Fulya Taylan
Karolinska Institutet
H-index: 20
Europe-Sweden
Top articles of Fulya Taylan
Uncommon variants in FLG2 and NOD2 are associated with atopic dermatitis in the Ethiopian population
JID Innovations
2024/4/29
Fulya Taylan
H-Index: 15
Maria Bradley
H-Index: 17
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
2024/4/1
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans
EMBO Molecular Medicine
2024/2/20
Xiaowei Zheng
H-Index: 5
Fulya Taylan
H-Index: 15
Diagnostic yield from a nationwide implementation of precision medicine for all children with cancer
JCO Precision Oncology
2023/6
813 Rare coding variants in NOX4 link high superoxide levels to psoriatic arthritis mutilans
Journal of Investigative Dermatology
2023/5/1
International Undiagnosed Diseases Programs (UDPs): components and outcomes
2023/11/9
Fulya Taylan
H-Index: 15
Ann Nordgren
H-Index: 30
LB1728 Searching for new candidate genes associated with atopic dermatitis in Ethiopian families
Journal of Investigative Dermatology
2023/9/1
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation
Frontiers in Medicine
2023/7/28
Maria Cerminara 1, Giovanni Spirito2, Livia Pisciotta 1, 3, Margherita Squillario4, Martina Servetti 1, 4, Maria Teresa Divizia 4, Margherita Lerone4, Bianca Berloco 5, Silvia …
Developmental Delay and Intellectual Disability
2022/10/19
Chen Li
H-Index: 6
Fulya Taylan
H-Index: 15
Mosaic deletions of known genes explain skeletal dysplasias with high and low bone mass
Journal of Bone and Mineral Research Plus
2022/8/1
Fulya Taylan
H-Index: 15
Ecosystem models based on artificial intelligence
2022/6/13
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins
Blood Advances
2022/4/12
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Molecular Genetics & Genomic Medicine
2022/4
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1
Journal of Medical Genetics
2022/2/1
Fulya Taylan
H-Index: 15
Ann Nordgren
H-Index: 30
A missense mutation converts the Na+, K+-ATPase into an ion channel and causes therapy-resistant epilepsy
Journal of Biological Chemistry
2021/12/1
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Journal of Human Genetics
2021/10
Oligogenic inheritance of monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS variants leading to a phenotype similar to odontochondrodysplasia
Frontiers in Genetics
2021/6/2
Fulya Taylan
H-Index: 15
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis–and psoriasis-associated genes
Journal of Allergy and Clinical Immunology
2021/5/1
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
Journal of Medical Genetics
2021/5/1
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Journal of Bone and Mineral Research
2020/12/1