Concepedia

J. Edward Spence

JE

20

Publications

2.2K

Citations

17

H-Index

1986

Active since

Affiliations

Carolinas Medical Center(Current)

Baylor College of Medicine

Baylor Genetics

Howard Hughes Medical Institute

Children's Hospital of Michigan

J. Edward Spence is an author at Carolinas Medical Center specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

1986–2012

20

Publications

20

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 620 citations · Full text

Uniparental disomy as a mechanism for human genetic disease.

J. Edward Spence, R G Perciaccante, Gillian Greig et al. · PubMed · 1988 · 490 citations

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German et al. · Journal of Medical Genetics · 2009 · 265 citations · Full text

A molecular genetic approach to the identification of isochromosomes of chromosome 21

LisaG. Shaffer, ColleenK. Jackson-Cook, JoanneM. Meyer et al. · Human Genetics · 1991 · 129 citations

, , +14

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

Charlotte A. Brown, Robert W. Lanning, Kimberly Q. McKinney et al. · American Journal of Medical Genetics · 2001 · 116 citations

Rows per page

1–5 of 20