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F. Taylan · SciRah

Researcher profile · Semantic Scholar

F. Taylan

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F. Taylan — researcher profile on SciRah

h-index: 22
Works: 86
Citations: 1,580

Most-cited papers

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
C. Brownstein, A. Beggs, N. Homer, Barry Merriman +194 more
2014Genome Biology308 citations Open access
Semantic Scholar
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
I. Kapferer-Seebacher, M. Pepin, Roland Werner, T. Aitman +51 more
2016American Journal of Human Genetics104 citations Open access
Semantic Scholar
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
G. Grigelioniene, Hiroshi I. Suzuki, F. Taylan, Fatemeh Mirzamohammadi +16 more
2019Nature Medicine90 citations Open access
Semantic Scholar
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
C. Ferreira, Zhi-Jie Xia, A. Clément, David A. Parry +50 more
2018American Journal of Human Genetics67 citations Open access
Semantic Scholar
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
A. Lindstrand, G. Grigelioniene, D. Nilsson, M. Pettersson +16 more
2013Journal of Medical Genetics63 citations
Semantic Scholar
A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset
E. Altiok, F. Aksoy, Y. Perk, F. Taylan +5 more
2012Clinical Immunology58 citations Open access
Semantic Scholar
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
F. Taylan, A. Costantini, Nicole Coles, M. Pekkinen +8 more
2016Journal of Bone and Mineral Research47 citations Open access
Semantic Scholar
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
Anders Kämpe, A. Costantini, Riikka E. Mäkitie, N. Jäntti +7 more
2017Osteoporosis International44 citations Open access
Semantic Scholar
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
A. Kämpe, A. Costantini, Y. Levy-Shraga, L. Zeitlin +11 more
2017Journal of Bone and Mineral Research43 citations Open access
Semantic Scholar
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
A. Hammarsjö, M. Pettersson, D. Chitayat, A. Handa +29 more
2021Journal of Human Genetics38 citations Open access
Semantic Scholar
The tight junction gene Claudin‐1 is associated with atopic dermatitis among Ethiopians
S. Asad, M. Winge, C. Wahlgren, Kassahun Desalegn Bilcha +3 more
2016Journal of the European Academy of Dermatology and Venereology38 citations
Semantic Scholar
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.
F. Taylan, D. Nilsson, S. Asad, A. Liedén +5 more
2015Journal of Allergy and Clinical Immunology35 citations
Semantic Scholar
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
A. Hammarsjö, Zheng Wang, R. Vaz, F. Taylan +22 more
2017Scientific Reports32 citations Open access
Semantic Scholar
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
M. Kvarnung, F. Taylan, D. Nilsson, B. Anderlid +7 more
2018Clinical Genetics31 citations
Semantic Scholar
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
Elisabeth Wadensten, Sandra Wessman, F. Abel, Teresita Diaz De Ståhl +35 more
2023JCO Precision Oncology30 citations Open access
Semantic Scholar
Chromatin Interactions in Differentiating Keratinocytes Reveal Novel Atopic Dermatitis and Psoriasis-Associated Genes.
P. Sahlén, R. Spalinskas, S. Asad, K. Das Mahapatra +16 more
2020Journal of Allergy and Clinical Immunology30 citations Open access
Semantic Scholar
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Hai-Cui Wang, C. Salter, Osama Refai, Holly Hardy +20 more
2017Brain : a journal of neurology30 citations Open access
Semantic Scholar
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
K. Andersson, B. Malmgren, E. Åström, A. Nordgren +2 more
2020Orphanet Journal of Rare Diseases27 citations Open access
Semantic Scholar
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
A. Costantini, S. Skarp, A. Kämpe, R. Mäkitie +6 more
2017Frontiers in Endocrinology27 citations Open access
Semantic Scholar
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes
F. Taylan, O. Mäkitie
2016Hormone and Metabolic Research26 citations
Semantic Scholar
Two novel mutations in XYLT2 cause spondyloocular syndrome
F. Taylan, Zehra Yavaş Abalı, N. Jäntti, N. Güneş +6 more
2017American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
M. Kvarnung, F. Taylan, D. Nilsson, M. Albåge +4 more
2016Clinical Genetics25 citations
Semantic Scholar
A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy
Sofia Ygberg, E. Akkuratov, R. Howard, F. Taylan +12 more
2021Journal of Biological Chemistry22 citations Open access
Semantic Scholar
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study
B. Tesi, K. Robinson, F. Abel, Teresita Díaz de Ståhl +45 more
2024The Lancet Regional Health - Europe21 citations Open access
Semantic Scholar
A novel frameshift deletion in PLS3 causing severe primary osteoporosis
