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Hülya Kayserili

Hülya Kayserili

D-Index & Metrics

Genetics

D-Index
81
Citations
24127
World Ranking
1524
National Ranking
1

Research.com Recognitions

  • The Science Academy Society of Turkey - Bilim Akademisi Medical Genetics
  • The Science Academy Society of Turkey - Bilim Akademisi Medical Genetics

Overview

Hülya Kayserili is affiliated with Koç University in Turkey and has a significant research footprint in the fields of Biochemistry, Genetics, and Molecular Biology, with a particular focus on Molecular Biology and Genetics. Their work extends into Medicine, concentrating on areas such as Surgery, Oncology, and Cell Biology.

The research topics covered by Hülya Kayserili include:

  • Ubiquitin and proteasome pathways
  • Genetics and Neurodevelopmental Disorders
  • RNA modifications and cancer
  • Mitochondrial Function and Pathology
  • RNA Research and Splicing
  • Hedgehog Signaling Pathway Studies
  • Connective tissue disorders research

Prominent publication venues for their research include:

  • Clinical Genetics
  • Nature Communications
  • American Journal of Medical Genetics Part A
  • Molecular Syndromology
  • bioRxiv (Cold Spring Harbor Laboratory)

Frequent co-authors collaborating with Hülya Kayserili are:

  • Umut Altunoğlu
  • Zehra Oya Uyguner
  • Şahin Avcı
  • Bruno Reversade
  • Tuğba Kalaycı

Some of the recent papers associated with Hülya Kayserili include:

  • Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology, 2020, Nature Communications
  • A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling, 2020, The Journal of Experimental Medicine
  • DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling, 2022, Science Immunology
  • Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2, 2020, Neuron
  • Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement, 2024, Journal of Medical Genetics

Hülya Kayserili has received recognition from The Science Academy Society of Turkey - Bilim Akademisi for their work in Medical Genetics.

Best Publications

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

    Darío G. Lupiáñez;Darío G. Lupiáñez;Katerina Kraft;Katerina Kraft;Verena Heinrich;Peter Krawitz;Peter Krawitz

  • Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).

    Patrick Revy;Taro Muto;Yves Levy;Frédéric Geissmann

  • Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

    Daniel Beltrán Valero De Bernabé;Sophie Currier;Alice Steinbrecher;Jacopo Celli

  • Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

    Gaia Novarino;Ali G. Fenstermaker;Maha S. Zaki;Matan Hofree

  • 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

  • p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

    Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

    Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva

  • Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

    Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk

  • TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

    Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  • Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  • Responsible implementation of expanded carrier screening

    Lidewij Henneman;Pascal Borry;Davit Chokoshvili;Davit Chokoshvili;Martina C Cornel

  • Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

    A. B. van Kuilenburg;P. Vreken;N. G. Abeling;H. D. Bakker

  • Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

    Tracy Dixon-Salazar;Jennifer L. Silhavy;Sarah E. Marsh;Carrie M. Louie

  • Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

    Gaia Novarino;Paul El-Fishawy;Hulya Kayserili;Nagwa A. Meguid

  • Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

    J.H.L.M. van Bokhoven;J. Celli;H. Kayserili;E. van Beusekom

  • Mutations in WNT1 Cause Different Forms of Bone Fragility

    Katharina Keupp;Filippo Beleggia;Hülya Kayserili;Aileen M. Barnes

  • CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

    Ashleigh E. Schaffer;Veerle R.C. Eggens;Ahmet Okay Caglayan;Miriam S. Reuter

  • Mutations in PYCR1 cause cutis laxa with progeroid features

    Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  • Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

    Jan Halbritter;Albane A. Bizet;Miriam Schmidts;Jonathan D. Porath

  • Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

    H.-J. Lüdecke;J. Schaper;P. Meinecke;P. Momeni

Frequent Co-Authors

Bernd Wollnik
Bernd Wollnik University of Göttingen
Joseph G. Gleeson
Joseph G. Gleeson University of California, San Diego
Bruno Reversade
Bruno Reversade Agency for Science, Technology and Research
Han G. Brunner
Han G. Brunner Radboud University
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
Enza Maria Valente
Enza Maria Valente University of Pavia
Peter Nürnberg
Peter Nürnberg University of Cologne
Francesco Brancati
Francesco Brancati University of L'Aquila
Stefan Mundlos
Stefan Mundlos Max Planck Society
Maha S. Zaki
Maha S. Zaki National Research Centre, Egypt

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