Stephanie Sacharow

Also affiliated with Boston Children's Museum

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 8 papers. Top paper: “Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis”.

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain(2022)10.1093/brain/awac145

N/A

0DataRank · unranked

36 citations

Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen +48 more

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107626

N/A

0DataRank · unranked

16 citations

Martin Caha, Leslie Smoot, David J. Harris, Amy E. Roberts, Stephanie Sacharow +2 more

The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101099

N/A

0DataRank · unranked

4 citations

Emily Zhu, Seth A. Hollander, Stephanie Sacharow

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108541

N/A

0DataRank · unranked

2 citations

Georgianne L. Arnold, Uta Lichter‐Konecki, Gerard T. Berry, Dorothy K. Grange, Cary O. Harding +8 more

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086

N/A

0DataRank · unranked

2 citations

Kristy Jay, Alden Y. Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +23 more

Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2024)10.1002/ajmg.c.32110

N/A

0DataRank · unranked

0 citations

Suzanne Hollander, Stephanie Sacharow, B. Holmes

Patient voices on PKU care: Insights from focus groups with current and former patients

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101148

N/A

0DataRank · unranked

0 citations

Suzanne Hollander, Stephanie Sacharow, Emily Zhu

Phenylketonuria in adults: we know plenty, but there is much more to learn

American Journal of Clinical Nutrition(2025)10.1016/j.ajcnut.2024.12.024

N/A

0DataRank · unranked

2 citations

Georgianne L. Arnold, Gerard T Berry, Shawn E. Christ, Dorothy K. Grange, Elaina Jurecki +10 more