faqeih, Zoltan Patay, Zuhair Rahbeeni, Jamila Murtada, Essam Al Shail, Judith G. Hall
DOI: 10.1097/mcd.0b013e3282f4a10e
07/2008

Multifactorial inheritance of non-syndromic macrocephaly
Clinical Genetics
L. Arbour, G. V. Watters, J. G. Hall, F. C. Fraser
DOI: 10.1111/j.1399-0004.1996.tb02349.x
06/2008

Mild expression of the Pfeiffer syndrome
Clinical Genetics
Judith G. Hall
DOI: 10.1111/j.1399-0004.1988.tb02853.x
06/2008

Familial limb deficiency
Clinical Genetics
Alex Hoon, Judith G. Hall
DOI: 10.1111/j.1399-0004.1988.tb02851.x
06/2008

Somatic and germ-line mosaicism in autosomal dominant antecubital pterygium
Clinical Genetics
Judith Hall
DOI: 10.1111/j.1399-0004.1990.tb03496.x
06/2008

Partial deletion of the short arm of chromosome 3 (3p25 ¿ 3pter) Further delineation of the clinical phenotype
Clinical Genetics
David R. Witt, Brian Biedermann, Judith G. Hall
DOI: 10.1111/j.1399-0004.1985.tb02283.x
06/2008

Chromosomal abnormalities associated with congenital contractures (arthrogryposis)
Clinical Genetics
S. D. Reed, J. G. Hall, V. M. Riccardi, A. Aylsworth, C. Timmons
DOI: 10.1111/j.1399-0004.1985.tb02278.x
06/2008

Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet
Clinical Genetics
David Chitayat, Ellen B. Davis, Barbara C. McGillivray, Michael R. Hayden, Judith G. Hall
DOI: 10.1111/j.1399-0004.1989.tb02923.x
06/2008

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome
Clinical Genetics
R. Rizzo, L. Pavone, G. Micali, J. G. Hall
DOI: 10.1111/j.1399-0004.1993.tb03832.x
04/2008

Three distinct types of X-linked arthrogryposis seen in 6 families
Clinical Genetics
J. G. Hall, S. D. Reed, C. I. Scott, J. O. Rogers, K. L. Jones, A. Camarano
DOI: 10.1111/j.1399-0004.1982.tb00742.x
04/2008

Diagnostic considerations in arthrogry-posis syndromes in South Africa
Clinical Genetics
G. S. Gericke, J. G. Hall, M. M. Nelson, P. H. Beighton
DOI: 10.1111/j.1399-0004.1984.tb00478.x
04/2008

Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal- spondyloperipheral dysplasia
Clinical Genetics
V. P. Sybert, P. H. Byers, J. G. Hall
DOI: 10.1111/j.1399-0004.1979.tb01755.x
04/2008

Fetal mortality in sibships of cases with neural tube defects
Clinical Genetics
A. D. Sadovnick, B. Keena, P. A. Baird, J. G. Hall
DOI: 10.1111/j.1399-0004.1986.tb00512.x
04/2008

Amniotic fluid cell mosaicism for presumptive trisomy 20
Clinical Genetics
M. L. Rodriguhz, D. Luthy, J. G. Hall, T. H. Norwood, H. Hoehn
DOI: 10.1111/j.1399-0004.1978.tb04245.x
04/2008

Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and deletion 10q
Clinical Genetics
L. M. Larson, W. A. Wasdahl, J. H. Saumur, M. L. Coleman, J. G. Hall, C. R. Dolan, C. J. Schutta
DOI: 10.1111/j.1399-0004.1982.tb00962.x
04/2008

Letter to the Editors
Clinical Genetics
Judith G. Hall, Robert C. Hauck
DOI: 10.1111/j.1399-0004.1981.tb00699.x
04/2008

Isolated congenital ectopia lentis with autosomal dominant inheritance
Clinical Genetics
Beth M. Jaureouy, Judith G. Hall
DOI: 10.1111/j.1399-0004.1979.tb02033.x
04/2008

Dominantly inherited ptosis, strabismus and ectopic pupils
Clinical Genetics
Elspeth McPherson, Christine Robertson, Ann Cammarano, Judith G. Hall
DOI: 10.1111/j.1399-0004.1976.tb00004.x
04/2008

Additional information on familial essential (benign) chorea
Clinical Genetics
Thomas D. Bird, Judith G. Hall
DOI: 10.1111/j.1399-0004.1978.tb02146.x
04/2008

Growth curves for height in Noonan syndrome
Clinical Genetics
David R. Witt, Beth A. Keena, Judith G. Hall, Judith E. Allanson
DOI: 10.1111/j.1399-0004.1986.tb00587.x
04/2008

No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome
Clinical Genetics
Jane L. Burns, Judith G. Hall, Ellen Powers, James B. Callis, Holger Hoehn
DOI: 10.1111/j.1399-0004.1979.tb02025.x
04/2008

An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome)
Clinical Genetics
David Kurnit, Judith G. Hall, David B. Shurtleff, M. Michael Cohen Jr.
DOI: 10.1111/j.1399-0004.1979.tb01006.x
04/2008

Prenatal diagnosis of thrombocytopenia with absent radii
Clinical Genetics
DavidA. Luthy, JudithG. Hall, C. Benjamin Graham
DOI: 10.1111/j.1399-0004.1979.tb00831.x
04/2008

Achondroplasia
The Lancet
William A Horton, Judith G Hall, Jacqueline T Hecht
DOI: 10.1016/s0140-6736(07)61090-3
07/2007

Arthrogryposis Multiplex Congenita (Amyoplasia)An Orthopaedic Perspective
Journal of Pediatric Orthopaedics
Wesley P. Bevan, Judith G. Hall, Micheal Bamshad, Lynn T. Staheli, Kenneth M. Jaffe, Kit Song
DOI: 10.1097/bpo.0b013e318070cc76
07/2007

The importance of the fetal origins of adult disease for geneticists
Clinical Genetics
JG Hall
DOI: 10.1111/j.1399-0004.2007.00842.x
07/2007

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1
Journal of Medical Genetics
E Rajcan-Separovic, C Harvard, X Liu, B McGillivray, J G Hall, Y Qiao, J Hurlburt, J Hildebrand, E C R Mickelson, J J A Holden, M E S Lewis
DOI: 10.1136/jmg.2006.045013
04/2007

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
The American Journal of Human Genetics
Eva Klopocki, Harald Schulze, Gabriele Strauß, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luitgard M. Neumann, Rolf Habenicht, Rainer König, Eva Seemanova, André Megarbane, Hans-Hilger Ropers, Reinhard Ullmann, Denise Horn, Stefan Mundlos
DOI: 10.1086/510919
02/2007

A meeting of minds: interdisciplinary research in the health sciences in Canada
Canadian Medical Association Journal
J. G. Hall
DOI: 10.1503/cmaj.060783
09/2006

Editorial independence for CMAJ: signposts along the road
Canadian Medical Association Journal
N. MacDonald
DOI: 10.1503/cmaj.060985
08/2006

Preparing a manuscript for publication: A user-friendly guide
Paediatrics & Child Health
Noni E MacDonald, Lee Ford-Jones, Jeremy N Friedman, Judith Hall
DOI: 10.1093/pch/11.6.339
07/2006

Festschrift reflection
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.31040
01/2006

Proteus syndrome: A syndrome named after a Greek god
Paediatiki
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]
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.31301
2006

Epigenetics is Here to Stay
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1016/j.jpeds.2005.04.011
10/2005

Health Supervision for Children With Achondroplasia
PEDIATRICS
T. L. Trotter
DOI: 10.1542/peds.2005-1440
09/2005

The Challenge of Developing Career Pathways for Senior Academic Pediatricians
Pediatric Research
Judith G Hall
DOI: 10.1203/01.pdr.0000158014.46884.e5
06/2005

Pediatricians beware: The age of ARTs is upon us
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1016/j.jpeds.2005.01.041
04/2005

Introductory Speech for Robert J. Gorlin*
The American Journal of Human Genetics
Judith G. Hall
DOI: 10.1086/427837
02/2005

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 Part A
Stavit A. Shalev, Ronen Spiegel, Judith G. Hall
DOI: 10.1002/ajmg.a.30932
2005

Re: Distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.30325
2005

Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181-190]
American Journal of Medical Genetics Part A
Judith G. Hall
DOI: 10.1002/ajmg.a.30633
2005

Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis
Clinical Dysmorphology
Stephanie Burns Wechsler, Jessica A. Lehoczky, Judith G. Hall, Jeffrey W. Innis
DOI: 10.1097/00019605-200404000-00002
04/2004

How is the progress in genetics relevant to children's health care
Paediatrics & Child Health
Judith G Hall
DOI: 10.1093/pch/9.4.213
04/2004

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings
American Journal of Medical Genetics
Judith G. Hall, Christina Flora, Charles I. Scott, Richard M. Pauli, 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, Judith G. Hall
DOI: 10.1002/ajmg.a.30192
2004

Re: Down syndrome and folic acid deficiency
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/ajmg.a.30364
2004

Long-term follow-up of three individuals with Kabuki syndrome
American Journal of Medical Genetics
Stavit A. Shalev, Lorne A. Clarke, David Koehn, Sylvie Langlois, Elaine H. Zackai, Judith G. Hall, Donna M. Mcdonald McGinn
DOI: 10.1002/ajmg.a.20375
2004

RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132-135.]
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/ajmg.a.30101
2004

Klinefelter syndrome: Expanding the phenotype and identifying new research directions
Genetics in Medicine
Joe Leigh Simpson, Felix de la Cruz, Ronald S Swerdloff, Carole Samango-Sprouse, Niels E Skakkebaek, John M Graham, Terry Hassold, Melissa Aylstock, Heino F L Meyer-Bahlburg, Huntington F Willard, Judith G Hall, Wael Salameh, Kyle Boone, Catherine Staessen, Dan Geschwind, Jay Giedd, Adrian S Dobs, Alan Rogol, Bonnie Brinton, C Alvin Paulsen
DOI: 10.1097/01.gim.0000095626.54201.d0
11/2003

Twinning
The Lancet
Judith G Hall
DOI: 10.1016/s0140-6736(03)14237-7
08/2003

Another adult with Meier-Gorlin syndrome - insights into the natural history
Clinical Dysmorphology
Stavit A. Shalev, Judith G. Hall
DOI: 10.1097/01.mcd.0000065052.36236.32
07/2003

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports
American Journal of Medical Genetics
Art Aylsworth, John M. Graham, Judith G. Hall, H. Eugene Hoyme, Kenneth Lyons Jones, Roger E. Stevenson
DOI: 10.1002/ajmg.a.10185
04/2003

A clinician's plea
Nature Genetics
Judith G. Hall
DOI: 10.1038/ng0403-440
04/2003

Poland anomaly--report of an unusual family
American Journal of Medical Genetics
Stavit A. Shalev and Judith G. Hall
DOI: 10.1002/ajmg.a.10145
03/2003

So you think your mother is always looking over your shoulder?—She may be in your shoulder!
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1067/mpd.2003.150
03/2003

American Pediatric Society Presidential Address 2002: The Third Third
Pediatric Research
Judith G Hall
DOI: 10.1203/01.pdr.0000052078.18329.d3
03/2003

Morphogenesis: clinical natural history and imaging information on patients included in reports
Pediatric Radiology
Art Alysworth, John Graham, Judith G. Hall, Eugene Hoyme, Ken Jones, Roger Stevenson
DOI: 10.1007/s00247-002-0835-z
02/2003

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

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

Lifeline
The Lancet
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

Detection of Y-specific sequences in patients with Turner syndrome
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/ajmg.10812
11/2002

Don't use the term ?amyoplasia? loosely
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/ajmg.10571
07/2002

Clinical and radiologic information or photographs
Pediatric Radiology
Judith G. Hall
DOI: 10.1007/s00247-002-0700-0
03/2002

The very youngest science
CMAJ
Sinclair, Alison and Hall, Judith
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
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1016/s0022-3476(00)90042-8
01/2000

Folic acid: the opportunity that still exists
CMAJ
Hall, Judith G.
2000

See One, Do One, Teach One
Pediatrics
Judith G. Hall
DOI: 10.1542/peds.103.1.155
01/1999

U-P- What?
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1016/s0022-3476(99)70364-1
01/1999

Human Diseases and Genomic Imprinting
Genomic Imprinting
Judith G. Hall
DOI: 10.1007/978-3-540-69111-2_6
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
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1016/s0022-3476(98)70169-6
07/1998

Folic acid for the prevention of congenital anomalies
European Journal of Pediatrics
J. Hall, F. Solehdin
DOI: 10.1007/s004310050850
05/1998

Genetics of neural tube defects
Mental Retardation and Developmental Disabilities Research Reviews
Judith G. Hall, Fatima Solehdin
DOI: 10.1002/(sici)1098-2779(1998)4:43.0.co;2-8
1998

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

Mendel might get dizzy
Canadian Medical Association Journal
12/1997

Terathanasia, folic acid, and birth defects
The Lancet
Judith G Hall
DOI: 10.1016/s0140-6736(97)26044-7
11/1997

The Impact of Birth Defects and Genetic Diseases
Archives of Pediatrics & Adolescent Medicine
Judith G. Hall
DOI: 10.1001/archpedi.1997.02170480012002
11/1997

Arthrogryposis Multiplex CongenitaEtiology, Genetics, Classification, Diagnostic Approach, and General Aspects
Journal of Pediatric Orthopaedics B
Judith G. Hall
DOI: 10.1097/01202412-199707000-00002
07/1997

Mosaicism in pseudoachondroplasia
American Journal of Medical Genetics
Heather L. Ferguson, Michelle Deere, Randall Evans, Julie Rotta, Judith G. Hall, Jacqueline T. Hecht
DOI: 10.1002/(sici)1096-8628(19970613)70:33.3.co;2-2
06/1997

