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Fulya Taylan

Karolinska Institutet

Sweden

Research Interests

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Professors in Sweden Professors in Biostatistics Biostatistics professors in Sweden

Articles (31)

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Collaborators (51)

Michela Ori

Associate Professor

University of Pisa

ITALY

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Raquel Vaz

Karolinska Institutet

SWEDEN

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Tobias Laurell

Head of Department

SWEDEN

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Susanne Fransson

University of Gothenburg

SWEDEN

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Ana Beleza-Meireles

University Hospitals Bristol and Weston NHS Foundation Trust

UNITED KINGDOM

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Jochen M Schwenk

KTH Royal Institute of Technology

SWEDEN

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Peer Arts

Scientific staff

Maastricht University Medical Centre

NETHERLANDS

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Arne Lindqvist

Karolinska Institutet

SWEDEN

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Jan Albert

Karolinska Institutet

SWEDEN

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Mia Wadelius

Professor MD

Uppsala University

SWEDEN

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Susann Karlberg

University of Helsinki

FINLAND

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Anna Lindstrand

Professor

Karolinska Institutet

SWEDEN

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Ann Nordgren

Professor

University of Gothenburg

SWEDEN

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Nicola Whiffin

Imperial College London

UNITED KINGDOM

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Sabine Koch

Karolinska Institutet

SWEDEN

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Tobias Sjöblom

Professor at Uppsala University

Uppsala University

SWEDEN

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Adam Ameur

Uppsala University

SWEDEN

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Outi Mäkitie

Karolinska Institutet

SWEDEN

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Teresita Díaz de Ståhl

Associate Professor

Karolinska Institutet

SWEDEN

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Zahra Haider

Karolinska Institutet

SWEDEN

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Maria Lindskog

senior lecturer

Uppsala Universitet Uppsala biomedicinska centrum

SWEDEN

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Andrei Chagin

University of Gothenburg

SWEDEN

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Arja Harila-Saari

Professor of paediatrics

Uppsala University

SWEDEN

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Magnus Nordenskjöld

Professor of Clinical Genetics

Karolinska Institutet

SWEDEN

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Anna Skarin Nordenvall

Karolinska Institutet

SWEDEN

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Nikolas Herold

Karolinska University Hospital

SWEDEN

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Giorgio Tettamanti

Karolinska Institutet

SWEDEN

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Kristina Lagerstedt Robinson

Karolinska Institutet

SWEDEN

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Panagiotis Baliakas

Uppsala University

SWEDEN

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Malin Sund

Professor/Consultant

University of Helsinki

FINLAND

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Giedre Grigelioniene

Karolinska Institutet

SWEDEN

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David J. Amor

University of Melbourne

AUSTRALIA

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Ayo Wahlberg

Professor

Københavns Universitet

DENMARK

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Isabel Tapia-Paez

Karolinska Institutet

SWEDEN

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Åsa Johansson

Uppsala University

SWEDEN

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Thoas Fioretos

Professor, senior consultant

Lund University Medical Faculty

SWEDEN

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David Gisselsson

Professor of Molecular Pathology

Lund University

SWEDEN

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Hans Ehrencrona

Head of Clinical Genetics

Skåne University Hospital

SWEDEN

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Jessica Nordlund

Associate Professor & Research Group Leader at Uppsala University

Uppsala University

SWEDEN

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Lorenzo Botto

Professor

University of Utah

UNITED STATES

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sailan wang

Karolinska Institutet

SWEDEN

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Alexander Blakes

Honorary Academic Clinical Fellow

The University of Manchester

UNITED KINGDOM

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Lauge Holm Sørensen

Rigshospitalet

DENMARK

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Olivia Jayne Henry

Karolinska Institutet

SWEDEN

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Päivi Östling

Karolinska Institutet

SWEDEN

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Jamie Ellingford

The University of Manchester

UNITED KINGDOM

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Antonio Vitobello

Full professor

Université de Bourgogne

FRANCE

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Huw Thomas

The University of Manchester

UNITED KINGDOM

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Anna Martling

Karolinska Institutet

SWEDEN

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Daniel Nilsson

Karolinska Institutet

SWEDEN

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Fulya Taylan

Research Interests

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Articles (31)

Cumulative microscopy reveals cellular states in fibroblasts from patients with genetic disorders

Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.

Genomic Medicine Sweden: Advancing precision medicine at the national level

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Seasonal variation in childhood acute lymphoblastic leukemia, but not in acute myeloid leukemia, or brain tumors – A Swedish population-based study

Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome – a matched cohort study

Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort

Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2‐Related Rothmund–Thomson Syndrome

Implementing electronic informed consent in rare disease genomics.

The Nordic ChiCaP Network

Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition

Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population.

Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature

Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy

Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

Seasonal variation exists in B-Cell Precursor Childhood Acute Lymphoblastic Leukemia diagnosis, but not in Acute Myeloid Leukemia, Brain Tumors or Solid Tumors - a Swedish population-based study

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis

Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

International Undiagnosed Diseases Programs (UDPs): components and outcomes

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

Collaborators (51)

Michela Ori

Raquel Vaz

Tobias Laurell

Susanne Fransson

Ana Beleza-Meireles

Jochen M Schwenk

Peer Arts

Arne Lindqvist

Jan Albert

Mia Wadelius

Susann Karlberg

Anna Lindstrand

Ann Nordgren

Nicola Whiffin

Sabine Koch

Tobias Sjöblom

Adam Ameur

Outi Mäkitie

Teresita Díaz de Ståhl

Zahra Haider

Maria Lindskog

Andrei Chagin

Arja Harila-Saari

Magnus Nordenskjöld

Anna Skarin Nordenvall

Nikolas Herold

Giorgio Tettamanti

Kristina Lagerstedt Robinson

Panagiotis Baliakas

Malin Sund

Giedre Grigelioniene

David J. Amor

Ayo Wahlberg

Isabel Tapia-Paez

Siddharth Banka

Åsa Johansson

Thoas Fioretos

David Gisselsson

Hans Ehrencrona

Jessica Nordlund

Lorenzo Botto

sailan wang

Alexander Blakes