Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Recessive mutations inSLC13A5result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

(2015) Katia Hardies et al.   BRAIN

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

(2015) Lucas M Bronicki et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

(2014) Julien Thevenon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

Identification of Genes for Childhood Heritable Diseases

(2014) Kym M. Boycott et al.   Annual Review of Medicine

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

(2014) Bernt Popp et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

(2014) Alma Kuechler et al.   HUMAN GENETICS

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

Diagnostic Clinical Genome and Exome Sequencing

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

De novo TBR1 mutations in sporadic autism disrupt protein functions

(2014) Pelagia Deriziotis et al.   Nature Communications

Clinical exome sequencing in daily practice: 1,000 patients and beyond

(2014) Wendy A van Zelst-Stams et al.   Genome Medicine

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

(2013) Christopher S. Poultney et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Making headway with genetic diagnostics of intellectual disabilities

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

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

(2013) Vandana Shashi et al.   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

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation

(2013) Yline Capri et al.   HUMAN MUTATION

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

(2013) Shlomit Hellman-Aharony et al.   PEDIATRIC NEUROLOGY

SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

(2013) Catalina Betancur et al.   Molecular Autism

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

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

Next-generation sequencing demands next-generation phenotyping

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

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2011) D. J. Michelson et al.   NEUROLOGY

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

(2010) Krystyna Chrzanowska et al.   Orphanet Journal of Rare Diseases

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

(2009) Alessio Di Fonzo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Why rare diseases are an important medical and social issue

(2008) Arrigo Schieppati et al.   LANCET