Photographic documentation of syndrome diagnosis
American Journal of Medical Genetics
Judith Allanson, Alasdair Hunter, Suzanne Cassidy, Cynthia Curry, Dian Donnai, Clarke Fraser, Robert Gorlin, John Graham, Bryan Hall, Judith Hall, Kenneth Lyons Jones, Roger Stevenson, Robin Winter
DOI: 10.1002/(sici)1096-8628(19970211)68:43.0.co;2-n
02/1997

Give the embryo a chance
Nature Medicine
Judith G. Hall
DOI: 10.1038/nm0197-24
01/1997

Uniparental Disomy
Hong Kong Journal of Paediatrics
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

Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins
Pediatric Radiology
author= {Hall, J. G. and Lopez-Rangel, E.}
DOI: 10.1007/s002470050160
1997

Segregation analysis of microcephaly
American Journal of Medical Genetics
Tirza Cohen, Moshe Zeitune, Barbara C. McGillivray, Judith G. Hall, Audrey H. Lynn, Christopher E. Aston, Aravinda Chakravarti
DOI: 10.1002/(sici)1096-8628(19961028)65:33.3.co;2-2
10/1996

Report from the workshop on Pallister-Hall syndrome and related phenotypes
American Journal of Medical Genetics
Leslie G. Biesecker, Margaret Abbott, Jeffrey Allen, Carol Clericuzio, Penelope Feuillan, John M. Graham, Judith Hall, Seongman Kang, Ann Haskins Olney, Daniel Lefton, Giovani Neri, Kathryn Peters, Alain Verloes
DOI: 10.1002/(sici)1096-8628(19961002)65:13.0.co;2-o
10/1996

Twinning: mechanisms and genetic implications
Current Opinion in Genetics & Development
Judith G Hall
DOI: 10.1016/s0959-437x(96)80012-8
06/1996

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, Richard L. Wesenberg, Judith G. Hall
DOI: 10.1002/(sici)1096-8628(19960503)63:13.3.co;2-e
05/1996

Arthrogryposis associated with unsuccessful attempts at termination of pregnancy
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/(sici)1096-8628(19960503)63:13.0.co;2-g
05/1996

Twins and twinning
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/(sici)1096-8628(19960122)61:33.0.co;2-w
01/1996

Medial-Approach Open Reduction of Hip Dislocation in Amyoplasia-Type Arthrogryposis
Journal of Pediatric Orthopaedics
George Szöke, Lynn T. Staheli, Kenneth Jaffe, Judith G. Hall
DOI: 10.1097/00004694-199601000-00026
01/1996

Amyoplasia, the Most Common Type of Arthrogryposis: The Potential for Good Outcome
Pediatrics
Sells, Jill M. and Jaffe, Kenneth M. and Hall, Judith G.
1996

The challenges and opportunities of times of change
American Journal of Human Genetics
1996

Genomic Imprinting
Acta Pharmaceutica Sinica
1996

Dominant distal arthrogryposis in a Maori family with marked variability of expression
American Journal of Medical Genetics
Patrick Klemp, Judith G. Hall
DOI: 10.1002/ajmg.1320550406
02/1995

Health Supervision for Children With Turner Syndrome
Pediatrics
,
1995

Information Update on Achondroplasia
Pediatrics
Hall, Judith G.
1995

Health Supervision for Children With Achondroplasia
Pediatrics
,
1995

Non-traditional forms of inheritance in skeletal dysplasias
Pediatric Radiology
J. G. Hall, E. Lopez-Rangel
DOI: 10.1007/bf02011905
11/1994

Recommendations for Diagnosis, Treatment, and Management of Individuals with Turner Syndrome
The Endocrinologist
Ron G. Rosenfeld, Lynn-Georgia Tesch, Luis J. Rodriguez-Rigau, Elizabeth McCauley, Kerstin Albertsson-Wikland, Ricardo Asch, Jose Cara, Felix Conte, Judith G. Hall, Barbara Lippe, Theodore C. Nagel, E. Kirk Neely, David C. Page, Michael Ranke, Paul Saenger, John M. Watkins, Darrell M. Wilson
DOI: 10.1097/00019616-199409000-00006
09/1994

Neural tube defects in British Columbia
The Lancet
Keith Chambers, James Popkin, William Arnold, Beverly Irwin, JudithG. Hall
DOI: 10.1016/s0140-6736(94)92743-x
02/1994

Mouse homologues of human hereditary disease.
Journal of Medical Genetics
A G Searle, J H Edwards, J G Hall
DOI: 10.1136/jmg.31.1.1
01/1994

Current management of meningomyelocele
BC Medical Journal
1994

Prenatal Genetic Diagnosis for Pediatricians
Pediatrics
,
1994

CATCH 22.
Journal of Medical Genetics
J G Hall
DOI: 10.1136/jmg.30.10.801
10/1993

Evidence for multi-site closure of the neural tube in humans
American Journal of Medical Genetics
Margot I. Van Allen, Dagmar K. Kalousek, Gerold F. Chernoff, Diana Juriloff, Muriel Harris, Barbara C. McGillivray, Siu-Li Yong, Sylvie Langlois, Patrick M. Macleod, David Chitayat, Jan M. Friedman, R. Doug Wilson, Deborah McFadden, J. Pantzar, Susan Ritchie, Judith G. Hall
DOI: 10.1002/ajmg.1320470528
10/1993

Genomic imprinting: Summary of an NICHD conference
American Journal of Medical Genetics
Golder N. Wilson, Judith G. Hall, Felix de la Cruz
DOI: 10.1002/ajmg.1320460614
07/1993

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
Journal of Medical Genetics
C T Schrander-Stumpel, C J Howeler, A D Reekers, N M De Smet, J G Hall, J P Fryns
DOI: 10.1136/jmg.30.1.78
01/1993

Folic Acid for the Prevention of Neural Tube Defects
Pediatrics
1993

Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines
Pediatrics
1993

Fetal hypokinesia sequence caused by maternal autoimmune disorder?
American Journal of Medical Genetics
Raoul C. M. Hennekam, J. J. Rotteveel, Judith G. Hall
DOI: 10.1002/ajmg.1320430630
08/1992

Genomic Imprinting and Its Clinical Implications
New England Journal of Medicine
Hall , Judith G.
DOI: 10.1056/NEJM199203193261210
1992

A new form of autosomal dominant arthrogryposis.
Journal of Medical Genetics
M M Lai, M A Tettenborn, J G Hall, L J Smith, A C Berry
DOI: 10.1136/jmg.28.10.701
10/1991

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

Genomic imprinting
Current Opinion in Genetics & Development
Judith G. Hall
DOI: 10.1016/0959-437x(91)80038-n
06/1991

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion
Human Genetics
Julie R. Korenberg, Dagmar K. Kalousek, Goran Anneren, Stefan-M. Pulst, Judith G. Hall, Charles J. Epstein, David R. Cox
DOI: 10.1007/bf00204163
06/1991

