Fulya Taylan

About me
Publications
Grants
CV
Public outreach and news

Teaching

- Course director of 5MT010 Molecular Genetics and Genomics in the master's program of molecular techniques in life science
- Course organizer - 2981 Rare Disease Genomics - Doctoral course

Articles

Article: AMERICAN JOURNAL OF CASE REPORTS. 2024;25:e945715
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications
Maya-Gonzalez C; De Stahl TD; Wessman S; Taylan F; Tesi B; Lagerstedt-Robinson K; Tettamanti G; Dukic M; Poluha A; Ljungman G; Nordgren A
Journal article: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2024;144(12):s272
254 Genetics and functional studies of NOX4 for Psoriatic Arthritis Mutilans
Wang S; Taylan F; Ståhle M; Tapia-Páez I
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2024;194(12):e63812
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature
Maya-Gonzalez C; Delgado-Vega AM; Taylan F; Robinson KL; Hansson L; Pal N; Fagman H; Puls F; Wessman S; Stenman J; Georgantzi K; Fransson S; De Stahl TD; Ek T; Palmer R; Tesi B; Kogner P; Martinsson T; Nordgren A
Article: NEUROLOGY. 2024;103(8):e209883
Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy
Maya-Gonzalez C; Tettamanti G; Taylan F; Nordenvall AS; Sejersen T; Nordgren A
Article: HEALTH INFORMATICS JOURNAL. 2024;30(4):14604582241290725
Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis
Brahimllari O; Eloranta S; Georgii-Hemming P; Haider Z; Koch S; Krstic A; Skarp FP; Rosenquist R; Smedby KE; Taylan F; Thorvaldsdottir B; Wirta V; Wasterlid T; Boman M
Article: JID INNOVATIONS. 2024;4(4):100284
Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population.
Wang S; Elmgren JK; Eisfeldt J; Asad S; Ek M; Bilcha K; Befekadu A; Wahlgren C-F; Nordenskjöld M; Taylan F; Tapia-Paez I; Bradley M
Article: LANCET REGIONAL HEALTH-EUROPE. 2024;39:100881
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors - a nationwide, prospective Swedish study
Tesi B; Robinson KL; Abel F; Stahl TDD; Orrsjoe S; Poluha A; Hellberg M; Wessman S; Samuelsson S; Frisk T; Vogt H; Henning K; Sabel M; Ek T; Pal N; Nyman P; Giraud G; Wille J; Pronk CJ; Noren-Nystroem U; Borssen M; Fili M; Stalhammar G; Herold N; Tettamanti G; Maya-Gonzalez C; Arvidsson L; Rosen A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Nordling M; Palmebaeck P; Kogner P; Smoler GK; Laehteenmaeki P; Fransso S; Martinsson T; Shamik A; Mertens F; Rosenquist R; Wirta V; Tham E; Grillner P; Sandgren J; Ljungman G; Gisselsson D; Taylan F; Nordgren A
Article: EMBO MOLECULAR MEDICINE. 2024;16(3):596-615
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans
Wang S; Nikamo P; Laasonen L; Gudbjornsson B; Ejstrup L; Iversen L; Lindqvist U; Alm JJ; Eisfeldt J; Zheng X; Catrina S-B; Taylan F; Vaz R; Stahle M; Tapia-Paez I
Article: JCO PRECISION ONCOLOGY. 2023;7:e2300039
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
Wadensten E; Wessman S; Abel F; De Stahl TD; Tesi B; Pietras CO; Arvidsson L; Taylan F; Fransson S; Vogt H; Poluha A; Pradhananga S; Hellberg M; Lagerstedt-Robinson K; Raj Somarajan P; Samuelsson S; Orrsjo S; Maqbool K; Henning K; Strid T; Ek T; Fagman H; Bontell TO; Martinsson T; Puls F; Kogner P; Wirta V; Pronk CJ; Wille J; Rosenquist R; Nister M; Mertens F; Sabel M; Noren-Nystrom U; Grillner P; Nordgren A; Ljungman G; Sandgren J; Gisselsson D
Article: FRONTIERS IN MEDICINE. 2023;10:1172565
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
