Guy Helman

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 9 papers. Top paper: “De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment”.

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081

N/A

1.1DataRank · unranked

41 citations

Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa Walker, Frances A. High +13 more

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

Brain(2021)10.1093/brain/awab313

N/A

0DataRank · unranked

53 citations

Yiying Cai, Bernice Lo, Guy Helman, Henry M. Taylor, Amber J. McCartney +40 more

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

Pediatric Neurology(2021)10.1016/j.pediatrneurol.2021.04.014

N/A

0DataRank · unranked

10 citations

Ayelet Zerem, Akshata Almad, Julia Hacker, Sarah Woidill, Sunetra Sase +15 more

SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.10.001

N/A

0DataRank · unranked

2 citations

Mohamad‐Gabriel Alameh, Sarah Woidill, Julia Hacker, Benjamin Davis, Guy Helman +13 more

Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations

Stem Cell Research(2022)10.1016/j.scr.2022.102905

N/A

0DataRank · unranked

3 citations

Asako Takanohashi, Sarah Woidill, Allen Seylani, Guy Helman, Patrícia Dias +8 more

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109048

N/A

0DataRank · unranked

9 citations

Brittany A. Charsar, Eline M. Hamilton, Jacqueline Erler, Virali Patel, Sarah Woidill +38 more

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100525

N/A

0DataRank · unranked

1 citations

Giulia S. Porcari, Lívia Sertori Finoti, Leonardo Ramos-Rodriguez, Devin M Burris, Justin A. McDonough +15 more

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5

N/A

0DataRank · unranked

18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 more

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

medRxiv(2025)10.1101/2025.07.17.25331211

N/A

0DataRank · unranked

0 citations

Carlos González, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza +34 more