Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

(2019) Ash Zawerton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations

(2019) Marco Angelozzi et al.   TRENDS IN GENETICS

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice

(2018) B. Tumienė et al.   CLINICAL GENETICS

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

The SWISS-MODEL Repository—new features and functionality

(2016) Stefan Bienert et al.   NUCLEIC ACIDS RESEARCH

Multi-nucleotide de novo Mutations in Humans

(2016) Søren Besenbacher et al.   PLoS Genetics

SoxD Transcription Factors: Multifaceted Players of Neural Development

(2016) Eun Hye Ji et al.   International Journal of Stem Cells

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

(2015) Addie Nesbitt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel genetic causes for cerebral visual impairment

(2015) Daniëlle GM Bosch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

Sox proteins: regulators of cell fate specification and differentiation

(2013) Y. Kamachi et al.   DEVELOPMENT

Deletion 12p12 Involving SOX5 in Two Children With Developmental Delay and Dysmorphic Features

(2013) Ryan W.Y. Lee et al.   PEDIATRIC NEUROLOGY

Revealing the role of phospholipase C 3 in the regulation of VEGF-induced vascular permeability

(2012) L. H. Hoeppner et al.   BLOOD

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability

(2012) Ina Schanze et al.   European Journal of Medical 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

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

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

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Generation of mice harboring aSox5conditional null allele

(2008) Peter Dy et al.   GENESIS

L-Sox5 and Sox6 Drive Expression of the Aggrecan Gene in Cartilage by Securing Binding of Sox9 to a Far-Upstream Enhancer

(2008) Y. Han et al.   MOLECULAR AND CELLULAR BIOLOGY

SOX5 Controls the Sequential Generation of Distinct Corticofugal Neuron Subtypes

(2008) Tina Lai et al.   NEURON

The three SoxC proteins—Sox4, Sox11 and Sox12—exhibit overlapping expression patterns and molecular properties

(2008) Peter Dy et al.   NUCLEIC ACIDS RESEARCH

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

Boys, girls and shuttling of SRY and SOX9

(2008) Helena Sim et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM