Raymond T. O’Keefe

Also affiliated with St Mary's Hospital, Manchester University NHS Foundation Trust, Genomics (United Kingdom), St. Mary's Hospital

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 10 papers. Top paper: “Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney”.

Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney

Nature Genetics(2021)10.1038/s41588-021-00835-w

N/A

2.7DataRank · unranked

68 citations

Xiao Jiang, Xiaoguang Xu, Sushant Saluja, Artur Akbarov, Eddie Cano-Gamez +44 more

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

Human Genetics(2021)10.1007/s00439-021-02319-7

N/A

0DataRank · unranked

52 citations

Alessandro Rea, Cristina Fenollar‐Ferrer, Raymond T. O’Keefe, Shoujun Gu, Zunaira Munir +7 more

A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.25.465762

N/A

0DataRank · unranked

6 citations

Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless +16 more

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

medRxiv(2021)10.1101/2021.03.19.21253973

N/A

0DataRank · unranked

5 citations

Algy Taylor, Gillian I. Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman +9 more

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

Science Advances(2022)10.1126/sciadv.abn2265

N/A

0DataRank · unranked

209 citations

Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless +16 more

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.014

N/A

0DataRank · unranked

29 citations

Algy Taylor, Gillian I. Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman +8 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 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

0DataRank · unranked

2 citations

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