Associated Papers
Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.
Yi S et al.
Biochemical Genetics, 2026
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
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?
Ilic N et al.
Genes, 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
Genetic analysis of a child with SATB2‑associated syndrome and literature study.
Liu Q et al.
Experimental and Therapeutic Medicine, 2023
Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.
Snijders Blok L et al.
Genes, Brain, and Behavior, 2021
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
Patients with SATB2-associated syndrome exhibiting multiple odontomas.
Kikuiri T et al.
American Journal of Medical Genetics. Part A, 2018
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Zarate YA et al.
Clinical 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
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN et al.
Mayo Clinic Proceedings, 2016
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2015