A specific mutation inTBL1XR1causes Pierpont syndrome

De novo deletion ofTBL1XR1in a child with non-specific developmental delay supports its implication in intellectual disability

(2014) Anne-Claude Tabet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new syndrome of intellectual disability with dysmorphism due toTBL1XR1deletion

(2014) Linda Pons et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel TBL1XR1, EPHA7 and SLFN12 mutations in a Sezary syndrome patient discovered by whole exome sequencing

(2014) Emma Andersson et al.   EXPERIMENTAL DERMATOLOGY

TBL1XR1 promotes lymphangiogenesis and lymphatic metastasis in esophageal squamous cell carcinoma

(2014) Liping Liu et al.   GUT

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

(2014) Hirotomo Saitsu et al.   JOURNAL OF HUMAN GENETICS

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

(2014) Joe C H Sim et al.   Orphanet Journal of Rare Diseases

Expression of 11β-Hydroxysteroid Dehydrogenase Type 1 in the Human Hypothalamus

(2013) P. H. Bisschop et al.   JOURNAL OF NEUROENDOCRINOLOGY

Recurrent Mutations of MYD88 and TBL1XR1 in Primary Central Nervous System Lymphomas

(2012) A. Gonzalez-Aguilar et al.   CLINICAL CANCER RESEARCH

Choroid plexus papilloma and Pierpont syndrome

(2012) Sudhakar Vadivelu et al.   Journal of Neurosurgery-Pediatrics

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

(2011) Alison Millson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pierpont syndrome: A collaborative study

(2011) Emma M.M. Burkitt Wright et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Primary Central Nervous System Lymphomas: A Validation Study of Array-Based Comparative Genomic Hybridization in Formalin-Fixed Paraffin-Embedded Tumor Specimens

(2011) E. Braggio et al.   CLINICAL CANCER RESEARCH

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Structural basis for the assembly of the SMRT/NCoR core transcriptional repression machinery

(2011) Jasmeen Oberoi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Identification of Novel Gene Amplifications in Breast Cancer and Coexistence of Gene Amplification with an Activating Mutation of PIK3CA

(2009) M. Kadota et al.   CANCER RESEARCH

The complex genomic profile ofETV6-RUNX1positive acute lymphoblastic leukemia highlights a recurrent deletion ofTBL1XR1

(2008) Helen Parker et al.   GENES CHROMOSOMES & CANCER

TBL1–TBLR1 and β-catenin recruit each other to Wnt target-gene promoter for transcription activation and oncogenesis

(2008) Jiong Li et al.   NATURE CELL BIOLOGY