Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

PatientsLikeMe the case for a data-centered patient community and how ALS patients use the community to inform treatment decisions and manage pulmonary health

(2017) J. Frost et al.   Chronic Respiratory Disease

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

(2015) Tudor Groza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Participant-Driven Matchmaking in the Genomic Era

(2015) Katherine F. Lambertson et al.   HUMAN MUTATION

Mitigating False-Positive Associations in Rare Disease Gene Discovery

(2015) Sebastian Akle et al.   HUMAN MUTATION

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

(2015) Eleni A. Chatzimichali et al.   HUMAN MUTATION

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

(2015) Brianne E. Kirkpatrick et al.   HUMAN MUTATION

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

(2015) Orion J. Buske et al.   HUMAN MUTATION

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

De novoANKRD11andKDM1Agene mutations in a male with features of KBG syndrome and Kabuki syndrome

(2014) Sanjin Tunovic et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

(2014) Charlotte W Ockeloen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

(2014) Gregory M. Enns et al.   GENETICS IN MEDICINE

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied and treated

(2014) Matthew Might 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

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

(2014) Katherina Walz et al.   HUMAN GENETICS

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Molecular genetic testing and the future of clinical genomics

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

A Hypomorphic Lsd1 Allele Results in Heart Development Defects in Mice

(2013) Thomas B. Nicholson et al.   PLoS One

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

(2012) Anita Rauch et al.   LANCET

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The impact of parent advocacy groups, the Internet, and social networking on rare diseases: The IDEA League and IDEA League United Kingdom example

(2011) Angela P. Black et al.   EPILEPSIA

Histone demethylase LSD1 is required to induce skeletal muscle differentiation by regulating myogenic factors

(2010) Jinmi Choi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Alternative Splicing of the Histone Demethylase LSD1/KDM1 Contributes to the Modulation of Neurite Morphogenesis in the Mammalian Nervous System

(2010) C. Zibetti et al.   JOURNAL OF NEUROSCIENCE

Histone demethylases in development and disease

(2010) Marianne Terndrup Pedersen et al.   TRENDS IN CELL BIOLOGY

Research 2.0: Social Networking and Direct-To-Consumer (DTC) Genomics

(2009) Sandra Soo-Jin Lee et al.   AMERICAN JOURNAL OF BIOETHICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS