Gavin Arno

Also affiliated with Greenwood Genetic Center, University College London

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 19 papers. Top paper: “Rare disease gene association discovery in the 100,000 GenomesProject”.

Rare disease gene association discovery in the 100,000 GenomesProject

Nature(2025)10.1038/s41586-025-08623-w

N/A

0.515DataRank · unranked

18 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

Nature Communications(2025)10.1038/s41467-025-60574-y

N/A

0.356DataRank · unranked

8 citations

Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan, Daniel Sanchez-Mendoza +18 more

Ocular genetics in the genomics age

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31844

N/A

0DataRank · unranked

4 citations

Tayebeh Rezaie, Robert B. Hufnagel, Gavin Arno, Michael A. Walter

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31841

N/A

0DataRank · unranked

1 citations

Michael A. Walter, Gavin Arno, Robert B. Hufnagel

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

American Journal of Ophthalmology(2021)10.1016/j.ajo.2021.03.004

N/A

0DataRank · unranked

28 citations

Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E. Vargas +32 more

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Nature Communications(2022)10.1038/s41467-022-29931-z

N/A

0DataRank · unranked

46 citations

Adam P. Levine, Inês Cebola, Melanie Chan, Aliya S. Amin, Anshul Aich +94 more

Phenotype-aware prioritisation of rare Mendelian disease variants

Trends in Genetics(2022)10.1016/j.tig.2022.07.002

N/A

0DataRank · unranked

33 citations

Anita Szabó, Nikolas Pontikos, Gavin Arno, Peter N. Robinson, Julius O.B. Jacobsen +3 more

Zfp503/Nlz2 is Required for RPE Differentiation and Optic Fissure Closure

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.03.28.486078

N/A

0DataRank · unranked

0 citations

A. Thompson, Ramakrishna P. Alur, David McGaughey, Lijin Dong, Grace Shih +22 more

KCNV2-associated retinopathy: genotype–phenotype correlations –KCNV2study group report 3

British Journal of Ophthalmology(2023)10.1136/bjo-2023-323640

N/A

0DataRank · unranked

5 citations

Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser +31 more

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

medRxiv(2023)10.1101/2023.12.20.23300294

N/A

0DataRank · unranked

3 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.020

N/A

0DataRank · unranked

7 citations

Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Siying Lin +40 more

Functional assessment of IDUA variants of uncertain significance identified by newborn screening

npj Genomic Medicine(2024)10.1038/s41525-024-00457-1

N/A

0DataRank · unranked

4 citations

Francyne Kubaski, Gavin Arno, Whitney Phinney, Tim Wood, Heather Flanagan‐Steet +3 more

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

medRxiv(2024)10.1101/2024.11.09.24316578

N/A

0DataRank · unranked

2 citations

Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Elangovan, Daniel Sanchez-Mendoza +18 more

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

Research Square(2024)10.21203/rs.3.rs-5375105/v1

N/A

0DataRank · unranked

0 citations

Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan +18 more

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy

Genetics in Medicine(2025)10.1016/j.gim.2025.101401

N/A

0DataRank · unranked

4 citations

Maayan Avraham, Sandeep Sarma Asodu, Abigail R. Moye, Riccardo Sangermano, Leah Rizel +19 more

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101513

N/A

0DataRank · unranked

1 citations

Ingrid M. Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Elisabeth F. C. van Rossum +39 more

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Genetics in Medicine(2020)10.1038/s41436-020-01003-x

N/A

0DataRank · unranked

15 citations

Jun Wang, Kaitlyn Xiong, Chinthana Thangavel, Xinye Qian, Rola Ba‐Abbad +11 more

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

medRxiv(2025)10.1101/2025.01.06.24317169

N/A

0DataRank · unranked

15 citations

Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +95 more

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31822

N/A

0DataRank · unranked

28 citations

Malena Daich Varela, Anthony G. Robson, Karen Pierpoint, Rola Ba‐Abbad, Savita Nutan +12 more