Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status

(2015) Deborah A. Bruns et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

TheARID1Bphenotype: What we have learned so far

(2014) Gijs W.E. Santen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

(2014) Philippe M. Campeau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Cornelia de Lange syndrome

(2014) M.I. Boyle et al.   CLINICAL GENETICS

Keeping an eye on SOXC proteins

(2014) Lakshmi Pillai-Kastoori et al.   DEVELOPMENTAL DYNAMICS

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

(2014) Nina De Rocker et al.   GENETICS IN MEDICINE

RNF144A, an E3 ubiquitin ligase for DNA-PKcs, promotes apoptosis during DNA damage

(2014) Shiuh-Rong Ho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neurogenesis in the embryonic and adult brain: same regulators, different roles

(2014) Noelia Urbán et al.   Frontiers in Cellular Neuroscience

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis

(2014) Lakshmi Pillai-Kastoori et al.   PLoS Genetics

The BAF Complex Interacts with Pax6 in Adult Neural Progenitors to Establish a Neurogenic Cross-Regulatory Transcriptional Network

(2013) Jovica Ninkovic et al.   Cell Stem Cell

Viperin is an iron-sulfur protein that inhibits genome synthesis of tick-borne encephalitis virus via radical SAM domain activity

(2013) Arunkumar S. Upadhyay et al.   CELLULAR MICROBIOLOGY

Transcription factor Sox11 is essential for both embryonic and adult neurogenesis

(2013) Yong Wang et al.   DEVELOPMENTAL DYNAMICS

sox4 And sox11 Function during Xenopus laevis Eye Development

(2013) Wiebke Cizelsky et al.   PLoS One

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

(2012) Allen N. Lamb et al.   HUMAN MUTATION

SOX11 target genes: implications for neurogenesis and neuropsychiatric illness.

(2011) Li Sha et al.   ACTA NEUROPSYCHIATRICA

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

(2011) Marie Cognet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH

(2008) Adriana Lo-Castro et al.   European Journal of Medical Genetics