Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus

(2014) F.-Y. Li et al.   BLOOD

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage–hair hypoplasia

(2013) Leslie E. Rogler et al.   HUMAN MOLECULAR GENETICS

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

(2013) Marjan M. Weiss et al.   HUMAN MUTATION

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

(2013) Isaac J. Nijman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation

(2013) Guangwu Guo et al.   NATURE GENETICS

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

(2013) Carrie L Lucas et al.   NATURE IMMUNOLOGY

A Pilot Study Using Next-Generation Sequencing in Advanced Cancers: Feasibility and Challenges

(2013) Glen J. Weiss et al.   PLoS One

Phosphoinositide 3-Kinase   Gene Mutation Predisposes to Respiratory Infection and Airway Damage

(2013) I. Angulo et al.   SCIENCE

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

(2013) A. Bolze et al.   SCIENCE

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

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies

(2012) Janet Chou et al.   Current Opinion in Allergy and Clinical Immunology

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

(2012) Abdullah Alangari 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

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

(2011) Akiko Kitamura et al.   JOURNAL OF CLINICAL INVESTIGATION

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

(2011) Feng-Yen Li et al.   NATURE

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

(2011) Magdalena Harakalova et al.   Nature Protocols

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

(2011) Slaheddine Marrakchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Array-Based Sequence Capture and Next-Generation Sequencing for the Identification of Primary Immunodeficiencies

(2011) S. Ghosh et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Molecular- and Flow Cytometry-based Diagnosis of Primary Immunodeficiency Disorders

(2010) Joao B. Oliveira et al.   CURRENT ALLERGY AND ASTHMA REPORTS

Next-Generation Sequencing Techniques for Eukaryotic Microorganisms: Sequencing-Based Solutions to Biological Problems

(2010) Minou Nowrousian   EUKARYOTIC CELL

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

(2010) Hong-Ying Wang et al.   HUMAN MUTATION

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mutation analysis in primary immunodeficiency diseases: case studies

(2009) Amy P Hsu et al.   Current Opinion in Allergy and Clinical Immunology

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

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

(2009) Prateek Kumar et al.   Nature Protocols

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

(2009) Capucine Picard et al.   NEW ENGLAND JOURNAL OF MEDICINE

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

(2008) Chantal Lagresle-Peyrou et al.   NATURE GENETICS

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

(2008) Ulrich Pannicke et al.   NATURE GENETICS