🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Alejandro Iglesias

NewYork–Presbyterian Hospital

ORCID: 0000-0002-6487-436X

Also affiliated with Columbia University Irving Medical Center

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: “Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis”.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Human Genetics(2020)10.1007/s00439-020-02188-6
N/A
0DataRank · unranked
32 citations

Loukas Argyriou, Francisco Martínez‐Azorín, Susanne Morlot, Gökhan Yiğit, Teresa M. Lee +19 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308
N/A
0DataRank · unranked
20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy

Brain(2022)10.1093/brain/awac295
N/A
0DataRank · unranked
19 citations

Guillermo Rodríguez Bey, Bruce Nmezi, Fang Liu, Talia DeFrancesco Oranburg, Ana S.A. Cohen +13 more

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12526
N/A
0DataRank · unranked
17 citations

Gaëlle Friocourt, Naïg Guéguen, Marisa W. Friederich, Gérald Le Gac, Volkan Okur +34 more

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013
N/A
0DataRank · unranked
43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5
N/A
0DataRank · unranked
25 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

Two cases of MT-ND5 -related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder

Multiple Sclerosis Journal(2023)10.1177/13524585231172947
N/A
0DataRank · unranked
3 citations

Amy Yu, Connolly Steigerwald, Kurenai Tanji, Alejandro Iglesias, Michio Hirano +4 more

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy

European Journal of Medical Genetics(2024)10.1016/j.ejmg.2024.104968
N/A
0DataRank · unranked
1 citations

Wenyuan Xu, Aliaa H. Abdelhakim, Anastasiya Matveyenko, Matthias Szabolcs, William C. Copeland +6 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329
N/A
0DataRank · unranked
1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w
N/A
0DataRank · unranked
2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more