Stefan Nicolau

Also affiliated with The Ohio State University

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 6 papers. Top paper: “A form of muscular dystrophy associated with pathogenic variants in JAG2”.

A form of muscular dystrophy associated with pathogenic variants in JAG2

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.020

N/A

0.561DataRank · unranked

41 citations

Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas‐Franco +53 more

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Frontiers in Neurology(2021)10.3389/fneur.2021.668180

N/A

0.470DataRank · unranked

22 citations

Stefan Nicolau, C. Anwar A. Chahal, Kirstie Ducharme‐Smith, Shujah Rehman, Keerthi Jaliparthy +9 more

CRISPR-Cas9 homology-independent targeted integration of exons 1–19 restores full-length dystrophin in mice

Molecular Therapy — Methods & Clinical Development(2023)10.1016/j.omtm.2023.08.009

N/A

0DataRank · unranked

19 citations

Stefan Nicolau, Tatyana A. Vetter, G. Dufresne, E. Frair, J. Sarff +5 more

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features

medRxiv(2024)10.1101/2024.09.23.24313872

N/A

0DataRank · unranked

3 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +33 more

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101399

N/A

0DataRank · unranked

5 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +32 more

Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype

Neuromuscular Disorders(2025)10.1016/j.nmd.2025.105416

N/A

0DataRank · unranked

0 citations

Sana Yousfi, Stefan Nicolau, Afrooz Rashnonejad, Jingting Zhu, Zarife Sahenk +6 more