Francis Jeshira Reynoso Santos

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Eduardo Calpena, Alexia Hervieu, Teresa Kaserer et al. · The American Journal of Human Genetics · 2019 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt et al. · Brain · 2019 · 53 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

Lot Snijders Blok, Arianna Vino, Joery den Hoed et al. · Genetics in Medicine · 2020 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

Jessica Priestley, Laura Adang, Sarah Drewes Williams et al. · International Journal of Neonatal Screening · 2022 · 29 citations · Full text

Life Sciences, Child Health, Pediatrics +17