Maya-Gonzalez C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergardh R; De Stahl TD; Hoybye C; Tettamanti G; Delgado-Vega AM; Skarin Nordenvall A; Nordgren A
Article: JBMR PLUS. 2022;6(8):e10660
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass
Muurinen M; Taylan F; Tournis S; Eisfeldt J; Balanika A; Vastardis H; Ala-Mello S; Makitie O; Costantini A
Article: BLOOD ADVANCES. 2022;6(7):2275-2289
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins
Bang B; Eisfeldt J; Barbany G; Harila-Saari A; Heyman M; Zachariadis V; Taylan F; Nordgren A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1
Ponten E; Frisk S; Taylan F; Vaz R; Wessman S; de Kock L; Pal N; Foulkes WD; Lagerstedt-Robinson K; Nordgren A
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2021;297(6):101355
A missense mutation converts the Na⁺,K⁺-ATPase into an ion channel and causes therapy-resistant epilepsy
Ygberg S; Akkuratov EE; Howard RJ; Taylan F; Jans DC; Mahato DR; Katz A; Kinoshita PF; Portal B; Nennesmo I; Lindskog M; Karlish SJD; Andersson M; Lindstrand A; Brismar H; Aperia A
Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Article: JOURNAL OF MEDICAL GENETICS. 2021;58(5):351-356
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
Ain NU; Baroncelli M; Costantini A; Ishaq T; Taylan F; Nilsson O; Makitie O; Naz S
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2021;147(5):1742-1752
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes
Sahlen P; Spalinskas R; Asad S; Das Mahapatra K; Hojer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Stahle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjold M; Taylan F; Bradley M; Tapia-Paez I
Article: FRONTIERS IN GENETICS. 2021;12:680838
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia
Costantini A; Valta H; Suomi A-M; Makitie O; Taylan F
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Stevenson RE; Ha T; Cavalcanti DP; Miyahara H; Skinner SA; Aguirre MA; Akcoeren Z; Utine GE; Chiu T; Shimizu K; Hammarsjoe A; Boduroglu K; Moore HW; Louie RJ; Arts P; Merrihew AN; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):80
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
Andersson K; Malmgren B; Astrom E; Nordgren A; Taylan F; Dahllof G
Article: LEUKEMIA & LYMPHOMA. 2020;61(3):604-613
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
Ivanov Ofverholm I; Zachariadis V; Taylan F; Marincevic-Zuniga Y; Anh NT; Saft L; Nilsson D; Syvanen A-C; Lonnerholm G; Harila-Saari A; Nordenskjold M; Heyman M; Nordgren A; Nordlund J; Barbany G
Article: BLOOD ADVANCES. 2019;3(18):2722-2731
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6
Jarviaho T; Bang B; Zachariadis V; Taylan F; Moilanen J; Mottonen M; Smith CIE; Harila-Saari A; Niinimaki R; Nordgren A
Article: CLINICAL GENETICS. 2019;96(2):118-125
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
Frisk S; Taylan F; Blaszczyk I; Nennesmo I; Anneren G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Article: NATURE MEDICINE. 2019;25(4):583-590
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene G; Suzuki HI; Taylan F; Mirzamohammadi F; Borochowitz ZU; Ayturk UM; Tzur S; Horemuzova E; Lindstrand A; Weis MA; Grigelionis G; Hammarsjo A; Marsk E; Nordgren A; Nordenskjold M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
Article: FRONTIERS IN GENETICS. 2019;10:896
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
Kvarnung M; Shahsavani M; Taylan F; Moslem M; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B-M; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Article: CLINICAL GENETICS. 2018;94(6):528-537
