Sarah M. Ruggiero

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 2%percentile

2.3Author 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.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327

Top 9%

2.3DataRank

Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Papers

Driven by 19 papers — median percentile 91. Top paper: “Assessing the landscape of STXBP1-related disorders in 534 individuals”.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327

Top 9%

2.3DataRank

Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.04.011

N/A

0.241DataRank · unranked

4 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +32 more

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Neurology(2022)10.1212/wnl.0000000000200715

N/A

0DataRank · unranked

58 citations

David Crosiers, Ganna Balagura, Claudia Bonardi, Anna Basu, Gaetano Cantalupo +36 more

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.11.002

N/A

0DataRank · unranked

33 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +21 more

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.02.492389

N/A

0DataRank · unranked

1 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +20 more

A disease concept model for STXBP1 -related disorders

medRxiv(2022)10.1101/2022.08.05.22278197

N/A

0DataRank · unranked

1 citations

Sarah M. Ruggiero, Julie Xian, Kim Marie Thalwitzer, Sydni Stewart, Mahgenn Cosico +11 more

The current landscape of epilepsy genetics: where are we, and where are we going?

Current Opinion in Neurology(2023)10.1097/wco.0000000000001141

N/A

0DataRank · unranked

60 citations

Julie Xian, Ingo Helbig, Sarah M. Ruggiero

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Delineating clinical and developmental outcomes in STXBP1-related disorders

Brain(2023)10.1093/brain/awad287

N/A

0DataRank · unranked

42 citations

Kim Marie Thalwitzer, Jillian L. McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch +14 more

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

Communications Biology(2023)10.1038/s42003-023-05298-9

N/A

0DataRank · unranked

38 citations

Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh +14 more

A disease concept model for STXBP1 ‐related disorders

Epilepsia Open(2023)10.1002/epi4.12688

N/A

0DataRank · unranked

30 citations

Sarah M. Ruggiero, Julie Xian, Kim Marie Thalwitzer, Rahma Ali, Sydni Stewart +12 more

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

Neurology(2023)10.1212/wnl.0000000000207550

N/A

0DataRank · unranked

11 citations

Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli +49 more

Delineating clinical and developmental outcomes in STXBP1 -related disorders

medRxiv(2023)10.1101/2023.05.10.23289776

N/A

0DataRank · unranked

1 citations

Kim Marie Thalwitzer, Jillian L. McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch +14 more

Early life seizures and epileptic spasms in STXBP1 -related disorders

medRxiv(2023)10.1101/2023.06.26.23291892

N/A

0DataRank · unranked

1 citations

Julie Xian, Danielle deCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan +8 more

Early life seizures and epileptic spasms in STXBP1‐related disorders

Epilepsia(2024)10.1111/epi.17886

N/A

0DataRank · unranked

18 citations

Julie Xian, Danielle de Campo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan +8 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

Variants in BSN , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

medRxiv(2025)10.1101/2025.02.10.25321755

N/A

0DataRank · unranked

0 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +34 more

Loss of Grin2a Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons: A Possible Mechanism for Transient Seizure Burden in Patients with Null GRIN2A Variants

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.29.474447

N/A

0DataRank · unranked

3 citations

Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh +14 more

Sarah M. Ruggiero

Indexed papers

Top data-sharing exemplar

Papers