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References (143)
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J. Hall (2014)
Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changesAmerican Journal of Medical Genetics Part A, 164
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(1995)
Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics.Pediatrics, 95 3
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J. Opitz, A. Czeizel, J. Evans, J. Hall, M. Lubinsky, J. Spranger (1987)
Nosologic Grouping in Birth Defects -
Allanson JE (1986)
74Obstet. Gynecol., 67
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R. Pauli, C. Scott, E. Wassman, E. Gilbert, L. Leavitt, James Hoeve, J. Hall, M. Partington, K. Jones, A. Sommer, W. Feldman, L. Langer, D. Rimoin, J. Hecht, R. Lebovitz (1984)
Apnea and sudden unexpected death in infants with achondroplasia.The Journal of pediatrics, 104 3
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J. Hall (2010)
Importance of Muscle Movement for Normal Craniofacial DevelopmentJournal of Craniofacial Surgery, 21
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Fahy Mj, Hall Jg (1990)
A retrospective study of pregnancy complications among 828 cases of arthrogryposis.Genetic Counseling, 1
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S. Shalev, J. Hall (2004)
Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinicAmerican Journal of Medical Genetics Part A, 128A
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H. Ferguson, M. Deere, R. Evans, J. Rotta, J. Hall, J. Hecht (1997)
Mosaicism in pseudoachondroplasia.American journal of medical genetics, 70 3
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J. Hall, J. Dorst, J. Rotta, V. McKusick (1987)
Gonadal mosaicism in pseudoachondroplasia.American journal of medical genetics, 28 1
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J. Hall (2012)
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancyAmerican Journal of Medical Genetics Part A, 158A
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J. Hall (1988)
The natural history of achondroplasia.Basic life sciences, 48
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Exome Sequencing and the Management of Neurometabolic Disorders.The New England journal of medicine, 374 23
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J. Murdoch, B. Walker, J. Hall, H. Abbey, K. Smith, V. McKusick (1970)
Achondroplasia—a genetic and statistical surveyAnnals of Human Genetics, 33
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J. Allanson, A. Hunter, S. Cassidy, C. Curry, D. Donnai, C. Fraser, R. Gorlin, J. Graham, B. Hall, J. Hall, K. Jones, R. Stevenson, R. Winter (1997)
Photographic documentation of syndrome diagnosis.American journal of medical genetics, 68 4
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(1980)
Brief clinic report: lower limb abnormalities in the thrombocytopenia-absent radius (TAR) syndrome -
J. Hall (1985)
In utero movement and use of limbs are necessary for normal growth: a study of individuals with arthrogryposis.Progress in clinical and biological research, 200
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J. Hall, O. Agranovich, E. Pontén, H. Bosse (2015)
Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17–19, 2014American Journal of Medical Genetics Part A, 167
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C. Reiser, R. Pauli, J. Hall (1984)
Achondroplasia: unexpected familial recurrence.American journal of medical genetics, 19 2
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(1971)
The clinical and genetic characteristics of homocystinuria -
Bhuvan Molparia, Phillip Pham, A. Torkamani (2015)
Symptom-driven idiopathic disease gene identificationGenetics in medicine : official journal of the American College of Medical Genetics, 17
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J. Allanson, B. Mcgillivray, J. Hall, D. Shaw, D. Kalousek (1983)
Cytogenetic findings in over 2000 amniocenteses.Canadian Medical Association journal, 129 8
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(1991)
Study Res -
J. Hall, Pallister Pd, S. Clarren, J. Beckwith, F. Wiglesworth, F. Fraser, S. Cho, P. Benke, S. Reed, J. Optiz (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, 7 1
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D. Witt, B. Keena, J. Hall, J. Allanson (1986)
Growth curves for height in Noonan syndromeClinical Genetics, 30
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D. Greene, S. Richardson, E. Turro (2016)
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare DiseasesAmerican Journal of Human Genetics, 98
