Judith G. Hall

Research interests

Publications

• Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

  The American Journal of Human Genetics · 2014 · 10.1016/j.ajhg.2014.03.015

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

  European Journal of Medical Genetics · 2014 · 10.1016/j.ejmg.2014.03.008

• Emergency treatment of anaphylactic reactions—Guidelines for healthcare providers

  Resuscitation · 2008 · 10.1016/j.resuscitation.2008.02.001

• Achondroplasia

  The Lancet · 2007 · 10.1016/s0140-6736(07)61090-3

• Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

  The American Journal of Human Genetics · 2007 · 10.1086/510919

• Health Supervision for Children With Achondroplasia

  PEDIATRICS · 2005 · 10.1542/peds.2005-1440

• Twinning

  The Lancet · 2003 · https://doi.org/10.1016/s0140-6736(03)14237-7

• Arthrogryposis Multiplex Congenita

  Journal of Pediatric Orthopaedics B · 1997 · 10.1097/01202412-199707000-00002

• Evidence for multi‐site closure of the neural tube in humans

  American Journal of Medical Genetics · 1993 · 10.1002/ajmg.1320470528

• Genomic imprinting: review and relevance to human diseases.

  PubMed · 1990

• Nonverbal Sex Differences

  Johns Hopkins University Press eBooks · 1990 · https://doi.org/10.56021/9780801824401

• Chromosome maps of man and mouse. IV

  Annals of Human Genetics · 1989 · 10.1111/j.1469-1809.1989.tb01777.x

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

  American Journal of Medical Genetics · 1988 · https://doi.org/10.1002/ajmg.1320290316

• Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

  PubMed · 1988

• Noonan syndrome: The changing phenotype

  American Journal of Medical Genetics · 1985 · 10.1002/ajmg.1320210313

• Apnea and sudden unexpected death in infants with achondroplasia

  The Journal of Pediatrics · 1984 · 10.1016/s0022-3476(84)81092-6

• The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

  American Journal of Medical Genetics · 1982 · 10.1002/ajmg.1320110208

• Errors of morphogenesis: Concepts and terms

  The Journal of Pediatrics · 1982 · 10.1016/s0022-3476(82)80261-8

• Maternal and fetal sequelae of anticoagulation during pregnancy

  The American Journal of Medicine · 1980 · https://doi.org/10.1016/0002-9343(80)90181-3

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

  American Journal of Medical Genetics · 1980 · 10.1002/ajmg.1320070110

• X-Linked Cutis Laxa

  New England Journal of Medicine · 1980 · 10.1056/nejm198007103030201

• Standard growth curves for achondroplasia

  The Journal of Pediatrics · 1978 · 10.1016/s0022-3476(78)81152-4

• THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)

  Medicine · 1969 · 10.1097/00005792-196948060-00001

• THE ORIGIN OF THE CELLS IN THE EFFERENT LYMPH FROM A SINGLE LYMPH NODE

  The Journal of Experimental Medicine · 1965 · 10.1084/jem.121.6.901

• THE OUTPUT OF CELLS IN LYMPH FROM THE POPLITEAL NODE OF SHEEP

  Quarterly Journal of Experimental Physiology and Cognate Medical Sciences · 1962 · 10.1113/expphysiol.1962.sp001620

Current projects

No projects listed.