Leigh Anne Flore

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype

Jirair K. Bedoyan, Leigh Anne Flore, Aziz A. Alkatib et al. · American Journal of Medical Genetics Part A · 2004 · 92 citations

Karyotype Imaging, Chromatin, Ring Chromosome 13 +11

<i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai et al. · Human Mutation · 2017 · 63 citations · Full text

Genetics, Pathology, Molecular Biology +23

Prenatal Diagnosis of Smith-Magenis Syndrome (del 17p11.2)

Dafydd G. Thomas, Suzanne M. Jacques, Leigh Anne Flore et al. · Fetal Diagnosis and Therapy · 2000 · 24 citations

Down Syndrome, Developmental Anomaly, Genetic Disorder +13

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Shereen G. Ghosh, Marcello Scala, Christian Beetz et al. · European Journal of Human Genetics · 2020 · 18 citations · Full text

Down Syndrome, Neurodegenerative Diseases, Mendelian Disorder +11