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E. Ling, Lourdes Sosuan, Judith Hall (1991)
Congenital Anomalies: An Increasingly Important Cause of Mortality and Workload in a Neonatal intensive Care UnitAmerican Journal of Perinatology, 8
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R. Hennekam, V. Cormier-Daire, J. Hall, K. Méhes, M. Patton, R. Stevenson (2009)
Elements of morphology: Standard terminology for the nose and philtrumAmerican Journal of Medical Genetics Part A, 149A
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J. Hall (2009)
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited.Birth defects research. Part A, Clinical and molecular teratology, 85 8
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J. Hall, Ellen Powers, Robin McLlvaine, Virginia Ean, J. Opitz (1978)
The frequency and financial burden of genetic disease in a pediatric hospital.American journal of medical genetics, 1 4
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R. Pagon, J. Hall, S. Davenport, J. Aase, T. Norwood, H. Hoehn (1979)
Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes.American journal of human genetics, 31 1
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J. Hall (1984)
Vitamin A teratogenicity.The New England journal of medicine, 311 12
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J. Hall, M. Golbus, C. Graham, R. Pagon, D. Luthy, R. Filly (1979)
Failure to early prenatal diagnosis in classic achondroplasia.American journal of medical genetics, 3 4
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J. Hall (2003)
A clinician's pleaNature Genetics, 33
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B. Keena, A. Sadovnick, P. Baird, J. Hall (1986)
Risks to sibs of probands with neural tube defects: data for clinic populations in British Columbia.American journal of medical genetics, 25 3
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J. Hall (2005)
The Challenge of Developing Career Pathways for Senior Academic PediatriciansPediatric Research, 57
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Peter Beighton, A. Paepe, Judith Hall, David Hollister, F. Pope, Reed Pyeritz, Beat Steinmann, Petros Tsipouras (1992)
Molecular nosology of heritable disorders of connective tissue.American journal of medical genetics, 42 4
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(1997)
Road map for child and youth health into the 21st century: report -
A. Alysworth, J. Graham, J. Hall, E. Hoyme, K. Jones, R. Stevenson (2003)
Morphogenesis: clinical natural history and imaging information on patients included in reportsPediatric Radiology, 33
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Christopher Cuniff, Tracy Trotter, Murray Feingold, R. Geggel, Bruno Marino, M. Digilio (1994)
Health Supervision for Children With Down SyndromePediatrics
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P. Steinbok, J. Hall, O. Flodmark (1989)
Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension.Journal of neurosurgery, 71 1
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Judith Hall, S. Reed (1982)
Teratogens associated with congenital contractures in humans and in animals.Teratology, 25 2
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J. Hall (1988)
Comments on "Amyoplasia Congenita-Like Condition and Maternal Malathion Exposure": Is all Amyoplasia Amyoplasia?Teratology, 38 5
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J. Hall, W. Horton, T. Kelly, C. Scott (1982)
Head growth in achondroplasia: use of ultrasound studies.American journal of medical genetics, 13 1
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D. McMillan, T. Perreault, M. Watanabe, G. Chance, D. Askin, J. Hall (1997)
Neonatal personnel in Canada.Paediatrics & child health, 2 3
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S. Clarren, J. Hall (1983)
Neuropathologic findings in the spinal cords of 10 infants with arthrogryposisJournal of the Neurological Sciences, 58
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J. Hall, Susan Reed, Barbara McGillivray, Jürgen Herrmann, M. Partington, A. Schinzel, J. Shapiro, David Weaver, John Opitz (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, 15 4
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R. Rosenfeld, L. Tesch, Luis Rodriguez-Rigau, E. McCauley, K. Albertsson-Wikland, R. Asch, J. Cara, F. Conte, Judith Hall, B. Lippe, Theodore Nagel, E. Neely, David Page, M. Ranke, P. Saenger, John Watkins, Darrell Wilson (1994)
Recommendations for Diagnosis, Treatment, and Management of Individuals with Turner SyndromeEndocrinologist, 4
