Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

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

(2014) Yaron Avitzur et al.   GASTROENTEROLOGY

Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

(2014) Niti Sardana Agarwal et al.   JOURNAL OF 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

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

(2013) Amélie E. Bigorgne et al.   JOURNAL OF CLINICAL INVESTIGATION

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

CUSHAW: a CUDA compatible short read aligner to large genomes based on the Burrows–Wheeler transform

(2012) Yongchao Liu et al.   BIOINFORMATICS

Familial intestinal polyatresia syndrome

(2010) Neslihan Güngör et al.   CLINICAL GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Hereditary multiple intestinal atresias: 2 new cases and review of the literature

(2010) Cole Conrad et al.   JOURNAL OF PEDIATRIC SURGERY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH