Fulya Taylan
TitleCited byYear
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, WY Timothy, ...
Genome biology 15 (3), R53, 2014
762014
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
A Lindstrand, G Grigelioniene, D Nilsson, M Pettersson, W Hofmeister, ...
Journal of medical genetics 51 (1), 45-54, 2014
372014
A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset
E Altiok, F Aksoy, Y Perk, F Taylan, PW Kim, B Ilıkkan, GT Asal, ...
Clinical Immunology 145 (1), 77-81, 2012
292012
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, R Werner, TJ Aitman, A Nordgren, ...
The American Journal of Human Genetics 99 (5), 1005-1014, 2016
212016
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
F Taylan, A Costantini, N Coles, M Pekkinen, E Héon, Z Şıklar, ...
Journal of Bone and Mineral Research 31 (8), 1577-1585, 2016
202016
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis
F Taylan, D Nilsson, S Asad, A Lieden, CF Wahlgren, MCG Winge, ...
Journal of Allergy and Clinical Immunology 136 (2), 507-509. e19, 2015
172015
Abnormal proteoglycan synthesis due to gene defects causes skeletal diseases with overlapping phenotypes
F Taylan, O Mäkitie
Hormone and Metabolic Research 48 (11), 745-754, 2016
132016
Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006.
E Altiok, F Taylan, OS Yenen, G Demirkeser, M Bozaci, D Onel, ...
Emerging infectious diseases 14 (3), 491-492, 2008
112008
The tight junction gene Claudin‐1 is associated with atopic dermatitis among Ethiopians
S Asad, MCG Winge, CF Wahlgren, KD Bilcha, M Nordenskjöld, F Taylan, ...
Journal of the European Academy of Dermatology and Venereology 30 (11), 1939 …, 2016
92016
Recent discoveries in monogenic disorders of childhood bone fragility
RE Mäkitie, AJ Kämpe, F Taylan, O Mäkitie
Current osteoporosis reports 15 (4), 303-310, 2017
82017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
H Wang, CG Salter, O Refai, H Hardy, KES Barwick, U Akpulat, ...
Brain 140 (11), 2838-2850, 2017
72017
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
AJ Kämpe, A Costantini, RE Mäkitie, N Jäntti, H Valta, M Mäyränpää, ...
Osteoporosis International 28 (10), 3023-3032, 2017
72017
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
M Kvarnung, F Taylan, D Nilsson, M Albåge, M Nordenskjöld, ...
Clinical genetics 89 (1), 99-103, 2016
72016
Pulmonary alveolar microlithiasis with homozygous c. 316G> C (p. G106R) mutation: a case report
IH Ozbudak, CI Bassorgun, G Ozbilim, G Luleci, A Sarper, A Erdogan, ...
Turk Patoloji Derg 28 (3), 282-5, 2012
72012
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
AJ Kämpe, A Costantini, Y Levy‐shraga, L Zeitlin, P Roschger, F Taylan, ...
Journal of Bone and Mineral Research 32 (12), 2394-2404, 2017
62017
Two novel mutations in XYLT2 cause spondyloocular syndrome
F Taylan, Z Yavaş Abalı, N Jäntti, N Güneş, F Darendeliler, F Baş, ...
American Journal of Medical Genetics Part A 173 (12), 3195-3200, 2017
62017
Meiotic recombinations within major histocompatibility complex of human embryos
F Taylan, E Altiok
Immunogenetics 64 (11), 839-844, 2012
62012
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
A Costantini, S Tournis, A Kämpe, NU Ain, F Taylan, A Doulgeraki, ...
Calcified tissue international, 1-6, 2018
52018
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
A Hammarsjö, Z Wang, R Vaz, F Taylan, M Sedghi, KM Girisha, ...
Scientific reports 7 (1), 15585, 2017
52017
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, BM Anderlid, H Malmgren, ...
Clinical genetics 94 (6), 528-537, 2018
22018
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Articles 1–20