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Genetics

D-Index
66
Citations
13439
World Ranking
2637
National Ranking
187

Overview

Karin Buiting is affiliated with the University of Duisburg-Essen in Germany, contributing to research primarily in the fields of Biochemistry, Genetics, and Molecular Biology, with additional work in Medicine. Their academic output spans several subfields, including Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, and Immunology and Allergy.

Their research focuses on topics such as Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics, Renal and related cancers, Cell Adhesion Molecules, and the Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities.

Karin Buiting's recent publications include studies in respected journals:

  • Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15, 2020, European Journal of Human Genetics
  • Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age, 2022, Frontiers in Medicine
  • Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature, 2021, Molecular Genetics & Genomic Medicine
  • Cover, 2021, Molecular Genetics & Genomic Medicine

The venues where their work has frequently appeared are:

  • Molecular Genetics & Genomic Medicine
  • European Journal of Human Genetics
  • Frontiers in Medicine

Collaborations include multiple co-authors with whom Karin Buiting has worked repeatedly, notably:

  • Jasmin Beygo
  • Hela Sassi
  • Yasmina Elaribi
  • Houweyda Jilani
  • Imen Rejeb

Best Publications

  • Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.

    Jérôme Cavaillé;Karin Buiting;Martin Kiefmann;Marc Lalande

  • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

    Karin Buiting;Shinji Saitoh;Shinji Saitoh;Stephanie Gross;Bärbel Dittrich

  • The IC-SNURF–SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

    Maren Runte;Alexander Hüttenhofer;Stephanie Groß;Martin Kiefmann

  • Prader-Willi Syndrome and Angelman Syndrome

    Karin Buiting

  • Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

    Karin Buiting;Stephanie Groß;Christina Lich;Gabriele Gillessen-Kaesbach

  • Angelman syndrome - insights into a rare neurogenetic disorder.

    Karin Buiting;Charles Williams;Bernhard Horsthemke

  • Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

    T. Ohta;T. A. Gray;P. K. Rogan;K. Buiting

  • Genomic Organization and Partial Duplication of the Human α7 Neuronal Nicotinic Acetylcholine Receptor Gene (CHRNA7)

    Judith Gault;Misi Robinson;Ralph Berger;Carla Drebing

  • Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

    Bärbel Dittrich;Karin Buiting;Bernd Korn;Sarah Rickard

  • Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

    A. Reis;B. Dittrich;V. Greger;K. Buiting

  • Maternal methylation imprints on human chromosome 15 are established during or after fertilization

    Osman El-Maarri;Karin Buiting;Edwin G. Peery;Peter M. Kroisel

  • Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

    Bärbel Dittrich;Wendy P. Robinson;Hans Knoblauch;Karin Buiting

  • Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method

    Michael Zeschnigk;Birgit Schmitz;Bärbel Dittrich;Karin Buiting

  • A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.

    Michael Zeschnigk;Christina Lich;Karin Buiting;Walter Doerfler

  • De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.

    Beata Bielinska;Susan M. Blaydes;Karin Buiting;Tao Yang

  • Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis

    A. Kuwano;A. Mutirangura;B. Dittrich;K. Buiting

  • Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

    Shinji Saitoh;Karin Buiting;Peter K. Rogan;Jessica L. Buxton

  • Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

    K. Buiting;B. Dittrich;S. Gross;C. Lich

  • Molecular and Clinical Aspects of Angelman Syndrome.

    A. Dagli;K. Buiting;C.A. Williams

  • A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

    Deniz Kanber;Jacques Giltay;Dagmar Wieczorek;Corinna Zogel

Frequent Co-Authors

Bernhard Horsthemke
Bernhard Horsthemke University of Duisburg-Essen
Gabriele Gillessen-Kaesbach
Gabriele Gillessen-Kaesbach University of Lübeck
Thomas Eggermann
Thomas Eggermann RWTH Aachen University
Reiner Siebert
Reiner Siebert University of Ulm
Robert D. Nicholls
Robert D. Nicholls University of Pittsburgh
Dagmar Wieczorek
Dagmar Wieczorek Heinrich Heine University Düsseldorf
Deborah J.G. Mackay
Deborah J.G. Mackay University of Southampton
I. Karen Temple
I. Karen Temple University of Southampton
Beate Albrecht
Beate Albrecht University of Duisburg-Essen
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester

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