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American Journal of Medical Genetics. Part A|September 10, 2005
Complete trisomy 1q with mosaic Y;1 translocation: a recurrent aneuploidy presenting diagnostic dilemmasAngela Scheuerle, Karen Heller, Frederick ElderAmerican Journal of Medical Genetics. Part A|August 9, 2005
Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, et al.American Journal of Medical Genetics. Part A|December 1, 2022
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature reviewHannah Gabriela Valverde de Morales, Hsiao-Lin V Wang, Kathryn Garber, et al.American Journal of Medical Genetics. Part A|June 4, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypesFilomena Pirozzi, Benson Lee, Nicole Horsley, et al.American Journal of Medical Genetics. Part A|June 5, 2021
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutationsChloe A Stutterd, Alexa Kidd, Chris Florkowski, et al.American Journal of Medical Genetics. Part A|June 5, 2021
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathySarah Debs, Carlos R Ferreira, Catherine Groden, et al.American Journal of Medical Genetics. Part A|June 5, 2021
Risk of sudden cardiac death in EXOSC5-related diseaseDaniel G Calame, Isabella Herman, Jawid M Fatih, et al.American Journal of Medical Genetics. Part A|June 5, 2021
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literatureAkçahan Akalın, Ekim Z Taskiran, Pelin Özlem Şimşek-Kiper, et al.American Journal of Medical Genetics. Part A|June 7, 2022
Pathogenic variants in CASK: Expanding the genotype-phenotype correlationsHolly Dubbs, Xilma Ortiz-Gonzalez, Eric D MarshAmerican Journal of Medical Genetics. Part A|June 9, 2022
B-cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21Angela M Verdoni, Megan L Zilla, Grant Bullock, et al.Pageof 928