Gijs van Haaften

Also affiliated with University Medical Center Utrecht

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 5 papers. Top paper: “Spliceosome malfunction causes neurodevelopmental disorders with overlapping features”.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0.578DataRank · unranked

46 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Behavioral and cognitive functioning in individuals with Cantú syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62348

N/A

0DataRank · unranked

6 citations

Lieke M. van den Heuvel, Kathleen S. Shields, Kristin P. Guilliams, Nine V.A.M. Knoers, Gijs van Haaften +3 more

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9

European Journal of Human Genetics(2022)10.1038/s41431-022-01210-x

N/A

0DataRank · unranked

6 citations

Conor McClenaghan, Imke Christiaans, Mariëlle Alders, Kirsten van Duinen, Mieke M. van Haelst +3 more

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Brain(2024)10.1093/brain/awae010

N/A

0DataRank · unranked

14 citations

Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang +24 more

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype

The Nephron journals/Nephron journals(2025)10.1159/000549598

N/A

0DataRank · unranked

0 citations

Rozemarijn Snoek, Siebren Faber, Aurelius J.C. Roskothen-Shevchuk, Elena Sendino Garví, Edith Peters +30 more