| 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 | 121 | 2016 |
| 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, 1-18, 2014 | 120 | 2014 |
| 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 | 83 | 2019 |
| 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 | 62 | 2014 |
| 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 | 61 | 2018 |
| 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 | 53 | 2012 |
| 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 | 50 | 2016 |
| 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 | 45 | 2016 |
| 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, 3023-3032, 2017 | 44 | 2017 |
| 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 | 41 | 2017 |
| Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis F Taylan, D Nilsson, S Asad, A Lieden, CF Wahlgren, MCG Winge, ... The Journal of allergy and clinical immunology 136 (2), 507-9. e19, 2015 | 39 | 2015 |
| 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 | 33 | 2018 |
| 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 | 30 | 2017 |
| 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 | 29 | 2017 |
| 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, BM Anderlid, ... Journal of Human Genetics 66 (10), 995-1008, 2021 | 26 | 2021 |
| 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 | 26 | 2018 |
| 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 | 26 | 2017 |
| 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 | 25 | 2016 |
| 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 | 21 | 2018 |
| 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 | 20 | 2016 |
