Roya Mostafavi

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Ian D. Krantz, Līvija Medne, Jamila Weatherly et al. · JAMA Pediatrics · 2021 · 173 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh et al. · The American Journal of Human Genetics · 2015 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Markus Zweier, Anaïs Begemann, Kirsty McWalter et al. · European Journal of Human Genetics · 2019 · 73 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

Relevance of Molecular Groups in Children with Newly Diagnosed Atypical Teratoid Rhabdoid Tumor: Results from Prospective St. Jude Multi-institutional Trials

Santhosh A. Upadhyaya, Giles Robinson, Arzu Onar‐Thomas et al. · Clinical Cancer Research · 2021 · 67 citations · Full text

Medicine, Oncology, Pediatrics +6

Identification of novel candidate disease genes from de novo exonic copy number variants

Tomasz Gambin, Bo Yuan, Weimin Bi et al. · Genome Medicine · 2017 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17