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
Kvarnung M; Taylan F; Nilsson D; Anderlid B-M; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjoeld M; Nordgren A; Lundberg ES
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2018;103(4):553-567
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Ferreira CR; Xia Z-J; Clement A; Parry DA; Davids M; Taylan F; Sharma P; Turgeon CT; Blanco-Sanchez B; Ng BG; Logan CV; Wolfe LA; Solomon BD; Cho MT; Douglas G; Carvalho DR; Bratke H; Haug MG; Phillips JB; Wegner J; Tiemeyer M; Aoki K; Nordgren A; Hammarsjo A; Duker AL; Rohena L; Hove HB; Ek J; Adams D; Tifft CJ; Onyekweli T; Weixel T; Macnamara E; Radtke K; Powis Z; Earl D; Gabriel M; Russi AHS; Brick L; Kozenko M; Tham E; Raymond KM; Phillips JAIII; Tiller GE; Wilson WG; Hamid R; Malicdan MCV; Nishimura G; Grigelioniene G; Jackson A; Westerfield M; Bober MB; Gahl WA; Freeze HH
Article: CALCIFIED TISSUE INTERNATIONAL. 2018;103(3):353-358
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
Costantini A; Tournis S; Kampe A; Ul Ain N; Taylan F; Doulgeraki A; Makitie O
Article: JOURNAL OF HUMAN GENETICS. 2018;63(8):923-926
A novel frameshift deletion in PLS3 causing severe primary osteoporosis
Costantini A; Krallis PN; Kampe A; Karavitakis EM; Taylan F; Makitie O; Doulgeraki A
Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Costantini A; Skarp S; Kampe A; Makitie RE; Pettersson M; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
Article: PLOS ONE. 2018;13(3):e0193928
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing
Anh NT; Taylan F; Zachariadis V; Ofverholm II; Lindstrand A; Vezzi F; Lotstedt B; Nordenskjold M; Nordgren A; Nilsson D; Barbany G
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(12):3195-3200
Two novel mutations in XYLT2 cause spondyloocular syndrome
Taylan F; Abali ZY; Jaentti N; Gunes N; Darendeliler F; Bas F; Poyrazoglu S; Tamcelik N; Tuysuz B; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(12):2394-2404
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
Kampe AJ; Costantini A; Levy-shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hoevel M; Jiao H; Klaushofer K; Grasemann C; Makitie O
Article: SCIENTIFIC REPORTS. 2017;7(1):15585
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjo A; Wang Z; Vaz R; Taylan F; Sedghi M; Girisha KM; Chitayat D; Neethukrishna K; Shannon P; Godoy R; Gowrishankar K; Lindstrand A; Nasiri J; Baktashian M; Newton PT; Guo L; Hofmeister W; Pettersson M; Chagin AS; Nishimura G; Yan L; Matsumoto N; Nordgren A; Miyake N; Grigelioniene G; Ikegawa S
Article: BRAIN. 2017;140(11):2838-2850
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang H; Salter CG; Refai O; Hardy H; Barwick KES; Akpulat U; Kvarnung M; Chioza BA; Harlalka G; Taylan F; Sejersen T; Wright J; Zimmerman HH; Karakaya M; Stueve B; Weis J; Schara U; Russell MA; Abdul-Rahman OA; Chilton J; Blakely RD; Baple EL; Cirak S; Crosby AH
Article: OSTEOPOROSIS INTERNATIONAL. 2017;28(10):3023-3032
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
Kampe AJ; Costantini A; Makitie RE; Jantti N; Valta H; Mayranpaa M; Kroger H; Pekkinen M; Taylan F; Jiao H; Makitie O
Article: PEDIATRIC DERMATOLOGY. 2017;34(3):e140-e141
Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis
Fernandez K; Asad S; Taylan F; Wahlgren C-F; Bilcha KD; Nordenskjold M; Winge MCG; Bradley M
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(5):1005-1014
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Kapferer-Seebacher I; Pepin M; Werner R; Aitman TJ; Nordgren A; Stoiber H; Thielens N; Gaboriaud C; Amberger A; Schossig A; Gruber R; Giunta C; Bamshad M; Bjorck E; Chen C; Chitayat D; Dorschner M; Schmitt-Egenolf M; Hale CJ; Hanna D; Hennies HC; Heiss-Kisielewsky I; Lindstrand A; Lundberg P; Mitchell AL; Nickerson DA; Reinstein E; Rohrbach M; Romani N; Schmuth M; Silver R; Taylan F; Vandersteen A; Vandrovcova J; Weerakkody R; Yang M; Pope FM; Byers PH; Zschocke J
Article: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. 2016;30(11):1939-1941
The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians
Asad S; Winge MCG; Wahlgren C-F; Bilcha KD; Nordenskjold M; Taylan F; Bradley M
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2016;31(8):1577-1585
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Taylan F; Costantini A; Coles N; Pekkinen M; Heon E; Siklar Z; Berberoglu M; Kampe A; Kiykim E; Grigelioniene G; Tuysuz B; Makitie O
Article: CLINICAL GENETICS. 2016;89(1):99-103
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Kvarnung M; Taylan F; Nilsson D; Albage M; Nordenskjold M; Anderlid BM; Nordgren A; Lundberg ES
Article: GENOME BIOLOGY. 2014;15(3):R53
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein CA; Beggs AH; Homer N; Merriman B; Yu TW; Flannery KC; DeChene ET; Towne MC; Savage SK; Price EN; Holm IA; Luquette LJ; Lyon E; Majzoub J; Neupert P; McCallie DJ; Szolovits P; Willard HF; Mendelsohn NJ; Temme R; Finkel RS; Yum SW; Medne L; Sunyaev SR; Adzhubey I; Cassa CA; de Bakker PIW; Duzkale H; Dworzynski P; Fairbrother W; Francioli L; Funke BH; Giovanni MA; Handsaker RE; Lage K; Lebo MS; Lek M; Leshchiner I; MacArthur DG; McLaughlin HM; Murray MF; Pers TH; Polak PP; Raychaudhuri S; Rehm HL; Soemedi R; Stitziel NO; Vestecka S; Supper J; Gugenmus C; Klocke B; Hahn A; Schubach M; Menzel M; Biskup S; Freisinger P; Deng M; Braun M; Perner S; Smith RJH; Andorf JL; Huang J; Ryckman K; Sheffield VC; Stone EM; Bair T; Black-Ziegelbein EA; Braun TA; Darbro B; DeLuca AP; Kolbe DL; Scheetz TE; Shearer AE; Sompallae R; Wang K; Bassuk AG; Edens E; Mathews K; Moore SA; Shchelochkov OA; Trapane P; Bossler A; Campbell CA; Heusel JW; Kwitek A; Maga T; Panzer K; Wassink T; Van Daele D; Azaiez H; Booth K; Meyer N; Segal MM; Williams MS; Tromp G; White P; Corsmeier D; Fitzgerald-Butt S; Herman G; Lamb-Thrush D; McBride KL; Newsom D; Pierson CR; Rakowsky AT; Maver A; Lovrecic L; Palandacic A; Peterlin B; Torkamani A; Wedell A; Huss M; Alexeyenko A; Lindvall JM; Magnusson M; Nilsson D; Stranneheim H; Taylan F; Gilissen C; Hoischen A; van Bon B; Yntema H; Nelen M; Zhang W; Sager J; Zhang L; Blair K; Kural D; Cariaso M; Lennon GG; Javed A; Agrawal S; Ng PC; Sandhu KS; Krishna S; Veeramachaneni V; Isakov O; Halperin E; Friedman E; Shomron N; Glusman G; Roach JC; Caballero J; Cox HC; Mauldin D; Ament SA; Rowen L; Richards DR; San Lucas FA; Gonzalez-Garay ML; Caskey CT; Bai Y; Huang Y; Fang F; Zhang Y; Wang Z; Barrera J; Garcia-Lobo JM; Gonzalez-Lamuno D; Llorca J; Rodriguez MC; Varela I; Reese MG; De la Vega FM; Kiruluta E; Cargill M; Hart RK; Sorenson JM; Lyon GJ; Stevenson DA; Bray BE; Moore BM; Eilbeck K; Yandell M; Zhao H; Hou L; Chen X; Yan X; Chen M; Li C; Yang C; Gunel M; Li P; Kong Y; Alexander AC; Albertyn ZI; Boycott KM; Bulman DE; Gordon PMK; Innes AM; Knoppers BM; Majewski J; Marshall CR; Parboosingh JS; Sawyer SL; Samuels ME; Schwartzentruber J; Kohane IS; Margulies DM
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
Article: IMMUNOGENETICS. 2012;64(11):839-844
