🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Sally Ann Lynch

Children's Health Ireland at Crumlin

ORCID: 0000-0003-3540-1333
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 5%percentile
0.572Author 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 →

Top data-sharing exemplar

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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z
Top 34%
0.572DataRank
Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Papers

Driven by 13 papers — median percentile 66. Top paper: “BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations”.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z
Top 34%
0.572DataRank
Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002
N/A
0.568DataRank · unranked
43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Human Mutation(2022)10.1002/humu.24332
N/A
0DataRank · unranked
16 citations

Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian +19 more

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in Medicine(2022)10.1016/j.gim.2022.09.007
N/A
0DataRank · unranked
11 citations

Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt +39 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247
N/A
0DataRank · unranked
41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403
N/A
0DataRank · unranked
27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrum

Clinical Genetics(2023)10.1111/cge.14353
N/A
0DataRank · unranked
6 citations

Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Faivre +38 more

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

Nature Genetics(2024)10.1038/s41588-023-01642-1
N/A
0DataRank · unranked
14 citations

Daria Julkowska, Sarah Bowdin, Azure Hermes, Christopher R. McMaster, Elissa Prichep +20 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

UNC Libraries(2024)10.17615/2254-fj45
N/A
0DataRank · unranked
0 citations

Rolph Pfundt, Birgit Elisabeth Kristiansen, Mary J. Green, Sally Ann Lynch, Amanda Openshaw +67 more

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

Brain(2025)10.1093/brain/awaf035
N/A
0DataRank · unranked
9 citations

Sharayu Jangam, Martin MC Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano +24 more

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003
N/A
0DataRank · unranked
48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

European Journal of Human Genetics(2025)10.1038/s41431-025-01916-8
N/A
0DataRank · unranked
2 citations

Xiaonan Zhao, Nichole Owen, Tom Evans, Muriel Holder‐Espinasse, Nayana Lahiri +28 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

medRxiv(2021)10.1101/2021.09.06.21262776
N/A
0DataRank · unranked
8 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +64 more