J. A. S. Amos

发表论文 28 篇 · 总被引 1155 次 · h-index 14

代表论文

• A mutation in CFTR produces different phenotypes depending on chromosomal background (1993 · Nature Genetics · 被引 443)
• 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. (1992 · PubMed · 被引 188)
• 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 (1995 · Human Reproduction · 被引 132)
• Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. (1991 · PubMed · 被引 81)
• Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping (2016 · Clinical Genetics · 被引 37)
• Congenital bilateral absence of the vas deferens and cystic fibrosis (1993 · World Journal of Urology · 被引 37)