Gene hunting in autoinflammation

Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies

(2013) David Ellinghaus et al.   GASTROENTEROLOGY

PSORS2 Is Due to Mutations in CARD14

(2012) Catherine T. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

(2012) Dana Fuchs-Telem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of identity by descent using next-generation whole genome sequencing data

(2012) Shu-Yi Su et al.   BMC BIOINFORMATICS

Return of results: not that complicated?

(2012) James P. Evans et al.   GENETICS IN MEDICINE

Next-generation sequencing approaches for genetic mapping of complex diseases

(2012) Ferran Casals et al.   JOURNAL OF NEUROIMMUNOLOGY

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

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis

(2011) Alexandros Onoufriadis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

Genome-wide association studies and Crohn's disease

(2011) J. C. Lee et al.   Briefings in Functional Genomics

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

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

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

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

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

(2011) K. Arima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autoinflammatory Disease Reloaded: A Clinical Perspective

(2010) Daniel L. Kastner et al.   CELL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in NALP12 cause hereditary periodic fever syndromes

(2008) I. Jeru et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA