Clinical whole exome sequencing in child neurology practice

Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations

(2014) Sophia B. Hufnagel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

(2014) Holly A. Stessman et al.   CELL

Making headway with genetic diagnostics of intellectual disabilities

(2013) M.H. Willemsen et al.   CLINICAL GENETICS

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

(2013) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Points to consider for informed consent for genome/exome sequencing

(2013)   GENETICS IN MEDICINE

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

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

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability

(2012) Leigh Anne Flore et al.   Seminars in Pediatric Neurology

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

(2009) Paul Renbaum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Genetic Evaluation of Intellectual Disabilities

(2008) John B. Moeschler   Seminars in Pediatric Neurology