Thomas C. Markello

National Human Genome Research Institute

Also affiliated with Office of the Director

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 13 papers. Top paper: “Issue Information”.

Issue Information

Human Mutation(2018)10.1002/humu.23568

N/A

0DataRank · unranked

0 citations

R. Donald Harvey, Tracy Dudding‐Byth, Liliana Catherine Patiño, Isabelle Beau, Adrien Morel +135 more

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

Disease Models & Mechanisms(2020)10.1242/dmm.041913

N/A

0DataRank · unranked

10 citations

Tong Wang, Trevor Moreland, Rajalakshmi Veeranan‐Karmegam, Manxiu Ma, Chelsi Jeter +15 more

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Annals of Neurology(2020)10.1002/ana.25772

N/A

0DataRank · unranked

41 citations

Yaqun Zou, James E. Dunford, Jachinta Rooney, Goutam Chandra, Hui Xiong +29 more

Forkhead box R1-mediated stress response linked to a case of human microcephaly and brain atrophy

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.366740

N/A

0DataRank · unranked

0 citations

Rui Hong, Sheng-Yong Niu, Féodora Bertherat, Lynne A. Wolfe, Christine May Malicdan +7 more

Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

Hypertension(2021)10.1161/hypertensionaha.121.17624

N/A

0DataRank · unranked

28 citations

Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, William A. Gahl +3 more

FOXR1 regulates stress response pathways and is necessary for proper brain development

PLoS Genetics(2021)10.1371/journal.pgen.1009854

N/A

0DataRank · unranked

12 citations

Hannah Waxman, Rui Hong, Gavin D. Lagani, Sheng-Yong Niu, Féodora Bertherat +9 more

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

Neurology Genetics(2021)10.1212/nxg.0000000000000606

N/A

0DataRank · unranked

3 citations

Thomas C. Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William A. Gahl +2 more

A Complete Pedigree-Based Graph Workflow for Rare Candidate Variant Analysis

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.11.24.469912

N/A

0DataRank · unranked

2 citations

Charles Huang, Álex Rodríguez, Andrew Carroll, Pi-Chuan Chang, Jordan M. Eizenga +4 more

Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I

Journal of Translational Genetics and Genomics(2022)10.20517/jtgg.2021.63

N/A

0DataRank · unranked

1 citations

Elizabeth A. Burke, David R. Adams, Colleen A. Evans, Dorothy Bulas, Stuart Weinerman +7 more

A complete pedigree-based graph workflow for rare candidate variant analysis

Genome Research(2022)10.1101/gr.276387.121

N/A

0DataRank · unranked

6 citations

Charles Huang, Álex Rodríguez, Andrew Carroll, Pi-Chuan Chang, Jordan M. Eizenga +4 more

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features

Human Genetics(2024)10.1007/s00439-024-02708-8

N/A

0DataRank · unranked

2 citations

Jason R. McFadden, F. Graeme Frost, Thomas C. Markello, Dorothy K. Grange, Wendy J. Introne +3 more

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101915

N/A

0DataRank · unranked

1 citations

Julian C. Lui, Dana Marafi, Zhi‐Jie Xia, Ruchika Bhatia, Elaine Zhou +21 more

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33047

N/A

0DataRank · unranked

1 citations

Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski +15 more