James Pitt

Also affiliated with Victorian Clinical Genetics Services, Murdoch Children's Research Institute

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 4 papers. Top paper: “ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder”.

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61936

N/A

0.500DataRank · unranked

27 citations

Shaya S. Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi‘a Sefuiva Reupena +12 more

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet

Molecular Genetics and Metabolism Reports(2020)10.1016/j.ymgmr.2020.100617

N/A

0DataRank · unranked

29 citations

Mary Sowa, Mariella Simon, Maija Steenari, Janette Skaar, Shaya S. Eftekharian +4 more

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.012

N/A

0DataRank · unranked

17 citations

Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha Ranatunga, Marina Ventouratou +30 more

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Journal of Clinical Investigation(2024)10.1172/jci174824

N/A

0DataRank · unranked

28 citations

Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli +34 more