Fulya Taylan at Karolinska Institutet - Research Interests, Publications & Academic Profile

Fulya Taylan

Karolinska Institutet

Sweden

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Research Interests

Biostatistics

40%

Epidemiology

40%

Medical Science

80%

Rare Disease

40%

Osteogenesis Imperfecta

30%

Genetic

30%

Exome Sequencing

30%

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Articles16

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

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Year:

2024

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

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Year:

2024

Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy

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Year:

2024

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

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Year:

2024

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

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Year:

2024

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

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Year:

2023

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

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Year:

2023

International Undiagnosed Diseases Programs (UDPs): components and outcomes

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Year:

2023

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

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Year:

2022

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

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Year:

2022

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

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Year:

2022

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

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Year:

2022

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

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Year:

2021

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

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Year:

2021

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

Article Link

Year:

2021

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

Article Link

Year:

2021

Collaborators17

Raquel Vaz

Karolinska Institutet

SWEDEN

Tobias Laurell

Head of Department

SWEDEN

Susanne Fransson

University of Gothenburg

SWEDEN

Ana Beleza-Meireles

University Hospitals Bristol and Weston NHS Foundation Trust

UNITED KINGDOM

Anna Lindstrand

Professor

Karolinska Institutet

SWEDEN

Ann Nordgren

Professor

University of Gothenburg

SWEDEN

Outi Mäkitie

Karolinska Institutet

SWEDEN

Teresita Díaz de Ståhl

Associate Professor

Karolinska Institutet

SWEDEN

Maria Lindskog

senior lecturer

Uppsala Universitet Uppsala biomedicinska centrum

SWEDEN

Arja Harila-Saari

Professor of paediatrics

Uppsala University

SWEDEN

Giorgio Tettamanti

Karolinska Institutet

SWEDEN

Kristina Lagerstedt Robinson

Karolinska Institutet

SWEDEN

Giedre Grigelioniene

SWEDEN

Isabel Tapia-Paez

Karolinska Institutet

SWEDEN

Lorenzo Botto

Professor

University of Utah

UNITED STATES

sailan wang

Karolinska Institutet

SWEDEN

Daniel Nilsson

Karolinska Institutet

SWEDEN

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