Rebecca Ganetzky

Also affiliated with University of Pennsylvania

Biochemistry, Genetics and Molecular Biology

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

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03632-4

Top 100%

0DataRank

Top 100%0 citations

Elizabeth Reynolds, Marissa Weis, Ibrahim George‐Sankoh, Sara Nguyen, K. Stanley +5 more

Papers

Driven by 26 papers — median percentile 0. Top paper: “Perspectives of Rare Disease Experts on Newborn Genome Sequencing”.

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

JAMA Network Open(2023)10.1001/jamanetworkopen.2023.12231

N/A

0.596DataRank · unranked

52 citations

Sophia Adelson, Nidhi Shah, Shardae Williams, Sarah L. Bick, Emilie S. Zoltick +17 more

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.06.007

N/A

0.457DataRank · unranked

20 citations

Nicholas Ah Mew, Hilary J. Vernon, Rebecca Ganetzky, Ryan H. Peretz

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

Genetics in Medicine(2021)10.1016/j.gim.2021.09.014

N/A

0.449DataRank · unranked

19 citations

Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer E. Neil, Oana Caluseriu +21 more

Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.006

N/A

0.385DataRank · unranked

12 citations

Marni J. Falk, Amy Goldstein, Ibrahim George‐Sankoh, Rui Xiao, Laura Adang +2 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0.360DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63817

N/A

0.269DataRank · unranked

5 citations

Eden Yitna Teferedegn, Dong Li, Kayla Muirhead, Holly Dubbs, Jacqueline Leonard +12 more

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.001

N/A

0.241DataRank · unranked

4 citations

Elias Oxman, Hieu D. Hoang, Wu‐Lin Charng, Tanvitha Kotla, Weimin Yuan +49 more

Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review

Orphanet Journal of Rare Diseases(2022)10.1186/s13023-022-02188-x

N/A

0.208DataRank · unranked

3 citations

Nina B. Gold, Diva D. De León, Rebecca Ganetzky, Jessica I. Gold

A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype

Journal of Biological Chemistry(2024)10.1016/j.jbc.2024.108092

N/A

0.208DataRank · unranked

3 citations

Sunita Maharjan, Sitao Yin, Yuka Yamaki, Isao Masuda, Fenglin Li +5 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0.104DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

MMFP-Tableau: Enabling Precision Mitochondrial Medicine through Integration, Visualization, and Analytics of Clinical and Research Health System Electronic Data

medRxiv(2024)10.1101/2024.01.03.24300791

N/A

0.104DataRank · unranked

1 citations

Laura E. MacMullen, Asif Chinwalla, Deanne Taylor, Rebecca Ganetzky, K. Stanley +4 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.05.007

N/A

0DataRank · unranked

2 citations

Woranontee Weraarpachai, Katherine M. Szigety, Robert Kopajtich, James B. Gibson, Johan L.K. Van Hove +13 more

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03632-4

Top 100%

0DataRank

Top 100%0 citations

Elizabeth Reynolds, Marissa Weis, Ibrahim George‐Sankoh, Sara Nguyen, K. Stanley +5 more

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

International Journal of Neonatal Screening(2020)10.3390/ijns6020039

N/A

0DataRank · unranked

8 citations

Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan‐Walters, Ligia Smith +4 more

An Unusual Cause of Hexokinase 1 Deficiency—Case Report

eJHaem(2025)10.1002/jha2.70123

N/A

0DataRank · unranked

0 citations

Kelly Maurer, Tanaya Jadhav, Tejas Jammihal, Zhe Zhang, Helge Hartung +11 more

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.07.013

N/A

0DataRank · unranked

24 citations

Taraka Donti, Jing Xiao, Charul Gijavanekar, Adam D. Kennedy, Leroy Hubert +11 more

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.12.006

N/A

0DataRank · unranked

29 citations

Jorune Balciuniene, Maria Alejandra Diaz‐Miranda, Elizabeth M. McCormick, Erfan Aref-Eshghi, Alison M. Muir +14 more

TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.01.005

N/A

0DataRank · unranked

26 citations

Claudia Soler‐Alfonso, Kathleen M. Loomes, Amit A. Shah, Danielle Monteil, Carmencita D. Padilla +3 more

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Genetics in Medicine(2022)10.1016/j.gim.2022.11.001

N/A

0DataRank · unranked

30 citations

Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhaş, Melis Köse +17 more

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12526

N/A

0DataRank · unranked

17 citations

Gaëlle Friocourt, Naïg Guéguen, Marisa W. Friederich, Gérald Le Gac, Volkan Okur +34 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015

N/A

0DataRank · unranked

17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development

Molecular Syndromology(2023)10.1159/000530197

N/A

0DataRank · unranked

5 citations

Rebecca Ganetzky, Gerald Wertheim, Cara Skraban, Emma Bedoukian, Alisha Wilkens +7 more

MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data

JAMIA Open(2024)10.1093/jamiaopen/ooae134

N/A

0DataRank · unranked

4 citations

Laura E. MacMullen, Asif Chinwalla, Deanne Taylor, Rebecca Ganetzky, K. Stanley +4 more

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 more

Advancing precision care in pregnancy through a treatable fetal findings list

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.011

N/A

0DataRank · unranked

10 citations

Michael Duyzend, Sophia Adelson, Julie Yeo, Mark D. Fleming, Rebecca Ganetzky +12 more

Rebecca Ganetzky

Indexed papers

Top data-sharing exemplar

Papers