Grace E. VanNoy

Also affiliated with Ambry Genetics (United States)

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.

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

Genome Medicine(2025)10.1186/s13073-025-01454-4

Top 41%

0.470DataRank

Top 41%22 citations

Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay K. Avvaru, Grace E. VanNoy +5 more

Papers

Driven by 22 papers — median percentile 60. Top paper: “Genome Sequencing for Diagnosing Rare Diseases”.

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

seqr : A web‐based analysis and collaboration tool for rare disease genomics

Human Mutation(2022)10.1002/humu.24366

N/A

0.712DataRank · unranked

114 citations

Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia +20 more

Emerging roles and opportunities for rare disease patient advocacy groups

Therapeutic Advances in Rare Disease(2023)10.1177/26330040231164425

N/A

0.617DataRank · unranked

60 citations

Megan O’Boyle, Grace E. VanNoy, Kira A. Dies, Amy M. Patterson

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

Genome Medicine(2025)10.1186/s13073-025-01454-4

Top 41%

0.470DataRank

Top 41%22 citations

Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay K. Avvaru, Grace E. VanNoy +5 more

Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Value in Health(2020)10.1016/j.jval.2020.01.017

N/A

0.416DataRank · unranked

15 citations

Dmitry Dukhovny, Kathryn A. Phillips, Alan H. Beggs, Robert C. Green, Richard B. Parad +27 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

De novo variants in MPP5 cause global developmental delay and behavioral changes

Human Molecular Genetics(2020)10.1093/hmg/ddaa224

N/A

0.360DataRank · unranked

10 citations

Anna R. Duncan, Raehee Park, David A. Koolen, Jiahai Shi, Seo‐Hee Cho +16 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0.330DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100419

N/A

0.165DataRank · unranked

2 citations

Sarah L. Stenton, Vijay S Ganesh, Jialan Ma, Grace E. VanNoy, Lynn Pais +5 more

Advancing Understanding of Inequities in Rare Disease Genomics

Clinical Therapeutics(2023)10.1016/j.clinthera.2023.06.010

N/A

0DataRank · unranked

22 citations

Melanie O’Leary, Grace E. VanNoy, Brian Mangilog, Ingrid A. Holm, Yarden S. Fraiman +4 more

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron(2020)10.1016/j.neuron.2020.10.035

N/A

0DataRank · unranked

59 citations

A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss +32 more

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

medRxiv(2023)10.1101/2023.08.22.23294267

N/A

0DataRank · unranked

1 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 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

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more

Family genetic risk communication and reverse cascade testing in the BabySeq project

Genetics in Medicine(2024)10.1016/j.gim.2024.101350

N/A

0DataRank · unranked

3 citations

Hadley Stevens Smith, Stacey Pereira, Casie A. Genetti, Amy L. McGuire, Alan H. Beggs +38 more

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model

Brain(2024)10.1093/brain/awae371

N/A

0DataRank · unranked

5 citations

Lee B. Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi +36 more

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

iScience(2024)10.1016/j.isci.2024.109984

N/A

0DataRank · unranked

4 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 more

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003

N/A

0DataRank · unranked

46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.002

N/A

0DataRank · unranked

42 citations

Sarah L. Stenton, Seth Berger, Paolo Canigiula, Brandy McNulty, Ivo Violich +18 more

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62940

N/A

0DataRank · unranked

5 citations

Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar, John M. Schreiber +21 more

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease

Kidney International Reports(2020)10.1016/j.ekir.2020.05.008

N/A

0DataRank · unranked

5 citations

Monica H. Wojcik, Casie A. Genetti, Thomas E. Mullen, Pankaj B. Agrawal, Deborah R. Stein +1 more

Grace E. VanNoy

Indexed papers

Top data-sharing exemplar

Papers