Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Partial deletion ofANKRD11results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome

(2013) Mohamed Khalifa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A De Novo Deletion at 16q24.3 InvolvingANKRD11in a Japanese Patient With KBG Syndrome

(2013) Satoko Miyatake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

(2013) C. W. Ockeloen et al.   ARCHIVES OF DISEASE IN CHILDHOOD

A Chinese patient with KBG syndrome and a 9q31.2–33.1 microdeletion

(2013) Mingzhi Xu et al.   European Journal of Medical Genetics

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome

(2012) Stephanie Sacharow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neurobehavioral phenotype observed in KBG syndrome caused byANKRD11mutations

(2012) Adriana Lo-Castro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ANKRD11 gene deletion in a 17-year-old male

(2011) Erin L. Youngs et al.   CLINICAL DYSMORPHOLOGY

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

(2011) Mala Isrie et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

KBG syndrome associated with periventricular nodular heterotopia

(2010) Renske Oegema et al.   CLINICAL DYSMORPHOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

(2009) Marjolein H Willemsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of ANKRD11 as a p53 coactivator

(2008) P. M. Neilsen et al.   JOURNAL OF CELL SCIENCE