Concepedia

Naghmeh Dorrani

ND

41

Publications

3.8K

Citations

31

H-Index

2003

Active since

Affiliations

University of California, Los Angeles(Current)

Baylor College of Medicine

Columbia University

Children's Hospital of Philadelphia

Harvard University

Naghmeh Dorrani is an author at University of California, Los Angeles specializing in medicine, genetics, and neuroscience.

Top concepts

Publications per year

2003–2024

41

Publications

41

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 969 citations · Full text

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Harrison Brand, Claire Redin et al. · Genome biology · 2017 · 229 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

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee, Alden Huang, Lee-kai Wang et al. · Genetics in Medicine · 2019 · 207 citations · Full text

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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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