Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency

(2015) Tomoki Kawai et al.   ALLERGOLOGY INTERNATIONAL

Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment

(2014) Hans D. Ochs et al.   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

Common variable immunodeficiency and autoimmunity – an inconvenient truth

(2014) Xiao Xiao et al.   AUTOIMMUNITY REVIEWS

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Incidental Variants Are Critical for Genomics

(2013) Leslie G. Biesecker   AMERICAN JOURNAL OF HUMAN GENETICS

Return of Individual Research Results and Incidental Findings: Facing the Challenges of Translational Science

(2013) Susan M. Wolf   Annual Review of Genomics and Human Genetics

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

Secondary variants and human subjects research

(2013) Leslie G. Biesecker   GENETICS IN MEDICINE

Recommendations for returning genomic incidental findings? We need to talk!

(2013) Wylie Burke et al.   GENETICS IN MEDICINE

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

(2013) Darrell L. Dinwiddie et al.   GENOMICS

A Health Professional-Centered Approach to Incidental Findings

(2013) Leslie Biesecker   HUMAN MUTATION

IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database

(2013) Esther van de Vosse et al.   HUMAN MUTATION

Reporting Genomic Sequencing Results to Ordering Clinicians

(2013) Robert C. Green et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

(2013) Darrell L. Dinwiddie et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiencies: A rapidly evolving story

(2013) Nima Parvaneh et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

(2013) Haifa H. Jabara et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias

(2013) Rui Chen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Exome sequencing identifies mutations in the geneTTC7Ain French-Canadian cases with hereditary multiple intestinal atresia

(2013) Mark E Samuels et al.   JOURNAL OF MEDICAL GENETICS

Who's on first in exome and whole genome sequencing? Is it the patient or the incidental findings?

(2013) David S. Rosenblatt   MOLECULAR GENETICS AND METABOLISM

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

(2013) Laura Dotta et al.   Orphanet Journal of Rare Diseases

Patient Autonomy and Incidental Findings in Clinical Genomics

(2013) S. M. Wolf et al.   SCIENCE

Incidental Swimming with Millstones

(2013) S. F. Kingsmore   Science Translational Medicine

Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing

(2013) Megan Allyse et al.   TRENDS IN BIOTECHNOLOGY

The Variable in Common Variable Immunodeficiency: A Disease of Complex Phenotypes

(2013) Stephen Jolles   Journal of Allergy and Clinical Immunology-In Practice

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

(2012) Qing Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

(2012) R. Badolato et al.   BLOOD

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

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

(2012) Gabrielle M Christenhusz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27

(2012) E. Salzer et al.   HAEMATOLOGICA

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

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

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

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

An update on the hyper-IgE syndromes

(2012) Patrick FK Yong et al.   ARTHRITIS RESEARCH & THERAPY

RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

(2011) Andrew R. Cullinane et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

(2011) Stephen F Kingsmore et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

(2011) Joris M. van Montfrans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency

(2011) Stephane T. Temmerman et al.   JOURNAL OF CLINICAL INVESTIGATION

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

(2011) Robert E Handsaker et al.   NATURE GENETICS

Clinical Features That Identify Children With Primary Immunodeficiency Diseases

(2011) A. Subbarayan et al.   PEDIATRICS

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

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

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

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease

(2010) Chintan Parekh et al.   PEDIATRIC BLOOD & CANCER

Granulomatous disease in common variable immunodeficiency

(2009) Ömür Ardeniz et al.   CLINICAL IMMUNOLOGY

Girls homozygous for an IL-2–inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

(2009) Kirsten Huck et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

(2008) Anne W. Higgins et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-Generation DNA Sequencing Methods

(2008) Elaine R. Mardis   Annual Review of Genomics and Human Genetics

Common variable immunodeficiency disorders: division into distinct clinical phenotypes

(2008) H. Chapel et al.   BLOOD

Granulomatous disease: Distinguishing primary antibody disease from sarcoidosis

(2008) D.F. Arnold et al.   CLINICAL IMMUNOLOGY

Maternal T-cell Engraftment Associated With Severe Hemophagocytosis of the Bone Marrow in Untreated X-linked Severe Combined Immunodeficiency

(2008) Christopher C. Dvorak et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY