Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

Allogeneic Stem Cell Transplant Offers Cure for Intractable Childhood Enteropathy

(2014) Austen J.J. Worth et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease

(2014) Yaron Avitzur et al.   GASTROENTEROLOGY

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

(2013) Holm H Uhlig   GUT

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

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

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

(2012) Alexandre Fabre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

(2012) R. A. Marsh et al.   BLOOD

The Age of Gene Discovery in Very Early Onset Inflammatory Bowel Disease

(2012) Aleixo M. Muise et al.   GASTROENTEROLOGY

Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

(2012) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity

(2012) Federica Barzaghi et al.   Frontiers in Immunology

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

(2010) Jane Louise Hartley et al.   GASTROENTEROLOGY

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Epidemiology of pediatric inflammatory bowel disease: A systematic review of international trends

(2010) Eric I. Benchimol et al.   INFLAMMATORY BOWEL DISEASES

Pediatric modification of the Montreal classification for inflammatory bowel disease

(2010) Arie Levine et al.   INFLAMMATORY BOWEL DISEASES

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

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

Identification of EpCAM as the Gene for Congenital Tufting Enteropathy

(2008) Mamata Sivagnanam et al.   GASTROENTEROLOGY