David R. Thorburn

Also affiliated with The University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne Health

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: “Quantifying constraint in the human mitochondrial genome”.

Quantifying constraint in the human mitochondrial genome

Nature(2024)10.1038/s41586-024-08048-x

N/A

1.1DataRank · unranked

58 citations

Kaiyue Ma, Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao +12 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015

N/A

0DataRank · unranked

17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more

Quantifying constraint in the human mitochondrial genome

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.16.520778

N/A

0DataRank · unranked

10 citations

Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao, Daniela Puiu +9 more

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Human Molecular Genetics(2023)10.1093/hmg/ddad069

N/A

0DataRank · unranked

28 citations

Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo, Sabine Grønborg, Emma Krzesinski +14 more

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

JIMD Reports(2023)10.1002/jmd2.12360

N/A

0DataRank · unranked

4 citations

Melinda Nolan, David R. Thorburn, Johan L.K. Van Hove, Marisa W. Friederich, Donald R. Love +8 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 more

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Med(2020)10.1016/j.medj.2020.06.004

N/A

0DataRank · unranked

72 citations

Alison G. Compton, Yoshihito Kishita, Daniella H. Hock, AnneMarie E. Welch, Sumudu S. C. Amarasekera +40 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 more