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Genetics

D-Index
59
Citations
12400
World Ranking
3245
National Ranking
32

Overview

Zeynep Tümer is affiliated with Copenhagen University Hospital in Denmark and has a research focus primarily in the domains of biochemistry, genetics, and molecular biology. Their scholarly contributions emphasize genetics and neurodevelopmental disorders, genomics and rare diseases, genomic variations, and chromosomal abnormalities. Other central themes of their work include genetic syndromes and imprinting, obsessive-compulsive spectrum disorders, epigenetics and DNA methylation, as well as mitochondrial function and pathology.

Tümer's recent notable publications include the following:

  • Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners (2022, International Journal of Molecular Sciences)
  • Imprinting disorders (2023, Nature Reviews Disease Primers)
  • Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences (2022, Clinical Epigenetics)
  • DLG4-related synaptopathy: a new rare brain disorder (2021, Genetics in Medicine)
  • Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 (2020, Human Genetics)

Frequent co-authors collaborating with Tümer include:

  • Mathis Hildonen (14 co-authored publications)
  • Rikke S. Møller (13 co-authored publications)
  • Amanda M. Levy (10 co-authored publications)
  • Karen Grønskov (9 co-authored publications)
  • Tina Duelund Hjortshøj (9 co-authored publications)

The scientist's work has been published repeatedly in specific venues, with the following journals representing frequent outlets:

  • Clinical Genetics (12 publications)
  • Genes (8 publications)
  • bioRxiv (Cold Spring Harbor Laboratory) (5 publications)
  • European Journal of Human Genetics (4 publications)
  • International Journal of Molecular Sciences (3 publications)

Tümer's expertise spans several subfields, most notably genetics, molecular biology, and cellular and molecular neuroscience, extending also into pediatrics, perinatology, child health, and clinical psychology. The breadth of research topics reflects an interdisciplinary approach connecting molecular mechanisms to clinical phenotypes across numerous genetic and neurodevelopmental conditions.

Best Publications

  • A human phenome-interactome network of protein complexes implicated in genetic disorders

    Kasper Lage;E Olof Karlberg;Zenia M Størling;Páll Í Ólason

  • Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

    Jamel Chelly;Zeynep Tümer;Tønne Tønnesen;Anne Petterson

  • Diagnosis and management of Silver–Russell syndrome: first international consensus statement

    Emma L. Wakeling;Frédéric Brioude;Frédéric Brioude;Oluwakemi Lokulo-Sodipe;Oluwakemi Lokulo-Sodipe;Susan M. O'Connell

  • Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

    Frédéric Brioude;Jennifer M Kalish;Alessandro Mussa;Alison C Foster;Alison C Foster

  • Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Antonie D. Kline;Joanna F. Moss;Angelo Selicorni;Anne Marie Bisgaard

  • Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

    Zeynep Tümer;Daniella Bach-Holm

  • Cornelia de Lange syndrome.

    M.I. Boyle;C. Jespersgaard;K. Brøndum-Nielsen;A.-M. Bisgaard

  • Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

    Rikke S. Møller;Sabine Kübart;Maria Hoeltzenbein;Babett Heye

  • Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Thomas Eggermann;Thomas Eggermann;Guiomar Perez de Nanclares;Eamonn R. Maher;I. Karen Temple;I. Karen Temple

  • Early treatment of Menkes disease with parenteral Cooper‐Histidine: Long‐term follow‐up of four treated patients

    John Christodoulou;David M. Danks;Bibudhendra Sarkar;Kurt E. Baerlocher

  • High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

    Fikret Erdogan;Lars Allen Larsen;Litu Zhang;Zeynep Tumer

  • Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.

    Lisbeth Birk Møller;Zeynep Tümer;Connie Lund;Carsten Petersen

  • An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

    Zeynep Tümer

  • Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

    Linda P. Jakobsen;Reinhard Ullmann;Steen B . Christensen;Karl Erik Jensen

  • Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damage.

    Mikkel A. Rasmussen;Bjørn Holst;Zeynep Tümer;Mads G. Johnsen

  • Genetic anticipation in Behçet’s syndrome

    I Fresko;M Soy;V Hamuryudan;S Yurdakul

  • Menkes disease: recent advances and new aspects.

    Z Tümer;N Horn

  • Identification of point mutations in 41 unrelated patients affected with Menkes disease.

    Z Tumer;C Lund;J Tolshave;Burçak Vural

  • Recent Advances in Imprinting Disorders

    L Soellner;M Begemann;Djg Mackay;K Grønskov

  • Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

    Brioude F;Kalish Jm;Mussa A;Foster Ac

Frequent Co-Authors

Niels Tommerup
Niels Tommerup University of Copenhagen
Karen Brøndum-Nielsen
Karen Brøndum-Nielsen Copenhagen University Hospital
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Reinhard Ullmann
Reinhard Ullmann Max Planck Society
Deborah J.G. Mackay
Deborah J.G. Mackay University of Southampton
Vera M. Kalscheuer
Vera M. Kalscheuer Max Planck Society
Hans-Hilger Ropers
Hans-Hilger Ropers Max Planck Society
Thomas Eggermann
Thomas Eggermann RWTH Aachen University
Eamonn R. Maher
Eamonn R. Maher University of Cambridge
I. Karen Temple
I. Karen Temple University of Southampton

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