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Genetics

D-Index
69
Citations
17863
World Ranking
2346
National Ranking
35

Overview

R. Frank Kooy is affiliated with the University of Antwerp in Belgium, with a research focus largely situated within the realms of biochemistry, genetics, and molecular biology. Their scholarly work encompasses a range of topics including genetics and neurodevelopmental disorders, genomics and rare diseases, as well as genomic variations and chromosomal abnormalities.

The scientist has explored diverse main topics in their research, such as:

  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Autism Spectrum Disorder Research
  • RNA modifications and cancer
  • Epigenetics and DNA Methylation
  • RNA Research and Splicing

Kooy's contribution to subfields includes work in:

  • Genetics
  • Molecular Biology
  • Cognitive Neuroscience
  • Cellular and Molecular Neuroscience
  • Physiology

Research outputs have appeared in multiple publication venues, with frequent contributions to:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • European Journal of Human Genetics
  • Faculty Opinions - Post-Publication Peer Review of the Biomedical Literature
  • Clinical Epigenetics
  • Nature Communications

Some notable recent papers authored or co-authored by Kooy include:

  • "Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders," 2020, Nature Communications
  • "Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders," 2021, Genome Medicine
  • "Tauopathy in the young autistic brain: novel biomarker and therapeutic target," 2020, Translational Psychiatry
  • "PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework," 2023, Nature Genetics
  • "A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions," 2020, The American Journal of Human Genetics

Collaborative work plays a significant role in Kooy's research activities. Frequent co-authors include:

  • Anke Van Dijck
  • Claudio Peter D'Incal
  • Dale Annear
  • Ellen Elinck
  • Kevin De Man

Best Publications

  • The Collaborative Cross, a community resource for the genetic analysis of complex traits

    Gary A. Churchill;David C. Airey;Hooman Allayee;Joe M. Angel

  • Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination

    Scott A. Irwin;Biraju Patel;Madhuri Idupulapati;Jennifer B. Harris

  • A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

    R. G. Walters;S. Jacquemont;A. Valsesia;A. Valsesia;A. Valsesia;A. J. de Smith

  • Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Holly A.F. Stessman;Bo Xiong;Bo Xiong;Bradley P. Coe;Tianyun Wang

  • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  • A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

    David A. Koolen;Lisenka E.L.M. Vissers;Rolph Pfundt;Nicole De Leeuw

  • Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

    Sarah L. Nolin;W. Ted Brown;Anne Glicksman;George E. Houck

  • Decreased expression of the GABAA receptor in fragile X syndrome.

    Charlotte D'Hulst;Natalie De Geest;Simon P. Reeve;Debby Van Dam

  • A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    Céline Helsmoortel;Anneke T Vulto-van Silfhout;Bradley P Coe;Geert Vandeweyer

  • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

    Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  • Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

    Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  • L1 Knockout Mice Show Dilated Ventricles, Vermis Hypoplasia and Impaired Exploration Patterns

    Erik Fransen;Rudi D'Hooge;Guy Van Camp;Marleen Verhoye

  • The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

    Sien Braat;R. Frank Kooy

  • The complexity of the GABAA receptor shapes unique pharmacological profiles.

    Charlotte D’Hulst;John R. Atack;R. Frank Kooy

  • Transgenic mouse model for the fragile X syndrome.

    R. Frank Kooy;Rudi D'Hooge;Edwin Reyniers;Cathy E. Bakker

  • Mildly impaired water maze performance in male Fmr1 knockout mice

    Rudi D'Hooge;G. Nagels;F. Franck;C.E. Bakker

  • Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

    Nathalie Van der Aa;Liesbeth Rooms;Geert Vandeweyer;Jenneke van den Ende

  • Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

    Ilse Gantois;Jo Vandesompele;Frank Speleman;Edwin Reyniers

  • Long‐term potentiation in the hippocampus of fragile X knockout mice

    Jean-Marie Godfraind;E Reyniers;K De Boulle;R D'Hooge

  • Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS).

    Charlotte D'Hulst;Inge Heulens;Judith R. Brouwer;Rob Willemsen

Frequent Co-Authors

Jozef Gecz
Jozef Gecz University of Adelaide
Corrado Romano
Corrado Romano I.R.C.C.S. Oasi Maria SS
Evan E. Eichler
Evan E. Eichler University of Washington
Raphael Bernier
Raphael Bernier University of Washington
Ann Nordgren
Ann Nordgren Karolinska University Hospital
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Bert B.A. de Vries
Bert B.A. de Vries Radboud University
Peter Paul De Deyn
Peter Paul De Deyn University of Antwerp
Rob Willemsen
Rob Willemsen Erasmus University Rotterdam
Charles E. Schwartz
Charles E. Schwartz Greenwood Genetic Center

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