Kyle Retterer

ORCID: 0000-0001-5252-2001

Also affiliated with Geisinger Health System

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 7 papers. Top paper: “Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease”.

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

New England Journal of Medicine(2020)10.1056/nejmoa2026834

N/A

0DataRank · unranked

1168 citations

Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei +57 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

N/A

0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.11.007

N/A

0DataRank · unranked

37 citations

María J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew T. Oetjens +11 more

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.003

N/A

0DataRank · unranked

16 citations

Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Kati J. Buckingham +28 more

Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease

Seminars in Nephrology(2025)10.1016/j.semnephrol.2025.151651

N/A

0DataRank · unranked

2 citations

Janewit Wongboonsin, Andrew Mallett, Ana Morales, Kyle Retterer, Tooraj Mirshahi +2 more