Natural history and genotype-phenotype correlations in 72 individuals with SATB2 -associated syndrome

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

(2017) Hemant Bengani et al.   GENETICS IN MEDICINE

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exonSATB2frameshift mutation

(2016) Philip M. Boone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations

(2016) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SATB2-associated syndrome presenting with Rett-like phenotypes

(2016) J.S. Lee et al.   CLINICAL GENETICS

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

(2016) L. Basel-Vanagaite et al.   CLINICAL GENETICS

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

(2016) Esther R Berko et al.   JOURNAL OF MEDICAL GENETICS

Satb2 determines miRNA expression and long-term memory in the adult central nervous system

(2016) Clemens Jaitner et al.   eLife

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

(2015) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IBS: an illustrator for the presentation and visualization of biological sequences: Fig. 1.

(2015) Wenzhong Liu et al.   BIOINFORMATICS

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

Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism

(2013) Agnieszka Tomaszewska et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further delineation of the SATB2 phenotype

(2013) Dennis Döcker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

(2013) J. K. Rainger et al.   HUMAN MOLECULAR GENETICS

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Toriello-Carey syndrome in a patient with ade novobalanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

(2009) DH Tegay et al.   CLINICAL GENETICS

SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons

(2008) Andrea B. Gyorgy et al.   EUROPEAN JOURNAL OF NEUROSCIENCE