Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

(2020) James E. D. Thaventhiran et al.   NATURE

The burden of rare diseases

(2019) Carlos R. Ferreira   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

(2019) Claire Lentaigne et al.   BLOOD

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

(2018) Yoko Ito et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

(2018) Paul Tuijnenburg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

(2018) Jessica Heremans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

(2018) Pradeep Natarajan et al.   Nature Communications

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

(2018) Alba Sanchis-Juan et al.   Genome Medicine

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

(2017) Lisenka E.L.M. Vissers et al.   GENETICS IN MEDICINE

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer

(2017) Anouck Wijgaerts et al.   HAEMATOLOGICA

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

(2017) Irina Pleines et al.   JOURNAL OF CLINICAL INVESTIGATION

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer

(2017) Anouck Wijgaerts et al.   HAEMATOLOGICA

Human histone deacetylase 6 shows strong preference for tubulin dimers over assembled microtubules

(2017) Lubica Skultetyova et al.   Scientific Reports

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

(2016) Slavé Petrovski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare variants inGP1BBare responsible for autosomal dominant macrothrombocytopenia

(2016) Suthesh Sivapalaratnam et al.   BLOOD

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

(2016) S. Stritt et al.   BLOOD

Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

(2016) Biola M. Javierre et al.   CELL

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

(2016) Esther Meyer et al.   NATURE GENETICS

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder

(2016) Amitha L. Ananth et al.   PEDIATRIC NEUROLOGY

Systematic mapping of functional enhancer–promoter connections with CRISPR interference

(2016) Charles P. Fulco et al.   SCIENCE

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

(2016) Ernest Turro et al.   Science Translational Medicine

BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis

(2016) Jonathan D W Evans et al.   Lancet Respiratory 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

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

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

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

(2015) Nadia Akawi et al.   NATURE GENETICS

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

(2015) Leila Noetzli et al.   NATURE GENETICS

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

(2015) Daniele Merico et al.   Nature Communications

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

CTCF: an architectural protein bridging genome topology and function

(2014) Chin-Tong Ong et al.   NATURE REVIEWS GENETICS

ANKRD26-related thrombocytopenia and myeloid malignancies

(2013) P. Noris et al.   BLOOD

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

(2013) Jacqueline A. L. MacArthur et al.   NUCLEIC ACIDS RESEARCH

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

(2013) Belinda Giardine et al.   NUCLEIC ACIDS RESEARCH

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HDAC6 controls the kinetics of platelet activation

(2012) K. Sadoul et al.   BLOOD

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

Loss of Deacetylation Activity of Hdac6 Affects Emotional Behavior in Mice

(2012) Masahide Fukada et al.   PLoS One

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect

(2011) Michela Di Michele et al.   Journal of Proteomics

Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment

(2011) Matthias Ballmaier et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Severe Gastrointestinal Bleeding and Thrombocytopenia in a Child With an Anti-GATA1 Autoantibody

(2010) Liesbeth de Waele et al.   PEDIATRIC RESEARCH

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

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

Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia

(2008) Marloes R. Tijssen et al.   BRITISH JOURNAL OF HAEMATOLOGY