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Genetics

D-Index
64
Citations
20468
World Ranking
2763
National Ranking
104

Overview

Quinten Waisfisz is affiliated with Vrije Universiteit Amsterdam in the Netherlands. Their research significantly intersects the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a focus on Molecular Biology, Genetics, Immunology, Oncology, and Rheumatology as subfields.

The scientist's work covers several core topics, among them:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic Variations and Chromosomal Abnormalities
  • Genomics and Chromatin Dynamics
  • RNA Modifications and Cancer
  • RNA Regulation and Disease
  • Ion Channel Regulation and Function

Waisfisz's recent publications, demonstrating a focus on neurodevelopmental and genetic disorders, include:

  • Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum, 2020, The American Journal of Human Genetics
  • Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2, 2020, The American Journal of Human Genetics
  • Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders, 2020, Brain
  • Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome, 2022, The American Journal of Human Genetics
  • Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome, 2022, The American Journal of Human Genetics

The primary publication venues for Waisfisz include:

  • The American Journal of Human Genetics (7 publications)
  • European Journal of Human Genetics (5 publications)
  • Brain (4 publications)
  • Genetics in Medicine (3 publications)
  • bioRxiv (Cold Spring Harbor Laboratory) (2 publications)

Frequent research collaborators associated with Waisfisz are:

  • Mieke M. van Haelst
  • Hanne Meijers-Heijboer
  • Johanna M. van Hagen
  • Marco Tartaglia
  • Rolph Pfundt

Best Publications

  • Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

    Bjarni J. Vilhjálmsson;Jian Yang;Hilary K. Finucane;Alexander Gusev

  • Biallelic Inactivation of BRCA2 in Fanconi Anemia

    Niall G. Howlett;Toshiyasu Taniguchi;Susan Olson;Barbara Cox

  • Association analysis identifies 65 new breast cancer risk loci

    Kyriaki Michailidou;Kyriaki Michailidou;Sara Lindström;Sara Lindström;Joe Dennis;Jonathan Beesley

  • Large-scale genotyping identifies 41 new loci associated with breast cancer risk

    Kyriaki Michailidou;Per Hall;Anna Gonzalez-Neira;Maya Ghoussaini

  • A novel ubiquitin ligase is deficient in Fanconi anemia

    Amom Ruhikanta Meetei;Johan P de Winter;Annette L Medhurst;Michael Wallisch

  • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

    Kyriaki Michailidou;Jonathan Beesley;Sara Lindstrom;Sander Canisius

  • MicroRNA related polymorphisms and breast cancer risk

    Sofia Khan;Dario Greco;Dario Greco;Kyriaki Michailidou;Roger L. Milne;Roger L. Milne

  • The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

    Marieke Levitus;Quinten Waisfisz;Barbara C Godthelp;Yne de Vries

  • High stem cell frequency in acute myeloid leukemia at diagnosis predicts high minimal residual disease and poor survival.

    Anna van Rhenen;Nicole Feller;Angèle Kelder;August H. Westra

  • Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.

    Anders O. H. Nygren;Najim Ameziane;Helena M. B. Duarte;Raymon N. C. P. Vijzelaar

  • The Fanconi anaemia group G gene FANCG is identical with XRCC9.

    de Winter Jp;Waisfisz Q;Rooimans Ma;van Berkel Cg

  • Genome-wide association studies identify four ER negative-specific breast cancer risk loci

    Montserrat Garcia-Closas;Fergus J. Couch;Sara Lindstrom;Kyriaki Michailidou

  • Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

    Hugo Vega;Hugo Vega;Quinten Waisfisz;Miriam Gordillo;Miriam Gordillo;Norio Sakai

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Genome-wide association analysis identifies three new breast cancer susceptibility loci

    Maya Ghoussaini;Olivia Fletcher;Kyriaki Michailidou;Clare Turnbull

  • The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM

    de Winter Jp;Rooimans Ma;van Der Weel L;van Berkel Cg

  • Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

    Stefan Gräf;Matthias Haimel;Marta Bleda;Charaka Hadinnapola

  • Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

    Marieke Levitus;Marieke Levitus;Martin A. Rooimans;Martin A. Rooimans;Jûrgen Steltenpool;Jûrgen Steltenpool;Nicolle F. C. Cool;Nicolle F. C. Cool

  • Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene.

    Johan P. de Winter;Carola G.M. van Berkel;Martin A. Rooimans

  • The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG

    Johan P. de Winter;Laura van der Weel;Jan de Groot;Stacie Stone

Frequent Co-Authors

Hans Joenje
Hans Joenje VU University Medical Center
Johan P. de Winter
Johan P. de Winter VU University Medical Center
Fré Arwert
Fré Arwert VU University Medical Center
Graham G. Giles
Graham G. Giles University of Melbourne
Esther M. John
Esther M. John Stanford University
Heli Nevanlinna
Heli Nevanlinna University of Helsinki
Douglas F. Easton
Douglas F. Easton University of Cambridge
Irene L. Andrulis
Irene L. Andrulis University of Toronto
Hiltrud Brauch
Hiltrud Brauch German Cancer Research Center

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