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American Journal of Human Genetics|March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disabilityJuliane Hoyer, Arif B Ekici, Sabine Endele, et al.
Breast (Edinburgh, Scotland)|May 22, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefitsDennis Witt, Marc Sturm, Antje Stäbler, et al.
Prenatal Diagnosis|November 20, 2022
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case seriesBobby K Brar, Marisa Gilstrop Thompson, Neeta L Vora, et al.
Human Genetics|September 19, 2003
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classificationHeike Starke, Angela Nietzel, Anja Weise, et al.
American Journal of Medical Genetics. Part A|August 5, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndromeAida Telegrafi, Bryn D Webb, Sarah M Robbins, et al.
American Journal of Human Genetics|May 30, 2020
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental DiseasesUirá Souto Melo, Robert Schöpflin, Rocio Acuna-Hidalgo, et al.
International Journal of Molecular Medicine|May 29, 2008
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literatureMarina Manvelyan, Mariluce Riegel, Monica Santos, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.
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