Concepedia

Jennifer L. Silhavy

JL

Statistics

Publications

39

Citations

6.5K

H-Index

33

Active since

2004

Affiliations

University of California San Diego(Current)

Howard Hughes Medical Institute

National Research Centre

Broad Institute

United Arab Emirates University

Jennifer L. Silhavy is an author at University of California San Diego specializing in life sciences, genetics, and genetic disorders.

Publications per year

2004–2024

39

Publications

39

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Jeong Ho Lee, My N. Huynh, Jennifer L. Silhavy et al. · Nature Genetics · 2012 · 696 citations

, , +14

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations

, , +17

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 412 citations · Full text

, , +12

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 402 citations

, , +9

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas et al. · The American Journal of Human Genetics · 2008 · 399 citations · Full text

, , +12

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