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W. Horton, J. Rotter, D. Rimoin, C. Scott, J. Hall (1978)
Standard growth curves for achondroplasia.The Journal of pediatrics, 93 3
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D. Lindhout, G. Hageman (1987)
Amyoplasia congenita-like condition and maternal malathion exposure.Teratology, 36 1
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J. Hall, C. Flora, C. Scott, R. Pauli, Kimi Tanaka (2004)
Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findingsAmerican Journal of Medical Genetics Part A, 130A
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J. Hall (2003)
So you think your mother is always looking over your shoulder?--She may be in your shoulder!The Journal of pediatrics, 142 3
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G. Omenn, J. Hall, C. Graham, L. Karp (1977)
The use of radiographic visualization for prenatal diagnosis.Birth defects original article series, 13 3D
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A. Lippman (1984)
Fetal mortality in sibships of cases with neural tube defectsClinical Genetics, 26
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(1989)
CVS-Amniocentesis Clin. Trial Group -
Jill Sells, K. Jaffe, J. Hall (1996)
Amyoplasia, the most common type of arthrogryposis: the potential for good outcome.Pediatrics, 97 2
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W. Horton, J. Hall, C. Scott, R. Pyeritz, D. Rimoin (1982)
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia.American journal of diseases of children, 136 4
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T. Dalton, J. Edwards, E. Evans, M. Lyon, S. Parkinson, J. Peters, A. Searle (1981)
Chromosome maps of man and mouse.Clinical genetics, 20 6
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Aap Endocrinology (1993)
Newborn Screening for Congenital Hypothyroidism: Recommended GuidelinesPediatrics
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J. Hall, Susan Reed, E. Driscoll, John Opitz (1983)
Part I. Amyoplasia: a common, sporadic condition with congenital contractures.American journal of medical genetics, 15 4
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J. Hall (1981)
An approach to congenital contractures (arthrogryposis).Pediatric annals, 10 7
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E. Dillon, K. Bjornson, K. Jaffe, J. Hall, Kit Song (2009)
Ambulatory Activity in Youth With Arthrogryposis: A Cohort StudyJournal of Pediatric Orthopaedics, 29
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J. Hall (1997)
Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.Journal of pediatric orthopedics. Part B, 6 3
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J. Hall, J. Friedman, B. Kenna, J. Popkin, M. Jawanda, W. Arnold (1988)
Clinical, genetic, and epidemiological factors in neural tube defects.American journal of human genetics, 43 6
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Catharine Wang, T. Bickmore, D. Bowen, Tricia Norkunas, M. Campion, H. Cabral, M. Winter, M. Paasche-Orlow (2015)
Acceptability and feasibility of a virtual counselor (VICKY) to collect family health historiesGenetics in Medicine, 17
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J. Hall (2013)
Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposisAmerican Journal of Medical Genetics Part A, 161
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J. Hall (2014)
Pallister–Hall syndrome has gone the way of modern medical geneticsAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166
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N. Sharts‐Hopko (1993)
Folic acid in the prevention of neural tube defects.MCN. The American journal of maternal child nursing, 18 4
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J. Hall (2003)
American Pediatric Society Presidential Address 2002: The Third ThirdPediatric Research, 53
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P. Beighton, A. Paepe, D. Danks, G. Finidori, T. Gedde-Dahl, R. Goodman, J. Hall, D. Hollister, W. Horton, V. McKusick, J. Opitz, F. Pope, R. Pyeritz, Rimoin Dl, D. Sillence, J. Spranger, E. Thompson, P. Tsipouras, D. Viljoen, I. Winship, I. Young, J. Reynolds (1988)
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.American journal of medical genetics, 29 3
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M. Allen, D. Kalousek, Gerold Chernoff, D. Juriloff, M. Harris, B. Mcgillivray, S. Yong, S. Langlois, P. Macleod, D. Chitayat, J. Friedman, R. Wilson, D. McFadden, J. Pantzar, S. Ritchie, J. Hall (1993)
Evidence for multi-site closure of the neural tube in humans.American journal of medical genetics, 47 5