A. Costantini, P. Krallis, A. Kämpe, E. Karavitakis +3 more
2018Journal of Human Genetics21 citations
Semantic Scholar
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility
R. Mäkitie, A. Kämpe, F. Taylan, O. Mäkitie
2017Current Osteoporosis Reports20 citations Open access
Semantic Scholar
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1
E. Pontén, S. Frisk, F. Taylan, Raquel Vaz +6 more
2020Journal of Medical Genetics19 citations Open access
Semantic Scholar
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
S. Frisk, Alexandra Wachtmeister, Tobias Laurell, A. Lindstrand +6 more
2022Molecular Genetics & Genomic Medicine18 citations Open access
Semantic Scholar
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, F. Taylan, P. O. Simsek-Kiper +28 more
2023Journal of Bone and Mineral Research16 citations Open access
Semantic Scholar
Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis
K. Fernandez, S. Asad, F. Taylan, C. Wahlgren +4 more
2017Pediatric dermatology15 citations
Semantic Scholar
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
S. Frisk, F. Taylan, Izabela Blaszczyk, I. Nennesmo +8 more
2019Clinical Genetics13 citations Open access
Semantic Scholar
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.
Tekla Järviaho, B. Bang, V. Zachariadis, F. Taylan +6 more
2019Blood Advances13 citations Open access
Semantic Scholar
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
A. Costantini, S. Tournis, A. Kämpe, Noor Ul Ain +3 more
2018Calcified Tissue International13 citations
Semantic Scholar
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing
A. Tran, F. Taylan, V. Zachariadis, Ingegerd Ivanov Öfverholm +7 more
2018PLoS ONE12 citations Open access
Semantic Scholar
International Undiagnosed Diseases Programs (UDPs): components and outcomes
Ela Curic, L. Ewans, Ryan Pysar, F. Taylan +4 more
2023Orphanet Journal of Rare Diseases11 citations Open access
Semantic Scholar
Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report.
İ. Özbudak, C. Başsorgun, G. Ozbilim, G. Lüleci +4 more
2012Türk Patoloji Dergisi11 citations Open access
Semantic Scholar
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
A. Delgado-Vega, H. Cederroth, F. Taylan, Katja Ekholm +101 more
2024Nature Genetics10 citations Open access
Semantic Scholar
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans
Sailan Wang, P. Nikamo, Leena Laasonen, B. Gudbjornsson +11 more
2024EMBO Molecular Medicine9 citations Open access
Semantic Scholar
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
N. Ain, Marta Baroncelli, A. Costantini, Tayyaba Ishaq +4 more
2020Journal of Medical Genetics9 citations Open access
Semantic Scholar
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
Ingegerd Ivanov Öfverholm, V. Zachariadis, F. Taylan, Yanara Marincevic-Zuniga +11 more
2019Leukemia and Lymphoma9 citations Open access
Semantic Scholar
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
M. Kvarnung, Mansoureh Shahsavani, F. Taylan, M. Moslem +14 more
2019Frontiers in Genetics9 citations Open access
Semantic Scholar
Meiotic recombinations within major histocompatibility complex of human embryos
F. Taylan, E. Altiok
2012Immunogenetics9 citations
Semantic Scholar
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia
A. Costantini, H. Valta, Anne-Maarit Suomi, O. Mäkitie +1 more
2021Frontiers in Genetics8 citations Open access
Semantic Scholar
Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy
Carolina Maya-González, G. Tettamanti, F. Taylan, Anna Skarin Nordenvall +2 more
2024Neurology7 citations
Semantic Scholar
Ecosystem Models Based on Artificial Intelligence
Claes Strannegård, N. Engsner, J. Eisfeldt, J. Endler +9 more
2022Annual Workshop of the Swedish Artificial Intelligence Society7 citations Open access
Semantic Scholar
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins
B. Bang, J. Eisfeldt, G. Barbany, A. Harila-Saari +4 more
2022Blood Advances7 citations Open access
Semantic Scholar
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
Carolina Maya-González, Sandra Wessman, K. Lagerstedt-Robinson, F. Taylan +12 more
2023Frontiers in Medicine6 citations Open access
Semantic Scholar
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia
Tekla Järviaho, V. Zachariadis, B. Tesi, Samuel C. C. Chiang +9 more
2018British Journal of Haematology6 citations Open access
Semantic Scholar
Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome – a matched cohort study
Anna Skarin Nordenvall, Fredrik Persson, A. Martling, M. Nordenskjöld +5 more
2025British Journal of Cancer5 citations Open access
Semantic Scholar
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson, Julien Paccaud, M. Orefice, E. Colin +91 more
2025Journal of Clinical Investigation5 citations Open access
Semantic Scholar

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