Hannah Meddaugh

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genome sequencing as a first-line diagnostic test for hospitalized infants

Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila et al. · Genetics in Medicine · 2021 · 56 citations · Full text

Medicine, Genetics, Pediatrics +11

Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications

Ashish R. Deshwar, Cheryl Cytrynbaum, Harsha Murthy et al. · Brain · 2022 · 32 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance

Kelsey Casano, Hannah Meddaugh, Regina M. Zambrano et al. · European Journal of Medical Genetics · 2020 · 17 citations

Life Sciences, Genetics, Molecular Genetics +12

Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Amy A. Lemke, Michelle L. Thompson, Emily C. Gimpel et al. · Journal of Personalized Medicine · 2023 · 15 citations · Full text

Medicine, Genetics, Pediatrics +16