Kati J. Buckingham

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 13 papers. Top paper: “Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis”.

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.014

N/A

0DataRank · unranked

34 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.06.071555

N/A

0DataRank · unranked

1 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Response to Hall et al.

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.006

N/A

0DataRank · unranked

0 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Carolina Digital Repository (University of North Carolina at Chapel Hill)(2020)10.17615/x8dg-7b55

N/A

0DataRank · unranked

0 citations

Alan Fryer, Koenraad Devriendt, Richard H. Scott, Jules G. Leroy, Ingrid P.C. Krapels +27 more

Club cell secretory protein and lung function in children with cystic fibrosis

Journal of Cystic Fibrosis(2022)10.1016/j.jcf.2022.03.007

N/A

0DataRank · unranked

21 citations

Mary J. Emond, Amber Spangenberg, Debra A. Stern, Monica M. Vasquez, Elizabeth Blue +10 more

Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Genetics in Medicine(2022)10.1016/j.gim.2022.11.002

N/A

0DataRank · unranked

12 citations

Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz +49 more

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

0DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients

American Journal of Respiratory and Critical Care Medicine(2023)10.1164/rccm.202209-1653oc

N/A

0DataRank · unranked

38 citations

Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth Blue +25 more

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100213

N/A

0DataRank · unranked

18 citations

Matthew C. Childers, Colby T. Marvin, Anthony J. Marcello, Hernán Gonorazky, Lili‐Naz Hazrati +13 more

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

medRxiv(2023)10.1101/2023.03.07.23286862

N/A

0DataRank · unranked

0 citations

Matthew C. Childers, Colby T. Marvin, Anthony J. Marcello, Hernán Gonorazky, Lili‐Naz Hazrati +13 more

CFAP47 is Implicated in X-Linked Polycystic Kidney Disease

Kidney International Reports(2024)10.1016/j.ekir.2024.09.013

N/A

0DataRank · unranked

4 citations

Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki +63 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

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.

UNC Libraries(2025)10.17615/f92f-hz53

N/A

0DataRank · unranked

0 citations

Joseph M. Collaco, Kurt N. Hetrick, Elizabeth Blue, Ronald L. Gibson, William W Gordon +25 more