Judith G. Hall

On her Internet site, Judith G. Hall presents herself:
I am a clinical geneticist primarily interested in congenital anomalies, genetics of short stature, and connective tissue abnormalities, with a particular interest in the natural history and clinical heterogeneity of these disorders. I have worked extensively on arthrogryposis, various types of dwarfism, Turner syndrome, neural tube defects, and syndrome identification. Since nontraditional patterns of inheritance are seen in many congenital anomalies, I am also involved in defining mosacism, genomic imprinting, parent of origin affects, and mechanisms of disease. My work has involved collaborations with lay groups for specific disease entities and involves explaining and counselling about the consequences of the available care options. It also has involved the development of guidelines for the care of common disorders, such as achondroplasia and Turner syndrome.

Judith G. Hall attended the University of Washington, Seattle, where she obtained a master of science degree and qualified in medicine in 1966. While s student she spent a year in the medical. genetics department with professor Victor Almon McKusick (1921-), considered the founder of modern medical genetics, and himself associated with no less than seven eponyms.

Judith G. Hall has a particular interest in the heritable disorders of connective tissue. Having described the autosomal recessive form of pseudoachondroplasia which now bears her name, she was accorded the unique honour of life membership of the organisation "Little People of America" which had provided researchers with the opportunity to examine large numbers of affected persons. When Judith G. Hall in 1972 returned to the University of Washington School of Medicine, she began working with professor David W. Smith (1926-1981), whose name is associated with nine eponyms.

Judith G. Hall was appointed as professor of medicine and paediatrics at the University of Washington in 1980, and the following year to the post of professor of medical genetics at the University of British Columbia, Canada. By 2000 Judith G. Hall was professor Pediatrics/Medical Genetics and Physician-in-Chief, Children's & Women's Health Centre of British Columbia, Vancouver.

"To me, high achievement is not the number of publications but being a successful female in a world of professional men. And by that I mean caring more about peacemaking and nurturing the individual and the environment than success, winning, owning or directing.

• J. G. Hall:
  In vitro fetal hemoglobin synthesis.
  Thesis for master of science degree.
• T.J. Merimee, J. G. Hall, D. Rabinowitz, V.A. McKusick and D.L. Rimoin:
  An unusual variety of endocrine dwarfism: subresponsiveness to growth hormone in a sexually mature dwarf.
  Lancet, London, 1968, 2: l9l-l93.
• T.J. Merimee, J.G. Hall, D.L. Rimoin and V.A. McKusick:
  A metabolic and hormonal basis for classifying ateliotic dwarfs.
  Lancet, London, 1969, l: 963-965.
• W. A. Horton, J. I. Potter, D. L. Rimoin, C.I. Scott, J. G. Hall:
  Standard growth curves for achondroplasia.
  Journal of Pediatrics, St. Louis, 1978, 93: 435-438
• J. G. Hall:
  An approach to congenital contractures (arthrogryposis).
  Pediatric Annals, July 1981, 1025(7): 15-26.
• J. G. Hall, S. D. Reed, C. I. Scott:
  Three distinct types of X-linked arthrogryposis seen in 6 families.
  Clinical Genetics, Copenhagen, February 1982, 21(2): 81-97.
• J. G. Hall, S. D. Reed, G. Green:
  The distal arthrogryposes: delineation of new entities--review and nosologic discussion.
  American Journal of Medical Genetics, New York, February 1982: 185-239.
• J. G. Hall, S. D. Reed, E. P. Driscoll:
  Part I. Amyoplasia: a common, sporadic condition with congenital contractures.
  American Journal of Medical Genetics, New York, August 1983, 15(4): 571-90.
• J. G. Hall, S. D. Reed, B. C. McGillivray:
  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, New York , August 1983, 15(4): 591-9.
• J. G. Hall:
  An approach to research on congenital contractures.
  Birth Defects Original Article Series, New York, 1984; 20(6): 8-30.
• J. G. Hall:
  Genetic aspects of arthrogryposis.
  Clinical Orthopaedics and Related Research, Philadelphia, 1985 April (194): 44-53.
• J. G. Hall, Ursula G. Froster-Iskenius and Judith E. Allanson:
  Handbook of Normal Physical Measurements.
  Oxford University Press, Oxford, 1989.
  Discuss how to collect physical measurements and includes charts and graphs showing the range growth and variation.
• J. G. Hall:
  Arthrogryposes (multiple congenital contractures).
  In Principles and Practice of Medical Genetics 1990; II: 989-1035.
• Roger E. Stevenson, Judith G. Hall and Richard M. Goodman, editors:
  Human Malformation and Related Anomalies.
  Oxford: Oxford University Press, 1993.
  Or: Human Malformations and Associated Anomalies
• Klemp, Patrick, and Judith G. Hall:
  Dominant Distal Arthrogryposis in a Maori Family With Marked Variability of Expression.
  American Journal of Medical Genetics 55 (1995): 414-419.
• J. G. Hall, E. Lopez-Rangel:
  Twins and Twinning.
  In: Emery and Rimoin's Principles and Practice of Medical Genetics: Vol 1 (3rd ed) pp 395-404, eds DL Rimoin, JM Connor, RE Pyeritz. Churchill Livingstone, New York, 1996.
• J. G. Hall:
  Arthrogryposis Multiple Congenital Contractures.
  In: Emery and Rimoin's Principles and Practice of Medical Genetics, Vol 1 (3rd ed) pp 2869-2915, eds DL Rimoin, JM Connor, RE Pyeritz. Churchill Livingstone, New York, 1996
• J. G. Hall:
  The challenges and opportunities of times of change.
  American Journal of Human Genetics, Chicago, 1996, 58, 649-656.
• J. G. Hall:
  Genomic imprinting: Nature and clinical relevance.
  Annual Review of Medicine, Palo Alto, 1997: 48: 35-44.
• J. G. Hall:
  Road map for child and youth health into the 21st century: Report on the 1997 Ross Conference.
• J. G. Hall:
  Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.
  Journal of Pediatric Orthopaedics B, New York, 1997 July 6(3): 159-66.
• L. T. Staheli, J. G. Hall, K. M. Kaffe, D. O. Paholke:
  Arthrogryposis: A Text Atlas.
  Cambridge University Press, Cambridge, UK, 1998
• J. G. Hall, F. Solehdin:
  Folate and its various ramifications.
  Advances in Pediatrics 45, 1-35, 1998.