J. Amos - Concepedia

Author

J. Amos

University College London

Also Known As

J A Amos, J A S Amos, J Amos, J. A. S. Amos, J. AMOS, J. Amos, J.A. Amos, J.S. Amos, Joanna Amos

Publications

1.1K

Citations

H-Index

Concepts

All Affiliations

University College London Boston University Massachusetts General Hospital Center for Human Genetics University of California, Irvine

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	552
2	Molecular Genetics	4	4	518
3	Public Health	3	3	87
4	Biostatistics	1	1	34
5	Genetic Medicine	1	1	34

J. Amos

Publications

Citations

H-Index

Page 1

	Year	Citations
A mutation in CFTR produces different phenotypes depending on chromosomal background Sandra Kiesewetter, Milan Maçek, Claire Davis, Nature Genetics Genetic DisorderGeneticsChromosomal BackgroundGenetic MechanismMolecular Genetics	1993	440
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, PubMed	1992	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 John E. Mickle, Aubrey Milunsky, J. Amos, Human Reproduction	1995	130
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Jonathan L. Haines, M. Priscilla Short, D J Kwiatkowski, PubMed	1991	81
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, Genetics in Medicine Mendelian DisorderGenetic DisorderMedicineGeneticsClinical Genetics	2004	34
Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset<sup>a</sup> Jonathan L. Haines, J. Amos, N. Torben Bech‐Hansen, Annals of the New York Academy of Sciences Genetic DisorderMedicineGeneticsLinkage AnalysesLinkage Analysis	1991	34
Autosomal recessive mutations in <i><scp>THOC6</scp></i> cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping J. Amos, Linda Huang, Julien Thévenon, Clinical Genetics	2016	33
Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. Frederick R. Bieber, Eric P. Hoffman, J. Amos PubMed	1989	32
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. Mary C. Phelan, Cynthia C. Morton, Roger E. Stevenson, PubMed	1988	28
A Comparative Study on Genetic Heterogeneity in Tuberous Sclerosis: Evidence for One Gene on 9q34 and a Second Gene on 11q22–23<sup>a</sup> L. A. J. JANSSEN, Sue Povey, L. A. Sandkuyl, Annals of the New York Academy of Sciences Genetic DisorderGeneticsPathologyTuberous SclerosisMolecular Genetics	1991	25

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