The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2 , a Gene Encoding a Component of the TTT Complex

(2016) Jing You et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Against all odds: blended phenotypes of three single-gene defects

(2016) Yong Li et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Overcalling secondary findings

(2016) Leslie G. Biesecker   GENETICS IN MEDICINE

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

(2016) David B. Beck et al.   NEUROGENETICS

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Practical considerations in the clinical application of whole-exome sequencing

(2015) V. Shashi et al.   CLINICAL GENETICS

Molecular diagnostic experience of whole-exome sequencing in adult patients

(2015) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+Pump Impairs Cellular Ca2+Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

(2015) Tito Calì et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

WACloss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

(2015) Cori DeSanto et al.   JOURNAL OF MEDICAL GENETICS

Mutations inCOQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

(2015) Wendy K Chung et al.   JOURNAL OF MEDICAL GENETICS

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

(2015) Nadia Akawi et al.   NATURE GENETICS

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

(2015) Nadirah Damseh et al.   NEUROGENETICS

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

(2015) C. Alexander Valencia et al.   Frontiers in Pediatrics

A novel variant inGABRB2associated with intellectual disability and epilepsy

(2014) Siddharth Srivastava et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

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

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS