Associated Papers
Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.
Yi S et al.
Biochemical Genetics, 2026
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.
den Hoed J et al.
Hgg Advances, 2026
Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.
Qin Y et al.
Developmental Neuroscience, 2025
Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.
Ukita N et al.
American Journal of Medical Genetics. Part A, 2025
The skeletal abnormalities and their clinical challenges in SATB2-associated syndrome.
Kuo B et al.
Jbmr Plus, 2025
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.
Jeong R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Current insights on the genetics and mechanisms of MSX1-associated cleft palate.
Myo AC et al.
Frontiers in Dental Medicine, 2025
Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.
Collu R et al.
Metabolic Brain Disease, 2024
Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.
Zarate YA et al.
Clinical Genetics, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Genetic analysis of a child with SATB2‑associated syndrome and literature study.
Liu Q et al.
Experimental and Therapeutic Medicine, 2023
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
Kurosaka H et al.
American Journal of Medical Genetics. Part A, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.
Zarate YA et al.
Human Mutation, 2023
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Mouillé M et al.
Orphanet Journal of Rare Diseases, 2022
Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
Zarate YA et al.
Metabolic Brain Disease, 2021
Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
Zarate YA et al.
Frontiers in Genetics, 2021
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Sobering AK et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H et al.
Pediatric Neurology, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome.
Qian Y et al.
Frontiers in Genetics, 2019
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Zarate YA et al.
Clinical Genetics, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Bengani H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
Schwartz E et al.
American Journal of Medical Genetics. Part A, 2017
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2017
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014