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

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

(2011) M. Aza-Carmona et al.   HUMAN MOLECULAR GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

(2010) Eva Klopocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

(2010) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

Transcriptional Regulation of an Axonemal Central Apparatus Gene, Sperm-associated Antigen 6, by a SRY-related High Mobility Group Transcription Factor, S-SOX5

(2010) Elizabeth Anne Kiselak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21-12p12.2 by oligonucleotide array CGH

(2009) Hong-Yong Lu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

(2009) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

The SoxD transcription factors – Sox5, Sox6, and Sox13 – are key cell fate modulators

(2009) Véronique Lefebvre   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

(2009) Ryan N Traylor et al.   Molecular Cytogenetics

Generation of mice harboring aSox5conditional null allele

(2008) Peter Dy et al.   GENESIS

Emerging themes and new challenges in defining the role of structural variation in human disease

(2008) Andrew J. Sharp   HUMAN MUTATION

Spermatogenesis-related ring finger gene ZNF230 promoter: identification and functional analysis

(2008) Wenming Xu et al.   MOLECULAR BIOLOGY REPORTS

SOX5 Controls the Sequential Generation of Distinct Corticofugal Neuron Subtypes

(2008) Tina Lai et al.   NEURON

SOX5 postmitotically regulates migration, postmigratory differentiation, and projections of subplate and deep-layer neocortical neurons

(2008) K. Y. Kwan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

L1 recombination-associated deletions generate human genomic variation

(2008) K. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inversion Region for Hypertension and Brachydactyly on Chromosome 12p Features Multiple Splicing and Noncoding RNA

(2007) Sylvia Bähring et al.   HYPERTENSION