Juliann M. Savatt

Exome Sequencing–Based Screening for <i>BRCA1/2</i> Expected Pathogenic Variants Among Adult Biobank Participants

Kandamurugu Manickam, Adam H. Buchanan, M. Schwartz et al. · JAMA Network Open · 2018 · 219 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi Yan, Justine Rousseau, Keren Machol et al. · Science Advances · 2020 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés et al. · Genetics in Medicine · 2021 · 52 citations · Full text

Medicine, Neurology, Neuroscience +14

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Dervla M. Connaughton, Rufeng Dai, Danielle Owen et al. · The American Journal of Human Genetics · 2020 · 51 citations · Full text

Medicine, Molecular Medicine, Urology +6