Claudia Ruivenkamp

Also affiliated with Leiden University 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 7 papers. Top paper: “PURA- Related Developmental and Epileptic Encephalopathy”.

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0.596DataRank · unranked

52 citations

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

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders

Human Molecular Genetics(2022)10.1093/hmg/ddac200

N/A

0.373DataRank · unranked

11 citations

Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota +19 more

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62445

N/A

0DataRank · unranked

27 citations

Anya Revah‐Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla S. Aggarwal +29 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64093

N/A

0DataRank · unranked

2 citations

Chi Vicky Cheng, Stefano Giuseppe Caraffi, Ivan Ivanovski, Gianluca Piatelli, Edoardo Errichiello +29 more

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100102

N/A

0DataRank · unranked

26 citations

Laura Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stéphanie Moortgat +34 more

Heterozygous variants in SPTBN1 cause intellectual disability and autism

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62201

N/A

0DataRank · unranked

28 citations

Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael Parker, Mary Kay Koenig +17 more