Rare-disease genetics in the era of next-generation sequencing: discovery to translation

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

Molecular genetic testing and the future of clinical genomics

(2013) Sara Huston Katsanis et al.   NATURE REVIEWS GENETICS

Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment

(2013) Jennifer J. Rilstone et al.   NEW ENGLAND JOURNAL OF MEDICINE

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

(2013) Hugh J McMillan et al.   Orphanet Journal of Rare Diseases

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

(2012) Rebecca L. Hood et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Global Prevalence of Autism and Other Pervasive Developmental Disorders

(2012) Mayada Elsabbagh et al.   Autism Research

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

(2012) Bridget A Fernandez et al.   BMC Medical Genetics

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Gene Therapy for Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency

(2012) Claudia A. Montiel-Equihua et al.   CURRENT GENE THERAPY

Exploring concordance and discordance for return of incidental findings from clinical sequencing

(2012) Robert C. Green et al.   GENETICS IN MEDICINE

Inferring causality and functional significance of human coding DNA variants

(2012) S. R. Sunyaev   HUMAN MOLECULAR GENETICS

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

Whole exome sequencing identified a novel zinc-finger geneZNF141associated with autosomal recessive postaxial polydactyly type A

(2012) Umm-e- Kalsoom et al.   JOURNAL OF MEDICAL GENETICS

Genetic insights in Alzheimer's disease

(2012) Karolien Bettens et al.   LANCET NEUROLOGY

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Targeting the TGFβ signalling pathway in disease

(2012) Rosemary J. Akhurst et al.   NATURE REVIEWS DRUG DISCOVERY

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

MEK Inhibition in BRAF-Mutated Melanoma

(2012)   NEW ENGLAND JOURNAL OF MEDICINE

Familial Diarrhea Syndrome Caused by an ActivatingGUCY2CMutation

(2012) Torunn Fiskerstrand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

(2012) Annet M Bosch et al.   Orphanet Journal of Rare Diseases

A generalizable pre-clinical research approach for orphan disease therapy

(2012) Chandree L Beaulieu et al.   Orphanet Journal of Rare Diseases

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation

(2011) Yohta Shimada et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

Whole-animal imaging, gene function, and the Zebrafish Phenome Project

(2011) Keith C Cheng et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

(2011) Jacek Majewski et al.   HUMAN MUTATION

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation

(2011) Xue Wu et al.   JOURNAL OF CLINICAL INVESTIGATION

Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway

(2011) Faraz Farooq et al.   JOURNAL OF CLINICAL INVESTIGATION

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

(2011) Bertrand Isidor et al.   NATURE GENETICS

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

(2011) Michael A Simpson et al.   NATURE GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

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

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mouse Phenome Database (MPD)

(2011) Terry P. Maddatu et al.   NUCLEIC ACIDS RESEARCH

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

(2011) Felicia B Axelrod et al.   PEDIATRIC RESEARCH

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

(2011) S. F. Kingsmore et al.   Science Translational Medicine

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

(2010) Janel O. Johnson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

(2010) Peter Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Saturation of the Human Phenome

(2010) Mark E. Samuels   CURRENT GENOMICS

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

(2010) David N. Cooper et al.   HUMAN MUTATION

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

The Impact of Single Gene and Chromosomal Disorders on Hospital Admissions of Children and Adolescents: A Population-Based Study

(2010) D.E. Dye et al.   Public Health Genomics

National BioResource Project-Rat and Related Activities

(2009) Tadao SERIKAWA et al.   EXPERIMENTAL ANIMALS

p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR

(2009) Faraz Farooq et al.   HUMAN MOLECULAR GENETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Exon-skipping therapy for Duchenne muscular dystrophy

(2009) Akinori Nakamura et al.   NEUROPATHOLOGY

Transplant Outcomes in Mucopolysaccharidoses

(2009) Vinod K. Prasad et al.   SEMINARS IN HEMATOLOGY

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS