Fulya Taylan

Karolinska University Hospital — Sweden

Biochemistry, Genetics and Molecular Biology · Life Sciences

23h-index1.8kcitations80works2.42yr avg
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Research Topics

Genomics and Rare Diseases(16), Connective tissue disorders research(15), Bone health and treatments(8), Acute Lymphoblastic Leukemia research(7), Dermatology and Skin Diseases(6)

Publications79 total

Implementing Electronic Informed Consent in Rare Disease Genomics
2025Open Access
Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome – a matched cohort study
British Journal of Cancer·2025Open Access
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Journal of Clinical Investigation·2025· 2 citedOpen Access
Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition
Frontiers in Genetics·2025Open Access
Cumulative microscopy reveals cellular states in fibroblasts from patients with genetic disorders
2025Open Access
Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With <scp> <i>DNA2</i> </scp> ‐Related Rothmund–Thomson Syndrome
American Journal of Medical Genetics Part A·2025· 3 cited
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
Nature Medicine·2025· 1 cited
The Nordic ChiCaP Network: An interdisciplinary approach to childhood cancer predisposition
Rare·2025Open Access
Review for "Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey"
2024
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications
American Journal of Case Reports·2024Open Access
254 Genetics and functional studies of NOX4 for Psoriatic Arthritis Mutilans
Journal of Investigative Dermatology·2024
Review for "Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey"
2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Nature Genetics·2024· 7 citedOpen Access
Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis
Health Informatics Journal·2024Open Access
Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy
Neurology·2024· 5 citedOpen Access
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature
American Journal of Medical Genetics Part A·2024· 1 citedOpen Access
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
npj Genomic Medicine·2024· 4 citedOpen Access
Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population
JID Innovations·2024· 3 citedOpen Access
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study
The Lancet Regional Health - Europe·2024· 14 citedOpen Access
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans
EMBO Molecular Medicine·2024· 8 citedOpen Access
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Frequent Co-authors

Ann Nordgren(26), Anna Lindstrand(13), Outi Mäkitie(13), Magnus Nordenskjöld(11), Daniel Nilsson(9), Kristina Lagerstedt‐Robinson(9), Alice Costantini(9), Giedré Grigelioniené(8), Anders Kämpe(7), Jesper Eisfeldt(7), Anna Hammarsjö(6), Bianca Tesi(6), Vasilios Zachariadis(6), Gen Nishimura(5), Maria Pettersson(5), Malin Kvarnung(5), Britt‐Marie Anderlid(4), Ender Altıok(4), Samina Asad(4), Carl‐Fredrik Wahlgren(4)