D. El-Khechen

发表

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Donna M. Martin, B. Coe, J. Rosenfeld, 2012, The New England journal of medicine.

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

Xiang Li, Aaron Elliott, Xiang Li, 2014, Genetics in Medicine.

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

M. Black, Sha Tang, D. El-Khechen, 2017, Pediatric neurology.

Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practices

M. Towne, D. El-Khechen, Julie Stefka, 2021, Journal of genetic counseling.

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

J. Rosenfeld, B. Torchia, L. Shaffer, 2011, European journal of medical genetics.

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

J. Rosenfeld, M. Shaw, E. Haan, 2013, American journal of human genetics.

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

M. Shy, S. Feely, J. Garbern, 2009, Neurology.

Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

K. Helbig, D. Shinde, D. Grange, 2017, Human mutation.

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2016, Genetics in Medicine.

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

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Investigation of NRXN1 deletions: Clinical and molecular characterization

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2018, Genetics in Medicine.

A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor.

B. Kirkpatrick, D. El-Khechen, 2011, Clinical dysmorphology.

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

Joshua L. Deignan, Lora J. H. Bean, H. Rehm, 2018, Genetics in Medicine.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Bradley P. Coe, Donna M. Martin, J. Rosenfeld, 2012, The New England journal of medicine.