Concepedia

J. Amos

JA

11

Publications

1K

Citations

11

H-Index

1988

Active since

Affiliations

University College London(Current)

Boston University

Massachusetts General Hospital

Center for Human Genetics

University of California, Irvine

J. Amos is an author at University College London specializing in genetics, medicine, and molecular genetics.

Top concepts

Publications per year

1988–2016

11

Publications

11

A mutation in CFTR produces different phenotypes depending on chromosomal background

Sandra Kiesewetter, Milan Maçek, Claire Davis et al. · Nature Genetics · 1993 · 440 citations

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Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Lindsay A. Farrer, Grundfast Km, J. Amos et al. · PubMed · 1992 · 188 citations

Immunology: Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene

John E. Mickle, Aubrey Milunsky, J. Amos et al. · Human Reproduction · 1995 · 130 citations

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

Jonathan L. Haines, M. Priscilla Short, D J Kwiatkowski et al. · PubMed · 1991 · 81 citations

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study

Kristin G. Monaghan, W. Edward Highsmith, J. Amos et al. · Genetics in Medicine · 2004 · 34 citations · Full text

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