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

Brian J. Shayota

Primary Children's Hospital

ORCID: 0000-0003-4657-6454

Also affiliated with University of Utah

Biochemistry, Genetics and Molecular BiologyMedicine

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 9 papers. Top paper: “Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism”.

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

JAMA Network Open(2021)10.1001/jamanetworkopen.2021.14155

N/A

0.648DataRank · unranked

74 citations

Jing Xiao, Charul Gijavanekar, Kirk L. Pappan, Kevin E. Glinton, Brian J. Shayota +5 more

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0.557DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders

Human Molecular Genetics(2022)10.1093/hmg/ddac200

N/A

0.373DataRank · unranked

11 citations

Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota +19 more

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1888

N/A

0.345DataRank · unranked

9 citations

Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pınar Bayrak‐Toydemir, Christine E. Miller +22 more

A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease

Frontiers in Immunology(2020)10.3389/fimmu.2020.01929

N/A

0DataRank · unranked

12 citations

Brian J. Shayota, Ankit K. Desai, Fuad Kiblawi, Dorothy Myridakis, John Messina +4 more

Phenylketonuria in adults: we know plenty, but there is much more to learn

American Journal of Clinical Nutrition(2025)10.1016/j.ajcnut.2024.12.024

N/A

0DataRank · unranked

2 citations

Georgianne L. Arnold, Gerard T Berry, Shawn E. Christ, Dorothy K. Grange, Elaina Jurecki +10 more

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.03.001

N/A

0DataRank · unranked

36 citations

Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez‐Ospina, Carlos O. Esquivel +18 more

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.07.013

N/A

0DataRank · unranked

24 citations

Taraka Donti, Jing Xiao, Charul Gijavanekar, Adam D. Kennedy, Leroy Hubert +11 more

Rapid genome sequencing identifies a novel de novoSNAP25variant for neonatal congenital myasthenic syndrome

Molecular Case Studies(2022)10.1101/mcs.a006242

N/A

0DataRank · unranked

15 citations

Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E. Boyden +14 more