Concepedia

Juliann M. Savatt

JM

24

Publications

1K

Citations

18

H-Index

2017

Active since

Affiliations

Autism & Developmental Medicine Institute(Current)

Broad Institute

Harvard University

Inserm

Geisinger Medical Center

Juliann M. Savatt is an author at Autism & Developmental Medicine Institute specializing in medicine, genetics, and genetic testing.

ORCID

Top concepts

Publications per year

2017–2025

24

Publications

24

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 · 204 citations · Full text

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 · 138 citations · Full text

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

Kezhi Yan, Justine Rousseau, Keren Machol et al. · Science Advances · 2020 · 98 citations · Full text

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 · 49 citations · Full text

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DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés et al. · Genetics in Medicine · 2021 · 48 citations · Full text

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