Leigh Demain

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 6 papers. Top paper: “Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement”.

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0.489DataRank · unranked

25 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

medRxiv(2024)10.1101/2024.08.19.24312079

N/A

0.165DataRank · unranked

2 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +35 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.007

N/A

0DataRank · unranked

7 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +34 more

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

medRxiv(2024)10.1101/2024.10.10.24315152

N/A

0DataRank · unranked

2 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +26 more

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.005

N/A

0DataRank · unranked

7 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +41 more