Genomic imprinting, monozygous twinning, and X inactivation
The Lancet
MarkS. Lubinsky, JudithG. Hall
DOI: 10.1016/0140-6736(91)92956-3
05/1991

Congenital Anomalies: An Increasingly Important Cause of Mortality and Workload in a Neonatal intensive Care Unit
American Journal of Perinatology
Emily Ling, Lourdes Sosuan, Judith Hall
DOI: 10.1055/s-2007-999369
05/1991

Neurofibromatosis I: Predicting the relation of gene structure to gene function
American Journal of Medical Genetics
Judith G. Hall, Judith E. Allanson
DOI: 10.1002/ajmg.1320380128
01/1991

Policy statement concerning DNA banking and molecular genetic diagnosis. Canadian College of Medical Geneticists
Clinical and investigative medicine. Medecine clinique et experimentale
1991

Syndrome of mental retardation and distal arthrogryposis in sibs
American Journal of Medical Genetics
David Chitayat, Kathy A. Hodgkinson, Shirley Blaichman, Moy-Fong Chen, Gordon V. Watters, Samir Khalife, Judith G. Hall
DOI: 10.1002/ajmg.1320410114
1991

Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs
American Journal of Medical Genetics
David Chitayat, Judith G. Hall, Robert M. Couch, Min S. Phang, Virginia J. Baldwin
DOI: 10.1002/ajmg.1320370116
09/1990

A sibship with Roberts/SC phocomelia syndrome
American Journal of Medical Genetics
Monica Holmes-Siedle, Agustin Seres-Santamaria, Mark Crocker, Judith G. Hall, Marion Crouchman
DOI: 10.1002/ajmg.1320370106
09/1990

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome
American Journal of Medical Genetics
David Chitayat, Avi Rothchild, Emily Ling, J. M. Friedman, Robert M. Couch, Siu-Li Yong, Virginia J. Baldwin, Judith G. Hall
DOI: 10.1002/ajmg.1320360412
08/1990

Could acrocallosal syndrome and Greig syndrome affect the same developmental gene?
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/ajmg.1320360331
07/1990

Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/ajmg.1320360332
07/1990

Genomic imprinting - review and relevance to human diseases
American Journal of Human Genetics
PubMed: 2187341
05/1990

The SNATIATION reflex.
Journal of Medical Genetics
J G Hall
DOI: 10.1136/jmg.27.4.275
04/1990

Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: Apparently new syndrome?
American Journal of Medical Genetics
David Chitayat, Barbara C. McGillivray, Ralph Rothstein, Olof Flodmark, Robert W. Priddy, Volker J. Ebelt, David S. Lirenman, Judith G. Hall
DOI: 10.1002/ajmg.1320350318
03/1990

Unilateral disomy as a possible explanation for Russell-Silver syndrome.
Journal of Medical Genetics
J G Hall
DOI: 10.1136/jmg.27.2.141-a
02/1990

Angelman's syndrome, abnormality of 15q11-13, and imprinting.
Journal of Medical Genetics
J G Hall
DOI: 10.1136/jmg.27.2.141
02/1990

Three-generation dominant transmission of the Silver-Russell syndrome
American Journal of Medical Genetics
Peter A. Duncan, Judith G. Hall, Lawrence R. Shapiro, Betsy K. Vibert
DOI: 10.1002/ajmg.1320350220
02/1990

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction
The Journal of Pediatrics
Michael G. Pike, Derek A. Applegarth, Henry G. Dunn, Stephen J. Bamforth, Aubrey J. Tingle, Betty J. Wood, James E. Dimmick, Heather Harris, Janet K. Chantler, Judith G. Hall
DOI: 10.1016/s0022-3476(05)81651-8
01/1990

A retrospective study of pregnancy complications among 828 cases of arthrogryposis
Genetic Counselling
1990

Congenital shortness of the costocoracoid ligament
American Journal of Medical Genetics
J. Stephen Bamforth, Michael H. Bell, Judith G. Hall, Robert B. Salter
DOI: 10.1002/ajmg.1320330404
08/1989

Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension
Journal of Neurosurgery
Paul Steinbok, Judith Hall, Olof Flodmark
DOI: 10.3171/jns.1989.71.1.0042
07/1989

Chromosome maps of man and mouse. IV
Annals of Human Genetics
A. G. SEARLE, J. PETERS, M. F. LYON, J. G. HALL, E. P. EVANS, J. H. EDWARDS, V. J. BUCKLE
DOI: 10.1111/j.1469-1809.1989.tb01777.x
05/1989

DETECTING MATERNAL CELL CONTAMINATION IN PRENATAL DIAGNOSIS
The Lancet
Ian Craig, Mark Ross, JohnH. Edwards, Neil Fraser, Judith Hall
DOI: 10.1016/s0140-6736(89)92468-9
05/1989

Joubert's Syndrome Associated With Congenital Ocular Fibrosis and Histidinemia
Archives of Neurology
R. E. Appleton, D. Chitayat, J. E. Jan, R. Kennedy, J. G. Hall
DOI: 10.1001/archneur.1989.00520410115035
05/1989

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
American Journal of Medical Genetics
J. Stephen Bamforth, Claire O. Leonard, Bernard N. Chodirker, David Chitayat, Hilda L. Gritter, Jane A. Evans, Beth Keena, Tapio Pantzar, Jan M. Friedman, Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320320120
01/1989

De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome
American Journal of Medical Genetics
David Chitayat, Carrie L. Fagerstrom, Dagmar K. Kalousek, Jack Rootman, Glenn P. Taylor, Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320320109
01/1989

Trisomy 11q: Features and prognosis
JAMA
1989

Encephalocraniocutaneous lipomatosis
Neurofibromatosis
PubMed: 2699567
1989

Comments on “amyoplasia congenita-like condition and maternal malathion exposure”: Is all amyoplasia amyoplasia?
Teratology
Judith G. Hall
DOI: 10.1002/tera.1420380515
11/1988

Bleeding diathesis in Noonan syndrome: A common association
American Journal of Medical Genetics
David R. Witt, Bardbara C. McGillivray, Judith E. Allanson, Helen E. Hughes, William E. Hathaway, Alvin Zipursky, Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320310208
10/1988

Congenital abnormalities in two sibs exposed to valproic acid in utero
American Journal of Medical Genetics
David Chitayat, Kevin Farrell, Linda Anderson, Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320310214
10/1988

Review and hypotheses: Somatic mosaicism: Observations related to clinical genetics
American Journal of Human Genetics
PubMed: 3052049
10/1988

ABNORMALITIES OF CORPUS CALLOSUM IN PATIENTS WITH INHERITED METABOLIC DISEASES
The Lancet
Fiona Bamforth, Stephen Bamforth, Kenneth Poskitt, Derek Applegarth, Judith Hall
DOI: 10.1016/s0140-6736(88)90437-0
08/1988

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

An unusual bandlike web in an infant with lethal multiple pterygium syndrome
American Journal of Medical Genetics
Ursula G. Froster-Iskenius, Cynthia Curry, Margaret Philp, Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320300310
07/1988

