Dima El‐Khechen - Concepedia

Concepedia

Author

Dima El‐Khechen

Ambry Genetics (United States)

Also Known As

D. El-Khechen, Dima El-Khechen, Dima El‐Khechen

19

Publications

2.5K

Citations

14

H-Index

50

Concepts

All Affiliations

Ambry Genetics (United States)Peyton Manning Children’s Hospital at St.Vincent University of Washington Louisiana State University Health Sciences Center New Orleans PerkinElmer (United States)

DE

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	1.1K
2	Public Health	2	2	122
3	Social Sciences	1	1	669
4	Biostatistics	1	1	108
5	Epidemiology	1	1	108

Dima El‐Khechen

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15

Publications

2.5K

Citations

14

H-Index

	Year	Citations
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Nature Genetics Developmental BiologyTwo-hit ModelGeneticsDevelopmental ScienceGlobal Developmental Delay	2010	669
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, New England Journal of Medicine	2012	620
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, Genetics in Medicine	2014	462
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, The American Journal of Human Genetics Developmental BiologyMendelian DisorderBrain DevelopmentGenetic DisorderGenetics	2016	111
Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader, American Journal of Medical Genetics Part A	2013	108
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications Erica D. Smith, Kelly Radtke, Mari Rossi, Human Mutation Exome SequencingGenetic EpidemiologyDiagnosisPathologyDiagnostic Exome Sequencing	2017	108
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders Mari Rossi, Dima El‐Khechen, Mary Helen Black, Pediatric Neurology	2017	103
ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity Hiromi Hirata, Indrajit Nanda, Anne van Riesen, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology	2013	90
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, European Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyExonic Array CghSyndromic AutismGenetic Disorder	2012	66
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Genetics in Medicine	2016	54

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