Sabine Grønborg

Also affiliated with Rigshospitalet

MedicineBiochemistry, 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 8 papers. Top paper: “Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications”.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Brain(2021)10.1093/brain/awab321

N/A

2.9DataRank · unranked

149 citations

Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert +95 more

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

medRxiv(2021)10.1101/2021.03.22.21253711

N/A

0DataRank · unranked

5 citations

Yuanyuan Liu, Cathrine E. Gjerulfsen, Mahmoud Koko, Lukas Sonnenberg, Julian Schubert +95 more

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.005

N/A

0DataRank · unranked

27 citations

José E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer +13 more

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Human Molecular Genetics(2023)10.1093/hmg/ddad069

N/A

0DataRank · unranked

28 citations

Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo, Sabine Grønborg, Emma Krzesinski +14 more

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

European Journal of Paediatric Neurology(2024)10.1016/j.ejpn.2024.03.003

N/A

0DataRank · unranked

29 citations

Daphne H. Schoenmakers, Laura Adang, Stefanie Beck‐Woedl, Caroline Bergner, Geneviève Bernard +23 more

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101176

N/A

0DataRank · unranked

0 citations

Elsebet Østergaard, Daniel J.M. Fernández‐Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado +12 more

A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits

Journal of Neuroscience Research(2025)10.1002/jnr.70040

N/A

0DataRank · unranked

2 citations

Carson Zabel, Sabine Grønborg, Qian Shi, Manzoor A. Bhat, Lacey B. Sell