Pamela Pojomovsky McDonnell

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot et al. · The American Journal of Human Genetics · 2022 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +16

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Maimuna Sali Paul, Sydney L. Michener, Hongling Pan et al. · The American Journal of Human Genetics · 2024 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

Benedetta Kassabian, Christina Fenger, Marjolaine Willems et al. · Frontiers in Neuroscience · 2023 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Patient headache questionnaires can improve headache diagnosis and treatment in children

Christina L. Szperka, Stephanie Witzman, Svetlana Ostapenko et al. · Headache The Journal of Head and Face Pain · 2023 · 11 citations · Full text

Medicine, Neurology, Pediatrics +15

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

Marcello Scala, Clarrisa A. Bradley, Jennifer Howe et al. · The American Journal of Human Genetics · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11