Robert J. Hopkin

Cincinnati Children's Hospital Medical Center

MedicineChemistryBiochemistry, 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 6 papers. Top paper: “104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)”.

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)

Journal of Neurology(2024)10.1007/s00415-024-12236-0

N/A

0.803DataRank · unranked

28 citations

Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz‐Manera +79 more

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Neuron(2020)10.1016/j.neuron.2020.02.021

N/A

0.767DataRank · unranked

165 citations

Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo +29 more

Monoallelic and biallelic mutations inRELNunderlie a graded series of neurodevelopmental disorders

Brain(2022)10.1093/brain/awac164

N/A

0DataRank · unranked

22 citations

Renzo Guerrini, Charles J. Billington, A. James Barkovich, Philine Dinkel, Elena Freri +21 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 more

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63397

N/A

0DataRank · unranked

4 citations

April Vanderwal, Sarah E. Chadwell, A.I. Sánchez, Robert J. Hopkin, Robert B. Hufnagel +3 more

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2024)10.1002/ajmg.c.32095

N/A

0DataRank · unranked

3 citations

Andrea Patete, Lindsey Aschbacher‐Smith, Dima Qu’d, Geraldine Kelly‐Mancuso, Carolyn R. Raski +15 more