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Juliann M. Savatt

Observed names: Juliann M Savatt, Juliann Savatt, Savatt, Juliann, Savatt, Juliann M, Savatt, Juliann M.
ORCID: 0000-0001-6444-1962
Observed ORCID: 0000-0001-6444-1962
OpenAlex ID: A5039843757
Genetic Testing in Neurodevelopmental Disorders
2021 · Juliann M. Savatt, Scott M. Myers · Frontiers in Pediatrics · 220
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Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
2018 · Kandamurugu Manickam, Adam H. Buchanan, et al. · JAMA Network Open · 208
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Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications
2021 · Katrine M Johannesen, Yuanyuan Liu, et al. · Brain · 144
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
2020 · Kezhi Yan, Justine Rousseau, et al. · Science Advances · 107
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DLG4-related synaptopathy: a new rare brain disorder
2021 · Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, et al. · Genetics in Medicine · 60
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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
2020 · Dervla M. Connaughton, Rufeng Dai, et al. · The American Journal of Human Genetics · 51
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TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
2019 · Laura V. Vandervore, Rachel Schot, et al. · The American Journal of Human Genetics · 47
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ClinGen's GenomeConnect registry enables patient‐centered data sharing
2018 · Juliann M. Savatt, Danielle R. Azzariti, et al. · Human Mutation · 47
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Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic
2020 · Miranda L.G. Hallquist, Miranda L.G. Hallquist, et al. · Genetics in Medicine · 38
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Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics‐Based Communities
2017 · Heather Mae Rocha, Juliann M. Savatt, et al. · Journal of Genetic Counseling · 38
Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population
2022 · Juliann M. Savatt, Hermela Shimelis, et al. · Genetics in Medicine · 33
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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties
2019 · Karen E. Wain, Danielle R. Azzariti, et al. · Genetics in Medicine · 31
Genomic Screening at a Single Health System
2025 · Juliann M. Savatt, Melissa A. Kelly, et al. · JAMA Network Open · 30
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Application of a framework to guide genetic testing communication across clinical indications
2021 · Miranda L. G. Hallquist, Eric P. Tricou, et al. · Genome Medicine · 29
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022 · Johannesen, Katrine M, Liu, Yuanyuan, et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 23
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
2022 · Erin Rooney Riggs, Taylor I. Bingaman, et al. · Genetics in Medicine · 23
Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis
2023 · Juliann M. Savatt, Alicia Johns, et al. · JAMA Network Open · 21
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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
2022 · Maria Asif, Emrah Kaygusuz, et al. · Human Genetics and Genomics Advances · 21
Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents
2020 · Juliann M. Savatt, Jennifer K. Wagner, et al. · BMC Pediatrics · 20
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A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System
2022 · Laney K. Jones, Natasha T. Strande, et al. · Frontiers in Genetics · 19
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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
2022 · Marco Angelozzi, Anirudha Karvande, et al. · Journal of Medical Genetics · 18
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The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
2018 · Karen E. Wain, Emily Palen, et al. · Human Mutation · 18
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
2024 · Remzi Karayol, Maria Carla Borroto, et al. · The American Journal of Human Genetics · 16
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Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms
2024 · Matt W. Wright, Courtney L. Thaxton, et al. · Annual Review of Biomedical Data Science · 16
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
2021 · Juliann M. Savatt, Danielle R. Azzariti, et al. · Genetics in Medicine · 15
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Works count: 78
Citation count: 1,381
H-index: 19
I10-index: 28
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