A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.
Journal of Medical Genetics
U G Froster-Iskenius, J R Waterson, J G Hall
DOI: 10.1136/jmg.25.2.104
02/1988

Kyphosis in achondroplasia: Probably preventable
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1016/s0022-3476(88)80157-4
01/1988

Clinical, genetic and epidemiological factors in neural tube defects
American Journal of Human Genetics
Judith G. Hall and J. M. Friedman and B A Kenna and Joel H. Popkin and Manveen Kaur Jawanda and Wolfgang Arnold
1988

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

Juvenile galactosialidosis in a white male: A new variant
American Journal of Medical Genetics
David Chitayat, Derek A. Applegarth, Joyce Lewis, James E. Dimmick, Andrew Q. McCormick, Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320310423
1988

Gonadal mosaicism in pseudoachondroplasia
American Journal of Medical Genetics
Judith G. Hall, John P. Dorst, Julie Rotta, Victor A. McKusick, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320280121
09/1987

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature
American Journal of Medical Genetics
David R. Witt, H. Eugene Hoyme, Jonathan Zonana, David K. Manchester, Jean Pierre Fryns, J. Geoffrey Stevenson, Cynthia J. R. Curry, Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320270412
08/1987

False Negative Results in Patients with Fra(X)(Q) Mental Retardation Taking Oral Vitamin Supplements
New England Journal of Medicine
DOI: 10.1056/nejm198704233161716
04/1987

Use of genetic counselling services for neural tube defects
American Journal of Medical Genetics
A. D. Sadovnick, P. A. Baird, J. G. Hall, B. Keena, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320260407
04/1987

GENETICS OF TUBEROUS SCLEROSIS
The Lancet
JudithG. Hall, PeterH. Byers
DOI: 10.1016/s0140-6736(87)90396-5
03/1987

Thrombocytopenia and absent radius (TAR) syndrome.
Journal of Medical Genetics
J G Hall
DOI: 10.1136/jmg.24.2.79
02/1987

Thanatophoric dysplasia and cloverleaf skull
American Journal of Medical Genetics
Leonard O. Langer, S. Samuel Yang, Judith G. Hall, Annemarie Sommer, Sambasiva R. Kottamasu, Mahin Golabi, Natalie Krassikoff, John M. Opitz, Jay Bernstein
DOI: 10.1002/ajmg.1320280521
1987

Nosologic Grouping in Birth Defects
Human Genetics
J. M. Opitz, A. Czeizel, J. A. Evans, J. G. Hall, M. S. Lubinsky, J. W. Spranger
DOI: 10.1007/978-3-642-71635-5_49
1987

Risks to sibs of probands with neural tube defects: Data for clinic populations in British Columbia
American Journal of Medical Genetics
B. Keena, A. D. Sadovnick, P. A. Baird, J. G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320250320
11/1986

Genetic Counseling
JAMA: The Journal of the American Medical Association
Judith G. Hall
DOI: 10.1001/jama.1986.03380150101028
10/1986

Analysis of Pena Shokeir phenotype
American Journal of Medical Genetics
Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320250112
09/1986

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk
American Journal of Medical Genetics
C. O. M. V. Reid, J. G. Hall, Carol Anderson, Maureen Bocian, John Carey, Theresa Costa, Cynthia Curry, Frank Greenberg, William Horton, Marilyn Jones, Charlotte Lafer, Eunice Larson, Mark Lubinsky, Barbara McGillivray, Marcus Pembry, James Popkin, Mary Seller, Virginia Siebert, Arie Verhagen, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320240415
08/1986

Studies of human achondroplasia: Oxidative metabolism in tissue culture cells
Teratology
Bruce Mackler, Richard Grace, Kenneth A. Davis, Thomas H. Shepard, Judith G. Hall
DOI: 10.1002/tera.1420330103
02/1986

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin—Bell syndrome)
American Journal of Medical Genetics
U. Froster-Iskenius, B. C. McGillivray, F. J. Dill, J. G. Hall, D. S. Herbst, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320230156
01/1986

Obstetric and gynecologic problems in women with chondrodystrophies
Obstetrics & Gynecology
PubMed: 3940342
01/1986

Familial breast cancer in males:A case report and review of the literature
Cancer
Frederick K. Kozak, Judith G. Hall, Patricia A. Baird
DOI: 10.1002/1097-0142(19861215)58:123.0.co;2-a
1986

NEURAL TUBE DEFECTS, SEX RATIOS, AND X INACTIVATTON
The Lancet
JudithG. Hall
DOI: 10.1016/s0140-6736(86)91460-1
1986

Familial multiple exostoses—no chromosome 8 deletion observed
American Journal of Medical Genetics
Judith G. Hall, R. Douglas Wilson, Dagmar Kalousek, Richard Beauchamp
DOI: 10.1002/ajmg.1320220328
11/1985

Medical Genetics
JAMA: The Journal of the American Medical Association
Judith G. Hall
DOI: 10.1001/jama.1985.03360160128032
10/1985

Noonan phenotype associated with neurofibromatosis
American Journal of Medical Genetics
J. E. Allanson, J. G. Hall, M. I. Van Allen, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320210307
07/1985

Approach to multiple congenital anomaly syndromes
Seminars in Perinatology
04/1985

Oculocerebrocutaneous Syndrome
American Journal of Ophthalmology
R.D. Wilson, L. Traverse, J.G. Hall, C.O. Flodmark, J. Rootman
DOI: 10.1016/0002-9394(85)90222-3
02/1985

Tuberous sclerosis: case report and investigation of family members
CMAJ
Wilson, R. D. and Hall, J. G. and McGillivray, B. C.
1985

Vitamin A: A newly recognized human teratogen. Harbinger of things to come?
The Journal of Pediatrics
Judith G. Hall
DOI: 10.1016/s0022-3476(84)80423-0
10/1984

Achondroplasia: Unexpected familial recurrence
American Journal of Medical Genetics
Catherine A. Reiser, Richard M. Pauli, Judith G. Hall
DOI: 10.1002/ajmg.1320190206
10/1984

Vitamin A Teratogenicity
New England Journal of Medicine
DOI: 10.1056/nejm198409203111214
09/1984

Orthopaedic Aspects of the Trismus Pseudocamptodactyly Syndrome
Journal of Pediatric Orthopaedics
P. J. O'Brien, P. T. Gropper, S. J. Tredwell, J. G. Hall
DOI: 10.1097/01241398-198408000-00016
08/1984

The lethal multiple pterygium syndromes
American Journal of Medical Genetics
Judith G. Hall
DOI: 10.1002/ajmg.1320170410
04/1984

Apnea and sudden unexpected death in infants with achondroplasia
The Journal of Pediatrics
Richard M. Pauli, Charles I. Scott, E. Robert Wassman, Enid F. Gilbert, Lewis A. Leavitt, James Ver Hoeve, Judith G. Hall, Michael W. Partington, Kenneth Lyons Jones, Annemarie Sommer, William Feldman, Leonard O. Langer, David L. Rimoin, Jacqueline T. Hecht, Ruth Lebovitz
DOI: 10.1016/s0022-3476(84)81092-6
03/1984

