Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

(2021) Heidi Diel et al.   BMC Ophthalmology

The BAF chromatin remodeling complexes: structure, function, and synthetic lethalities

(2021) Julia Varga et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

(2021) Ashley Vasko et al.   Genes

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

(2020) Dara Tolchin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Growth charts for individuals with Coffin‐Siris syndrome

(2020) Emily A. McCague et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SOX11-related syndrome

(2020) Victor Wakim et al.   CLINICAL DYSMORPHOLOGY

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

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

Lactacystin: first-in-class proteasome inhibitor still excelling and an exemplar for future antibiotic research

(2019) Satoshi Ōmura et al.   JOURNAL OF ANTIBIOTICS

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

(2019) Andrew T. Timberlake et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations

(2019) Marco Angelozzi et al.   TRENDS IN GENETICS

Front Cover, Volume 40, Issue 8

(2019) Laurens Wiel et al.   HUMAN MUTATION

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

(2019) Futoshi Sekiguchi et al.   JOURNAL OF HUMAN GENETICS

SOX4 inhibits oligodendrocyte differentiation of embryonic neural stem cells in vitro by inducing Hes5 expression

(2018) Luca Braccioli et al.   Stem Cell Research

Molecular basis for the genome engagement by Sox proteins

(2017) Linlin Hou et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Observation of Cleft Palate in an Individual with SOX11 Mutation

(2017) Umair Khan et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Coffin-Siris syndrome and cardiac anomaly with a novel SOX 11 mutation

(2017) Nobuhiko Okamoto et al.   CONGENITAL ANOMALIES

PEP-FOLD3: fasterde novostructure prediction for linear peptides in solution and in complex

(2016) Alexis Lamiable et al.   NUCLEIC ACIDS RESEARCH

The SWISS-MODEL Repository—new features and functionality

(2016) Stefan Bienert et al.   NUCLEIC ACIDS RESEARCH

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

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

(2015) Annmarie Hempel et al.   JOURNAL OF MEDICAL GENETICS

Keeping an eye on SOXC proteins

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

Structure-Function Relationships in Human Testis-determining Factor SRY

(2014) Joseph D. Racca et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SOXC proteins amplify canonical WNT signaling to secure nonchondrocytic fates in skeletogenesis

(2014) Pallavi Bhattaram et al.   JOURNAL OF CELL BIOLOGY

Structural Basis for the SOX-Dependent Genomic Redistribution of OCT4 in Stem Cell Differentiation

(2014) Felipe Merino et al.   STRUCTURE

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

The Chromatin Remodeler CHD7 Regulates Adult Neurogenesis via Activation of SoxC Transcription Factors

(2013) Weijun Feng et al.   Cell Stem Cell

Sox proteins: regulators of cell fate specification and differentiation

(2013) Y. Kamachi et al.   DEVELOPMENT

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

The crystal structure of the Sox4 HMG domain–DNA complex suggests a mechanism for positional interdependence in DNA recognition

(2011) Ralf Jauch et al.   BIOCHEMICAL JOURNAL

Sequentially acting Sox transcription factors in neural lineage development

(2011) M. Bergsland et al.   GENES & DEVELOPMENT

Sequential requirement of Sox4 and Sox11 during development of the sympathetic nervous system

(2010) M. R. Potzner et al.   DEVELOPMENT

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors

(2010) Pallavi Bhattaram et al.   Nature Communications

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

(2008) Peter Dy et al.   NUCLEIC ACIDS RESEARCH