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Sheila PAUL, P. Rao, P. Mullick (1965)
Diastrophic DwarfismClinical Pediatrics, 4
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The Great Adventure of an American Human Geneticist.Annual review of genomics and human genetics, 17
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J. Spranger (1983)
Errors of morphogenesis: Concepts and terms. -
J. Hall (2013)
Trajectory of an academic career: the coming of age of academic pediatricians.JAMA pediatrics, 167 2
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J. Hall (1996)
Arthrogryposis associated with unsuccessful attempts at termination of pregnancy.American journal of medical genetics, 63 1
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R. Pauli, J. Hall (1979)
WARFARIN EMBRYOPATHYThe Lancet, 314
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Judith Hall, John Opitz, J. Reynolds (1986)
Analysis of Pena Shokeir phenotype.American journal of medical genetics, 25 1
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J. Hall (2013)
Uterine structural anomalies and arthrogryposis—death of an urban legendAmerican Journal of Medical Genetics Part A, 161
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M. Seashore, S. Cho, F. Desposito, J. Sherman, R. Wappner, M. Wilson (1994)
Prenatal Genetic Diagnosis for PediatriciansPediatrics
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J. Hall (1992)
Genomic imprinting and its clinical implications.The New England journal of medicine, 326 12
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(1987)
Impact of genetic disease on pediatric health care -
E. Phimister (2015)
Curating the way to better determinants of genetic risk.The New England journal of medicine, 372 23
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M. Freed, D. Moodie, D. Driscoll, J. Bricker (1997)
Health supervision for children with Turner syndrome.Pediatrics, 99 1
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Jesse Hunter, J. Kiefer, Chris Balak, Sonya Jooma, M. Ahearn, J. Hall, Lisa Baumbach-Reardon (2015)
Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identificationAmerican Journal of Medical Genetics Part A, 167
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J. Hall (2014)
Arthrogryposes (Multiple Congenital Contractures) -
D. Sillence, K. Barlow, A. Garber, J. Hall, D. Rimoin (1984)
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity.American journal of medical genetics, 17 2
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A. Searle, J. Edwards, J. Hall (1994)
Mouse homologues of human hereditary disease.Journal of Medical Genetics, 31
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I. Filges, J. Hall (2013)
Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosisPrenatal Diagnosis, 33
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T. Bird, J. Hall (1977)
Clinical neurogeneticsNeurology, 27
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J. Hall (1988)
Kyphosis in achondroplasia: probably preventable.The Journal of pediatrics, 112 1
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J. Hall (2013)
The role of patient advocacy/parent support groups.South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 103 12 Suppl 1
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Susan Reed, J. Hall, Vincent Riccardi, A. Aylsworth, C. Timmons (1985)
Chromosomal abnormalities associated with congenital contractures (arthrogryposis)Clinical Genetics, 27
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(2014)
Neuromuscular Diseases of Infancy, Childhood, Adolescence: A Clinician’s Approach, ed -
J. Fixsen (1999)
Arthrogryposis: a text atlas.Journal of Bone and Joint Surgery-british Volume
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J. Hall (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, 152A
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A. Lemke, J. Harris-Wai (2015)
Stakeholder engagement in policy development: challenges and opportunities for human genomicsGenetics in Medicine, 17
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J. Hall (1988)
Review and hypotheses: somatic mosaicism: observations related to clinical genetics.American journal of human genetics, 43 4
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J. Hall, R. Pauli, K. Wilson (1980)
Maternal and fetal sequelae of anticoagulation during pregnancy.The American journal of medicine, 68 1
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A. Searle, J. Peters, M. Lyon, J. Hall, J. Hall, E. Evans, J. Edwards, V. Buckle (1989)
Chromosome maps of man and mouse. IVAnnals of Human Genetics, 53
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M. Lubinsky, J. Hall (1991)
Genomic imprinting, monozygous twinning, and X inactivationThe Lancet, 337
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John Graham, Cynthia Curry, H. Hoyme, Roger Stevenson, Judith Hall (1992)
Fellowships and career development in dysmorphology and clinical genetics.Pediatric clinics of North America, 39 2
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J. Hall, S. Reed, C. Scott, J. Rogers, K. Jones, A. Camarano (1982)
Three distinct types of X‐linked arthrogryposis seen in 6 familiesClinical Genetics, 21
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J. Hall (2013)
Chapter 161 - Arthrogryposes (Multiple Congenital Contractures) -
R. Lowry, B. Sibbald, Tanya Bedard, J. Hall (2010)
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding.Birth defects research. Part A, Clinical and molecular teratology, 88 12
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(1988)
Congenital anomalies in sibs exposed to valproic acid in utero -
Judith Hall, A. Motulsky (1968)
Production of Foetal Haemoglobin in Marrow Cultures of Human AdultsNature, 217
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Judith Hall (1996)
1995 ASHG presidential address. The challenges and opportunities of times of change.American journal of human genetics, 58 4
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J. Spranger, K. Benirschke, J. Hall, W. Lenz, R. Lowry, J. Opitz, L. Pinsky, H. Schwarzacher, D. Smith (1982)
Errors of morphogenesis: concepts and terms. Recommendations of an international working group.The Journal of pediatrics, 100 1
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D. Luthy, I. Emanuel, H. Hoehn, J. Hall, E. Powers (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, 7 3
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I. Craig, M. Ross, J. Edwards, N. Fraser, J. Hall (1989)
DETECTING MATERNAL CELL CONTAMINATION IN PRENATAL DIAGNOSISThe Lancet, 333
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J. Allanson, J. Hall, H. Hughes, M. Preus, R. Witt, J. Opitz, J. Reynolds (1985)
Noonan syndrome: the changing phenotype.American journal of medical genetics, 21 3
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J. Hall, S. Reed, K. Rosenbaum, J. Gershanik, Harold Chen, K. Wilson (1982)
Limb pterygium syndromes: a review and report of eleven patients.American journal of medical genetics, 12 4
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J. Hall (1984)
Craniofacial development in arthrogryposis (congenital contractures).Birth defects original article series, 20 3
-
J. Hall, J. Kiefer (2016)
Arthrogryposis as a Syndrome: Gene Ontology AnalysisMolecular Syndromology, 7
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J. Hall, J. Hamerton, D. Hoar, R. Korneluk, P. Ray, D. Rosenblatt, S. Wood (1991)
Policy statement concerning DNA banking and molecular genetic diagnosis. Canadian College of Medical Geneticists.Clinical and investigative medicine. Medecine clinique et experimentale, 14 4
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Joel Chick, Steven Munger, P. Simecek, Edward Huttlin, Kwangbom Choi, D. Gatti, N. Raghupathy, K. Svenson, G. Churchill, S. Gygi (2016)
Defining the consequences of genetic variation on a proteome-wide scaleNature, 534
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J. Hall (2010)
New palpebral fissure measurementsAmerican Journal of Medical Genetics Part A, 152A
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(1988)
The value of the study of natural history as related to genetic disorders and syndromes with congenital anomaly syndromes -
S. Clarren, Ellsworth Alvord, Judith Hall, J. Optiz (1980)
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations.American journal of medical genetics, 7 1
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J. Jameson, D. Longo (2015)
Precision medicine--personalized, problematic, and promising.Obstetrical & Gynecological Survey
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(1969)
Two probable cases of homozygosity for the achondroplasia gene -
C. Reid, J. 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 Opitz, J. Reynolds (1986)
Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk.American journal of medical genetics, 24 4
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Adam Nishimura, B. Shirts, M. Dorschner, L. Amendola, Joe Smith, G. Jarvik, P. Tarczy-Hornoch (2015)
Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencingGenetics in Medicine, 17
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S. Shalev, L. Clarke, D. Koehn, S. Langlois, E. Zackai, J. Hall, Donna McGinn (2004)
