Concepedia

Dima El‐Khechen

DE

15

Publications

2.5K

Citations

14

H-Index

2009

Active since

Affiliations

Ambry Genetics (United States)(Current)

Peyton Manning Children’s Hospital at St.Vincent

University of Washington

Louisiana State University Health Sciences Center New Orleans

PerkinElmer (United States)

Dima El‐Khechen is an author at Ambry Genetics (United States) specializing in medicine, genetics, and developmental biology.

Top concepts

Publications per year

2009–2018

15

Publications

15

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

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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

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen et al. · Genetics in Medicine · 2014 · 462 citations · Full text

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 111 citations · Full text

, , +11

Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader et al. · American Journal of Medical Genetics Part A · 2013 · 108 citations · Full text

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