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Fulya Taylan
Fulya Taylan
Laboratory coordinator, Karolinska University Hospital
Verified email at ki.se - Homepage
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Cited by
Cited by
Year
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, TW Yu, KC Flannery, ...
Genome biology 15 (3), 1-18, 2014
1072014
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
852016
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
632014
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
G Grigelioniene, HI Suzuki, F Taylan, F Mirzamohammadi, ...
Nature medicine 25 (4), 583-590, 2019
512019
A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation
CR Ferreira, ZJ Xia, A Clément, DA Parry, M Davids, F Taylan, P Sharma, ...
The American Journal of Human Genetics 103 (4), 553-567, 2018
512018
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
472012
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
412016
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
332016
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
292017
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
282017
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
282015
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), 1-13, 2017
252017
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
242017
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
242016
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
212018
Two novel mutations in XYLT2 cause spondyloocular syndrome
F Taylan, Z Yavaş Abalı, N Jaentti, N Güneş, F Darendeliler, F Baş, ...
American Journal of Medical Genetics Part A 173 (12), 3195-3200, 2017
202017
A novel frameshift deletion in PLS3 causing severe primary osteoporosis
A Costantini, PΝ Krallis, A Kämpe, EM Karavitakis, F Taylan, O Mäkitie, ...
Journal of human genetics 63 (8), 923-926, 2018
162018
Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility
A Costantini, S Skarp, A Kämpe, RE Mäkitie, M Pettersson, M Männikkö, ...
Frontiers in Endocrinology 9, 380, 2018
152018
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
142017
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
142016
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