Concepedia

Kimberly Splinter

KS

11

Publications

1.3K

Citations

11

H-Index

1983

Active since

Affiliations

Baylor College of Medicine(Current)

Harvard University

University of California, Los Angeles

Columbia University

Texas Children's Hospital

Kimberly Splinter is an author at Baylor College of Medicine specializing in medicine, neuroscience, and genetics.

Top concepts

Publications per year

1983–2018

11

Publications

11

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Kimberly Splinter, David R. Adams, Carlos A. Bacino et al. · New England Journal of Medicine · 2018 · 359 citations · Full text

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text

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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 118 citations · Full text

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IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 108 citations · Full text

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