Sarah Risen

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Andrés Jiménez-Gómez, Sizhe Niu, Fabiola Andujar-Perez et al. · Journal of Neurodevelopmental Disorders · 2019 · 85 citations · Full text

Life Sciences, Genetics, Neuroscience +17

<scp>Multi‐disciplinary</scp> collaborative consensus guidance statement on the assessment and treatment of p<scp>ostacute</scp> sequelae of <scp>SARS‐CoV</scp>‐2 infection (<scp>PASC</scp>) in children and adolescents

Laura A. Malone, Amanda K. Morrow, Yuxi Chen et al. · PM&R · 2022 · 46 citations · Full text

Veterinary Medicine, Infectious Diseases, Pediatrics +15

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri et al. · EBioMedicine · 2022 · 42 citations · Full text

Medicine, Genetics, Pharmacology +17

Continuing Care For Critically Ill Children Beyond Hospital Discharge: Current State of Follow-up

Cydni N. Williams, Trevor A. Hall, Conall Francoeur et al. · Hospital Pediatrics · 2022 · 40 citations · Full text

Medicine, Child Health, Critical Care Nursing +9