Irene H. Maumenee

Also affiliated with Columbia University Irving Medical Center

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 8 papers. Top paper: “Variants in NR6A1 cause a novel oculo vertebral renal syndrome”.

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

Marfan syndrome

Nature Reviews Disease Primers(2021)10.1038/s41572-021-00298-7

N/A

0DataRank · unranked

294 citations

Alan C. Braverman, Julie De Backer, Shaine A. Morris, Cathérine Boileau, Irene H. Maumenee +4 more

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations

Biomedicines(2023)10.3390/biomedicines11020385

N/A

0DataRank · unranked

15 citations

Masha Kolesnikova, Sarah R. Levi, Thiago Cabral, Stephen H. Tsang, Irene H. Maumenee +2 more

A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility

Documenta Ophthalmologica(2023)10.1007/s10633-023-09951-w

N/A

0DataRank · unranked

1 citations

Masha Kolesinkova, Bruna Lopes da Costa, Irene H. Maumenee, Stephen H. Tsang, Peter M. J. Quinn +1 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

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

Orphanet Journal of Rare Diseases(2020)10.1186/s13023-020-01600-8

N/A

0DataRank · unranked

14 citations

Avinash V. Dharmadhikari, Sara D. Ragi, José Ronaldo Lima de Carvalho, Christine L. Xu, Amanda Thomas‐Wilson +8 more

Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation

Journal of Clinical Medicine(2025)10.3390/jcm14176110

N/A

0DataRank · unranked

0 citations

Mohamed M. Sylla, Jin Kyun Oh, Vaidehi S. Dedania, Megan Soucy, Aykut Demirkol +4 more