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity
American Journal of Medical Genetics
D. O. Sillence, K. K. Barlow, A. P. Garber, J. G. Hall, D. L. Rimoin
DOI: 10.1002/ajmg.1320170204
02/1984

Association between age of onset and parental inheritance in Huntington chorea
American Journal of Medical Genetics
Judith G. Hall, Lillien Te-Juatco
DOI: 10.1002/ajmg.1320160218
10/1983

Prenatal diagnosis of genetic osteochondrodysplasias
American Journal of Medical Genetics
Thaddeua E. Kelly, Judith G. Hall, William Horton, Charles I. Scott, John M. Opitz
DOI: 10.1002/ajmg.1320160217
10/1983

Cytogenetic findings in over 2,000 amniocenteses
CMAJ
PubMed: 6225506
10/1983

Part I. Amyoplasia: A common, sporadic condition with congenital contractures
American Journal of Medical Genetics
J. G. Hall, S. D. Reed, E. P. Driscoll, John M. Opitz
DOI: 10.1002/ajmg.1320150407
08/1983

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
J. G. Hall, S. D. Reed, B. C. McGillivray, J. Herrmann, M. W. Partington, A. Schinzel, J. Shapiro, D. D. Weaver, John M. Opitz
DOI: 10.1002/ajmg.1320150408
08/1983

Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis
Journal of the Neurological Sciences
Sterling K. Clarren, Judith G. Hall
DOI: 10.1016/0022-510x(83)90112-0
01/1983

Chromosome abnormalities and advanced maternal age
BC Medical Journal
1983

Head growth in achondroplasia: Use of ultrasound studies
American Journal of Medical Genetics
Judith G. Hall, William Horton, Thaddeus Kelly, Charles I. Scott
DOI: 10.1002/ajmg.1320130116
09/1982

Limb pterygium syndromes: A review and report of eleven patients
American Journal of Medical Genetics
Judith G. Hall, Susan D. Reed, K. N. Rosenbaum, J. Gershanik, H. Chen, K. M. Wilson
DOI: 10.1002/ajmg.1320120404
08/1982

Growth Curves for Height for Diastrophic Dysplasia, Spondyloepiphyseal Dysplasia Congenita, and Pseudoachondroplasia
Archives of Pediatrics & Adolescent Medicine
William A. Horton
DOI: 10.1001/archpedi.1982.03970400034010
04/1982

Teratogens associated with congenital contractures in humans and in animals
Teratology
J. G. Hall, S. D. Reed
DOI: 10.1002/tera.1420250207
04/1982

Errors of morphogenesis: Concepts and terms: Recommendations of an International Working Group
The Journal of Pediatrics
J. Spranger and K. Benirschke and J.G. Hall and W. Lenz and R.B. Lowry and J.M. Opitz and L. Pinsky and H.G. Schwarzacher and D.W. Smith
DOI: https://doi.org/10.1016/S0022-3476(82)80261-8
1982

An approach to congenital contractures (arthrogryposis)
Pediatric Annals
PubMed: 7022342
07/1981

Diastrophic dysplasia: the death of a variant.
Radiology
R Lachman, D Sillence, D Rimoin, W Horton, J Hall, C Scott, J Spranger, L Langer
DOI: 10.1148/radiology.140.1.6787663
07/1981

Short-limbed dwarfism: ultrasonographic diagnosis by mensuration of fetal femoral length.
Radiology
R A Filly, M S Golbus, J C Carey, J G Hall
DOI: 10.1148/radiology.138.3.7465842
03/1981

Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome
American Journal of Medical Genetics
Elizabeth J. Breslau, Christine Disteche, Judith G. Hall, Horace Thuline, Pat Cooper, John M. Opitz
DOI: 10.1002/ajmg.1320100211
1981

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

Comments on the Neu-Laxova syndrome and CAD complex
American Journal of Medical Genetics
Charles I. Scott, José M. Louro, K. Michael Laurence, Maria Tolarová, Judith G. Hall, Susan Reed, Cynthia J. R. Curry
DOI: 10.1002/ajmg.1320090211
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
Roger A. Williamson, Michael A. Donlan, Cynthia R. Dolan, Horace C. Thuline, Mary T. Harrison, Judith G. Hall, John M. Opitz
DOI: 10.1002/ajmg.1320090204
1981

X-Linked Cutis LaxaDefective Cross-Link Formation in Collagen Due to Decreased Lysyl Oxidase Activity
New England Journal of Medicine
Peter H. Byers, Robert C. Siegel, Karen A. Holbrook, A. Sampath Narayanan, Paul Bornstein, Judith G. Hall
DOI: 10.1056/nejm198007103030201
07/1980

Lip Pits, Cleft Lip and/or Palate, and Congenital Heart Disease
Archives of Pediatrics & Adolescent Medicine
Richard M. Pauli
DOI: 10.1001/archpedi.1980.02130150047012
03/1980

Rothmund-Thomson Syndrome With Severe Dwarfism
Archives of Pediatrics & Adolescent Medicine
Judith G. Hall
DOI: 10.1001/archpedi.1980.02130140039013
02/1980

Prenatal Diagnosis of Congenital Bullous Ichthyosiform Erythroderma (Epidermolytic Hyperkeratosis) by Fetal Skin Biopsy
New England Journal of Medicine
Mitchell S. Golbus, Richard W. Sagebiel, Roy A. Filly, Thomas D. Gindhart, Judith G. Hall
DOI: 10.1056/nejm198001103020205
01/1980

Maternal and fetal sequelae of anticoagulation during pregnancy
The American Journal of Medicine
Judith G. Hall, Richard M. Pauli, Kathleen M. Wilson
DOI: 10.1016/0002-9343(80)90181-3
01/1980

Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome)
American Journal of Medical Genetics
M. Jennings, J. G. Hall, H. Hoehn, Jürgen Herrmann
DOI: 10.1002/ajmg.1320070404
1980

Risks of anticoagulation during pregnancy
American Heart Journal
Richard M. Pauli and Judith G. Hall and Kathleen M. Wilson
DOI: https://doi.org/10.1016/0002-8703(80)90249-5
1980

Autosomal recessive acrocephalosyndactyly revisited
American Journal of Medical Genetics
Judith G. Hall, Susan D. Reed, Clifford J. Sells, James W. Hanson
DOI: 10.1002/ajmg.1320050413
1980

Genetic counseling for adoptees at risk for specific inherited disorders
American Journal of Medical Genetics
Gilbert S. Omenn, Judith G. Hall, Kenneth D. Hansen
DOI: 10.1002/ajmg.1320050209
1980

Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome
American Journal of Medical Genetics
Robin Ray, Elinor Zorn, Thaddeus Kelly, Judith G. Hall, Annemarie Sommer, Louis B. Holmes
DOI: 10.1002/ajmg.1320070413
1980

Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephalyEndocardia1 Fibroelastosis and Neurologic Dysfunction in Brothers
American Journal of Medical Genetics
Mark T. Jennings, Judith G. Hall, Mary Kukolich
DOI: 10.1002/ajmg.1320050309
1980

Gardner syndrome and periampullary malignancy
American Journal of Medical Genetics
Richard M. Pauli, Mary E. Pauli, Judith G. Hall, John M. Opitz
DOI: 10.1002/ajmg.1320060305
1980

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerations
American Journal of Medical Genetics
Sterling K. Clarren, Ellsworth C. Alvord, Judith G. Hall, John M. Optiz
DOI: 10.1002/ajmg.1320070111
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
J. G. Hall, P. D. Pallister, S. K. Clarren, J. B. Beckwith, F. W. Wiglesworth, F. C. Fraser, S. Cho, P. J. Benke, S. D. Reed, John M. Optiz
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
David A. Luthy, Irvin Emanuel, Holger Hoehn, Judith G. Hall, Ellen K. Powers, John M. Optiz
DOI: 10.1002/ajmg.1320070320
1980

Posterolateral (Bochdalek's) Diaphragmatic Hernia in Sisters
Archives of Pediatrics & Adolescent Medicine
Louis D. Pollack
DOI: 10.1001/archpedi.1979.02130110094019
11/1979

WARFARIN EMBRYOPATHY
The Lancet
RichardM. Pauli, JudithG. Hall
DOI: 10.1016/s0140-6736(79)90017-5
07/1979

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

Inheritance of Tuberous Sclerosis
The Lancet
VirginiaP. Sybert and JudithG. Hall
DOI: 10.1016/s0140-6736(79)91244-3
04/1979

Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) treatment with disodium etidronate
The Journal of Pediatrics
Judith G. Hall, Jane G. Schaller, Nancy G. Worsham, Morris R. Horning, Lynn T. Staheli
DOI: 10.1016/s0022-3476(79)80056-6
04/1979

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes
American Journal of Human Genetics
PubMed: 155399
01/1979

Failure of early prenatal diagnosis in classic achondroplasia
American Journal of Medical Genetics
Judith G. Hall, Mitchell S. Golbus, C. Benjamin Graham, Roberta A. Pagon, David A. Luthy, Roy A. Filly, John M. Optiz
DOI: 10.1002/ajmg.1320030408
1979

The summitt syndrome: Observations on a third case
American Journal of Medical Genetics
Clifford J. Sells, James W. Hanson, Judith G. Hall, Robert L. Summitt
DOI: 10.1002/ajmg.1320030108
1979

More on marker X chromosomes, mental retardation and macro-orchidism
The New England journal of medicine
1979

Possible Maternal Effect on Severity of Neurofibromatosis
The Lancet
Marvin Miller and JudithG. Hall
DOI: 10.1016/s0140-6736(78)91804-4
11/1978

Microphallus, Growth Hormone Deficiency, and Hypoglycemia in Russell-Silver Syndrome
Archives of Pediatrics & Adolescent Medicine
JUDITH G. HALL
DOI: 10.1001/archpedi.1978.02120360105028
11/1978

Children of Incest: When To Suspect and How To Evaluate?
Archives of Pediatrics & Adolescent Medicine
JUDITH G. HALL
DOI: 10.1001/archpedi.1978.02120350113030
10/1978

The phenotypic variability of diastrophic dysplasia
The Journal of Pediatrics
William A. Horton, David L. Rimoin, Ralph S. Lachman, Flemming Skovby, David W. Hollister, Jurgen Spranger, Charles I. Scott, Judith G. Hall
DOI: 10.1016/s0022-3476(78)80896-8
10/1978

Standard growth curves for achondroplasia
The Journal of Pediatrics
William A. Horton, Jerome I. Rotter, David L. Rimoin, Charles I. Scott, Judith G. Hall
DOI: 10.1016/s0022-3476(78)81152-4
09/1978

The frequency and financial burden of genetic disease in a pediatric hospital
American Journal of Medical Genetics
Judith G. Hall, Ellen K. Powers, Robin T. McLlvaine, Virginia H. Ean, John M. Opitz
DOI: 10.1002/ajmg.1320010405
1978

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils
Human Genetics
Peter H. Byers, Karen A. Holbrook, Judith G. Hall, Paul Bornstein, John W. Chandler
DOI: 10.1007/bf00272296
1978

Clinical neurogenetics: A survey of the relationship of medical genetics to clinical neurology
Neurology
T. D. BIRD, J. G. HALL
DOI: 10.1212/wnl.27.11.1057
11/1977

Prenatal diagnosis of chromosomal mosaicism for trisomy D
The Journal of Pediatrics
F.J. Dill, R.B. Lowry, J.G. Hall, H. Hoehn
DOI: 10.1016/s0022-3476(77)80596-9
06/1977

Thrombocytopenia with absent radius.
Archives of Disease in Childhood
J G Hall
DOI: 10.1136/adc.52.1.83
01/1977

Multiple congenital anomalies associated with oral anticoagulants
American Journal of Obstetrics and Gynecology
William L. Shaul, Judith G. Hall
DOI: 10.1016/s0002-9378(16)33249-5
01/1977

A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect
Teratology
Michael Piepkorn, Lawrence E. Karp, Durlin Hickok, Louise Wiegenstein, Judith G. Hall
DOI: 10.1002/tera.1420160315
1977

Acromesomelic dwarfism: Manifestations in childhood
American Journal of Medical Genetics
Leonard O. Langer, Rodney K. Beals, Irene L. Solomon, Penny A. Bard, Leslie A. Bard, Edward M. Rissman, John G. Rogers, John P. Dorst, Judith G. Hall, Robert S. Sparkes, Edmund A. Franken, J. M. Opitz
DOI: 10.1002/ajmg.1320010110
1977

Small structural changes of chromosome 8Two cases with evidence for deletion
Human Genetics
C. Beighle, L. E. Karp, J. W. Hanson, J. G. Hall, H. Hoehn
DOI: 10.1007/bf00295814
1977

The 2p Partial Trisomy Syndrome
Archives of Pediatrics & Adolescent Medicine
JUDITH G. HALL
DOI: 10.1001/archpedi.1977.02120250087020
1977

Familial essential ("benign") chorea.
Journal of Medical Genetics
T D Bird, C B Carlson, J G Hall
DOI: 10.1136/jmg.13.5.357
10/1976

Warfarin and Fetal Abnormality: Reply
The Lancet
Judith G. Hall
DOI: 10.1016/s0140-6736(76)99010-3
05/1976

Chromosome 7 short arm deletion and craniosynostosis a 7p-syndrome
Human Genetics
Elspeth McPherson, Judith G. Hall, Robert Hickman, Bradley T. Gong, Thomas H. Norwood, Holger Hoehn
DOI: 10.1007/bf00295627
1976

ARTERIAL OCCLUSION IN 47,XYY MALE
The Lancet
Mary Kukolich, JudithG. Hall
DOI: 10.1016/s0140-6736(75)90706-0
08/1975

Chondrodysplasia Punctata and Maternal Warfarin Use During Pregnancy
Archives of Pediatrics & Adolescent Medicine
William L. Shaul
DOI: 10.1001/archpedi.1975.02120400060014
03/1975

A New Arthrogryposis Syndrome With Facial and Limb Anomalies
Archives of Pediatrics & Adolescent Medicine
Judith G. Hall
DOI: 10.1001/archpedi.1975.02120380090021
01/1975

Coarctation of the Aorta in Male Cousins With Similar Maternal Environmental Exposure to Insect Repellent and Insecticides
Pediatrics
Hall, Judith G. and McLaughlin, John F. and Stamm, Stanley
1975

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.
Journal of Medical Genetics
J G Hall, H Herrod
DOI: 10.1136/jmg.12.4.397
1975

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult
The American Journal of Medicine
J.M. Friedman, Henry G. Kaplan, Judith G. Hall
DOI: 10.1016/0002-9343(75)90472-6
1975

A pattern of craniofacial and limb defects secondary to aberrant tissue bands
The Journal of Pediatrics
Kenneth L. Jones, David W. Smith, Bryan D. Hall, Judith G. Hall, Allan J. Ebbin, Hossein Massoud, Mitchell S. Golbus
DOI: 10.1016/s0022-3476(74)80559-7
01/1974

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

Oxidative energy deficiency. II. Human achondroplasia
Archives of Biochemistry and Biophysics
B. Mackler, B. Haynes, A.R. Inamdar, L.R. Pedegana, J.G. Hall, M.M. Cohen
DOI: 10.1016/0003-9861(73)90531-6
1973

Thanatophoric Dwarfism–Maybe Genetic but not Polygenic
Pediatrics
Hall, Judith G.
1973

Diastrophic Dwarfism
Medicine
BRYAN A. WALKER and CHARLES I. SCOTT and JUDITH G. HALL and J LAMONT MURDOCH and VICTOR A. McKUSICK
DOI: 10.1097/00005792-197201000-00003
01/1972

Diabetes mellitus and sexual ateliotic dwarfism: a comparative study
Journal of Clinical Investigation
T. J. Merimee, S. E. Fineberg, V. A. McKusick, J. Hall
DOI: 10.1172/jci106325
06/1970

Achondroplasia?a genetic and statistical survey
Annals of Human Genetics
J. L. MURDOCH, B. A. WALKER, J. G. HALL, H. ABBEY, K. K. SMITH, V. A. McKUSICK
DOI: 10.1111/j.1469-1809.1970.tb01648.x
01/1970

Capillary basement membrane structure: a comparative study of diabetics and sexual ateliotic dwarfs
Journal of Clinical Investigation
Thomas J. Merimee, Marvin D. Siperstein, Judith D. Hall, S. Edwin Fineberg
DOI: 10.1172/jci106434
1970

THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)
Medicine
JUDITH G. HALL, JACK LEVIN, JERALD P. KUHN, EDWARD J. OTTENHEIMER, K. A. PETER van BERKUM, VICTOR A. McKUSICK
DOI: 10.1097/00005792-196948060-00001
11/1969

A metabolic and hormonal basis of classifying ateliotic dwarfs
The Lancet
T.J. Merimee and D.L. Rimoin and J.D. Hall and V.A. Mckusick
DOI: 10.1016/s0140-6736(69)91861-3
05/1969

Isolated human growth hormone deficiency. IV. The response of sexual ateliotic dwarfs to exogenous growth hormone
Metabolism
T.J. Merimee, D. Rabinowitz, J. Hall, D.L. Rimoin, V.A. McKusick
DOI: 10.1016/0026-0495(68)90007-3
11/1968

AN UNUSUAL VARIETY OF ENDOCRINE DWARFISM: SUBRESPONSIVENESS TO GROWTH HORMONE IN A SEXUALLY MATURE DWARF
The Lancet
T.J. Merimee, J. Hall, D. Rabinowitz, V.A. Mckusick, D.L. Rimoin
DOI: 10.1016/s0140-6736(68)92623-8
07/1968

Production of Foetal Haemoglobin in Marrow Cultures of Human Adults
Nature
JUDITH GOSLIN HALL, ARNO G. MOTULSKY
DOI: 10.1038/217569a0
02/1968

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
Molecular Genetics & Genomic Medicine
Jesse M. Hunter and Mary Ellen Ahearn and Christopher D. Balak and Winnie S. Liang and Ahmet Kurdoglu and Jason J. Corneveaux and Megan Russell and Matthew J. Huentelman and David W. Craig and John Carpten and Stephen W. Coons and Daphne E. DeMello and Judith G. Hall and Saunder M. Bernes and Lisa Baumbach-Reardon
DOI: 10.1002/mgg3.142

International classification of osteochondrodysplasias
American Journal of Medical Genetics
P. Beighton and A Giedion and R. Gorlin and J. Hall and B. Horton and K. Kozlowski and R. Lachman and L. O. Langer and P. Maroteaux and A Poznanski and D. L. Rimoin and D. Sillence and J. Spranger
DOI: 10.1002/ajmg.1320440220

Molecular nosology of heritable disorders of connective tissue
American Journal of Medical Genetics
P. Beighton and A. De Paepe and J. G. Hall and D. W. Hollister and F. M. Pope and R. E. Pyeritz and B. Steinmann and P. Tsipouras
DOI: 10.1002/ajmg.1320420406

The distal arthrogryposes: Delineation of new entities – review and nosologic discussion
American Journal of Medical Genetics
J. G. Hall and S. D. Reed and G. Greene
DOI: 10.1002/ajmg.1320110208

International nosology of heritable disorders of connective tissue, Berlin, 1986
American Journal of Medical Genetics
P. Beighton and A. de Paepe and D. Danks and G. Finidori and T. Gedde-Dahl and R. Goodman and J. G. Hall and D. W. Hollister and W. Horton and V. A. McKusick and J. M. Opitz and F. M. Pope and R. E. Pyeritz and D. L. Rimoin and D. Sillence and J. W. Spranger and E. Thompson and P. Tsipouras and D. Viljoen and I. Winship and I. Young and James F. Reynolds
DOI: 10.1002/ajmg.1320290316

Dominantly inherited renal adysplasia
American Journal of Medical Genetics
E. McPherson and J. Carey and A. Kramer and J. G. Hall and R. M. Pauli and R. N. Schimke and M. H. Tasin and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320260413

Noonan syndrome: The changing phenotype
American Journal of Medical Genetics
J. E. Allanson and J. G. Hall and H. E. Hughes and M. Preus and R. D. Witt and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320210313

National Neurofibromatosis Foundation International Database
American Journal of Medical Genetics
J. M. Friedman and Patricia Birch and Carol Greene and null null
DOI: 10.1002/ajmg.1320450121

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

Kathy Gregg
Wendy Hall, Affiliate Investigator, BC Children's Hospital
Amy Ho