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

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

(2010) Emilie Lalonde et al.   HUMAN MUTATION

KSHV and the pathogenesis of Kaposi sarcoma: listening to human biology and medicine

(2010) Don Ganem   JOURNAL OF CLINICAL INVESTIGATION

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Classic Kaposi Sarcoma in 3 Unrelated Turkish Children Born to Consanguineous Kindreds

(2010) G. Sahin et al.   PEDIATRICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

AIDS-Related Kaposis Sarcoma: State of the Art and Therapeutic Strategies

(2009) Ferdinando Martellotta et al.   CURRENT HIV RESEARCH

ORAI1 and STIM1 deficiency in human and mice: roles of store-operated Ca2+entry in the immune system and beyond

(2009) Stefan Feske   IMMUNOLOGICAL REVIEWS

Human genetics of infectious diseases: between proof of principle and paradigm

(2009) Alexandre Alcaïs et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

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

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

Cutaneous and lymphadenopathic Kaposi’s sarcoma: a case report and review of literature

(2008) Mahmoud R. Hussein   JOURNAL OF CUTANEOUS PATHOLOGY

Kaposi sarcoma in transplantation

(2008) Céleste Lebbé et al.   Transplantation Reviews