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

Pluripotent stem cell-derived hepatocyte-like cells

(2014) R.E. Schwartz et al.   BIOTECHNOLOGY ADVANCES

Harnessing CRISPR-Cas9 immunity for genetic engineering

(2014) Emmanuelle Charpentier et al.   CURRENT OPINION IN MICROBIOLOGY

Guidelines for investigating causality of sequence variants in human disease

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

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

(2014) Martin Kircher et al.   NATURE GENETICS

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

(2014) Waleed Al-Herz et al.   Frontiers in Immunology

The Genetic Theory of Infectious Diseases: A Brief History and Selected Illustrations

(2013) Jean-Laurent Casanova et al.   Annual Review of Genomics and Human Genetics

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and Hyperproliferation

(2013) Alexandre Belot et al.   ARTHRITIS AND RHEUMATISM

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C  

(2013) E. Salzer et al.   BLOOD

Loss-of-function of the protein kinase C   (PKC ) causes a B-cell lymphoproliferative syndrome in humans

(2013) H. S. Kuehn et al.   BLOOD

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

Long Noncoding RNAs: Cellular Address Codes in Development and Disease

(2013) Pedro J. Batista et al.   CELL

Induced pluripotent stem cells in medicine and biology

(2013) K. Takahashi et al.   DEVELOPMENT

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

(2013) Johann Greil et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

(2013) Polina Stepensky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR– B cells

(2013) Bertrand Boisson et al.   JOURNAL OF CLINICAL INVESTIGATION

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

(2013) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease

(2013) Chee-Seng Ku et al.   JOURNAL OF MEDICAL GENETICS

Efficient generation of lung and airway epithelial cells from human pluripotent stem cells

(2013) Sarah X L Huang et al.   NATURE BIOTECHNOLOGY

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Deficiency in Complement Factor B

(2013) Charlotte Slade et al.   NEW ENGLAND JOURNAL OF MEDICINE

Database resources of the National Center for Biotechnology Information

(2013)   NUCLEIC ACIDS RESEARCH

The human gene connectome as a map of short cuts for morbid allele discovery

(2013) Y. Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STAT2 deficiency and susceptibility to viral illness in humans

(2013) S. Hambleton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Understanding the immunological impact of the human mutation explosion

(2013) T.D. Andrews et al.   TRENDS IN IMMUNOLOGY

Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

(2013) Miao-Xin Li et al.   PLoS Genetics

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency

(2012) Fabian Hauck et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

(2012) Mary Ellen Conley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

(2012) Gaetana Lanzi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

(2012) Fabien G. Lafaille et al.   NATURE

RNA-guided genetic silencing systems in bacteria and archaea

(2012) Blake Wiedenheft et al.   NATURE

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

(2012) Stephan J. Sanders et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

De novo mutations in human genetic disease

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

Reuse of public genome-wide gene expression data

(2012) Johan Rung et al.   NATURE REVIEWS GENETICS

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

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

A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia

(2011) M. M. Gorska et al.   BLOOD

Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders

(2011) Rebecca Josowitz et al.   CURRENT OPINION IN CARDIOLOGY

Genetic CD21 deficiency is associated with hypogammaglobulinemia

(2011) Jens Thiel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Cellular Reprogramming: Recent Advances in Modeling Neurological Diseases

(2011) G.-L. Ming et al.   JOURNAL OF NEUROSCIENCE

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the ikaros gene

(2011) Frederick D. Goldman et al.   PEDIATRIC BLOOD & CANCER

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

(2010) Alexandre Alcaïs et al.   Annals of the New York Academy of Sciences

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

(2010) J. E. Niemela et al.   BLOOD

Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

(2010) Rebeca Pérez de Diego et al.   IMMUNITY

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

(2010) Menno C. van Zelm et al.   JOURNAL OF CLINICAL INVESTIGATION

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

CRISPR interference: RNA-directed adaptive immunity in bacteria and archaea

(2010) Luciano A. Marraffini et al.   NATURE REVIEWS GENETICS

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

(2009) J. D. Matute et al.   BLOOD

The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage

(2009) Grant S. Stewart et al.   CELL

CD20 deficiency in humans results in impaired T cell–independent antibody responses

(2009) Taco W. Kuijpers et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

From evolutionary genetics to human immunology: how selection shapes host defence genes

(2009) Luis B. Barreiro et al.   NATURE REVIEWS GENETICS

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

(2009) Ivona Aksentijevich et al.   NEW ENGLAND JOURNAL OF MEDICINE

Immunodeficiency Associated withFCN3Mutation and Ficolin-3 Deficiency

(2009) Lea Munthe-Fog et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Autoinflammatory Disease Due to Homozygous Deletion of theIL1RNLocus

(2009) Sreelatha Reddy et al.   NEW ENGLAND JOURNAL OF MEDICINE

A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining

(2008) Mirjam van der Burg et al.   JOURNAL OF CLINICAL INVESTIGATION

The actin regulator coronin 1A is mutant in a thymic egress–deficient mouse strain and in a patient with severe combined immunodeficiency

(2008) Lawrence R Shiow et al.   NATURE IMMUNOLOGY