Long‐term follow‐up of three individuals with Kabuki syndromeAmerican Journal of Medical Genetics Part A, 125A
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R. Pauli, J. Hall, K. Wilson (1980)
Risks of anticoagulation during pregnancy.American heart journal, 100 5
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R. Stevenson, J. Hall (2006)
Human Malformations and Related Anomalies -
L. Biesecker, M. Abbott, J. Allen, C. Clericuzio, P. Feuillan, J. Graham, J. Hall, S. Kang, A. Olney, D. Lefton, Giovani Neri, K. Peters, A. Verloes (1996)
Report from the workshop on Pallister-Hall syndrome and related phenotypes.American journal of medical genetics, 65 1
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Jg Hall (2007)
The importance of the fetal origins of adult disease for geneticistsClinical Genetics, 72
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Mahima Singh (2018)
The gene: An intimate historyJournal of the Practice of Cardiovascular Sciences, 4
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J. Burns, J. Hall, Ellen Powers, J. Callis, H. Hoehn (1979)
No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndromeClinical Genetics, 15
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J. Warkany (1975)
A warfarin embryopathy?American journal of diseases of children, 129 3
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J. Sneddon, J. Densem, N. Wald, C. Frost, R. Stone, M. Gnant (1991)
Prevention of neural tube defects: Results of the Medical Research Council Vitamin StudyThe Lancet, 338
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J. Hall, J. Levin, J. Kuhn, E. Ottenheimer, K. BERKUM, V. McKusick (1969)
THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)Medicine, 48
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E. Klopocki, H. Schulze, G. Strauss, C. Ott, JudithG. Hall, Fabienne Trotier, S. Fleischhauer, L. Greenhalgh, R. Newbury-Ecob, L. Neumann, R. Habenicht, R. König, E. Seemanová, A. Mégarbané, H. Ropers, R. Ullmann, D. Horn, S. Mundlos (2007)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.American journal of human genetics, 80 2
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J. Hall (1996)
Twinning: mechanisms and genetic implications.Current opinion in genetics & development, 6 3
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J. Hall, S. Reed, G. Greene (1982)
The distal arthrogryposes: delineation of new entities--review and nosologic discussion.American journal of medical genetics, 11 2
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J. Hall (1985)
The study of heterogeneity and natural history--the importance of this type of research with chondrodystrophies as an example.Progress in clinical and biological research, 177
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J. Hall (2016)
The early history of Pallister-Hall syndrome-Buried treasure of a sort.Gene, 589 2
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Jia-Chi Wang, T. Sahoo, S. Schonberg, Kimberly Kopita, Leslie Ross, Kyla Patek, C. Strom (2014)
Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive casesGenetics in Medicine, 17
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N. Giesbertz, A. Bredenoord, J. Delden (2014)
Consent procedures in pediatric biobanksEuropean Journal of Human Genetics, 23
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I. Walters (1990)
Twins and twinning.Australian dental journal, 35 6
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J. Allanson, J. Hall (1986)
Obstetric and Gynecologic Problems in Women With ChondrodystrophiesObstetrics & Gynecology, 67
- Publisher
- Annual Reviews
- Copyright
- Copyright 2017 by Annual Reviews. All rights reserved
- ISSN
- 1527-8204
- eISSN
- 1545-293X
- DOI
- 10.1146/annurev-genom-091416-035213
- pmid
- 28301737
- Publisher site
- See Article on Publisher Site
Abstract
Clinical genetics is the application of advances in genetics and medicine to real human families. It involves diagnosis, care, and counseling concerning options available to affected individuals and their family members. Advances in medicine and genetics have led to dramatic changes in the scope and responsibilities of clinical genetics. This reflection on the last 50 years of clinical genetics comes from personal experience, with an emphasis on the important contributions that clinical geneticists have made to the understanding of diseasedisorder processes and mechanisms. The genetics clinic is a research laboratory where major advances in knowledge can and have been made.
Journal
Annual Review of Genomics and Human Genetics – Annual Reviews
Published: Aug 31, 2017