Meiotic recombinations within major histocompatibility complex of human embryos
Taylan F; Altiok E
Article: CLINICAL IMMUNOLOGY. 2012;145(1):77-81
A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset
Altiok E; Aksoy F; Perk Y; Taylan F; Kim PW; Ilikkan B; Asal GT; Goldbach-Mansky R; Sanal O
Article: TURK PATOLOJI DERGISI. 2012;28(3):282-285
Pulmonary Alveolar Microlithiasis with Homozygous c.316G>C (p.G106R) Mutation: A Case Report
Ozbudak IH; Bassorgun CI; Ozbilim G; Luleci G; Sarper A; Erdogan A; Taylan F; Altiok E
Article: EMERGING INFECTIOUS DISEASES. 2008;14(3):491-492
Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006
Altiok E; Taylan F; Yenen OS; Demirkeser G; Bozaci M; Onel D; Akcadag B; Iyisan AS; Ciblak M; Bozkaya E; Yuksel S; Badur S
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All other publications

Letter: NATURE MEDICINE. 2025;:1-3
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
Kampe A; Gudmundsson S; Walsh CP; Lindblad-Toh K; Johansson A; Clareborn A; Ameur A; Edsjo A; Fioretos T; Ehrencrona H; Eriksson D; Fall T; Franks PW; Gyllensten U; Haag M; Hagwall A; Johansson Soller M; Lehtio J; Lu Y; Magnusson PKE; Melen E; Melin B; Michaelsson K; Nordgren A; Nordlund J; Saal LH; Schwenk JM; Sikora P; Sundstrom J; Taylan F; Van Guelpen B; Wadelius M; Wedell A; Wirta V; Ostling P; Jacobsson B; Sjoblom T; Persson B; Rosenquist R; Lindstrand A; Lappalainen T
Report: NATURE GENETICS. 2024;56(11):2287-2294
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; Saether KB; Hoijer I; Akgun-Dogan O; Asano Y; Barakat TS; Batkovskyte D; Baynam G; Bodamer O; Chetruengchai W; Corcoran P; Couse M; Danis D; Demidov G; Dohi E; Erhardsson M; Fernandez-Luna L; Fujiwara T; Garg N; Giugliani R; Gonzaga-Jauregui C; Grigelioniene G; Groza T; Gunnarsson C; Hammarsjo A; Hammond CK; Ng OH; Hesketh S; Hettiarachchi D; Soller MJ; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Wiklander ML; Makay P; Maiga AB; Maya-Gonzalez C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjo S; Ottosson J; Ozbek U; Ozdemir O; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; de la Paz MP; Ramani A; Romero JA; Romero VI; Rosenquist R; Saw AM; Spencer M; Stattin E-L; Srichomthong C; Tapia-Paez I; Taruscio D; Taylor JP; Tkemaladze T; Tully I; Tumer Z; van Zelst-Stams WAG; Verloes A; Vasterviga E; Wang S; Yang R; Yamamoto S; Yepez VA; Zhang Q; Shotelersuk V; Wiafe SA; Alanay Y; Botto LD; Kirmani S; Lumaka A; Palmer EE; Puri RD; Wirta V; Lindstrand A; Buske OJ; Cederroth M; Nordgren A
Review: NPJ GENOMIC MEDICINE. 2024;9(1):37
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Palmer EE; Cederroth H; Cederroth M; Delgado-Vega AM; Roberts N; Taylan F; Nordgren A; Botto LD
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:545-546
Occurrence of cancer in Marfan syndrome: report of two females with neuroblastoma and review of the literature
Gonzalez CM; Taylan F; Tesi B; Lagerstedt-Robinson K; Wessman S; Stenman J; Fagman H; Olsen TK; Georgantzi K; de Stahl TD; Ek T; Palmer R; Forsberg S; Martinsson T; Kogner P; Nordgren A
Conference publication: ACTA DERMATO-VENEREOLOGICA. 2024;104
GENETICS AND FUNCTIONAL STUDIES OF PSORIATIC ARTHRITIS MUTILANS
Wang S; Taylan F; Stahle M; Tapia-Paez I
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:52
Diagnostic yield and short-term clinical implications of nationwide germline whole genome sequencing in 280 children with solid tumors
Tesi B; Taylan F; Lagerstedt-Robinson K; Abel F; Hellberg M; de Stahl TD; Wessman S; Samuelsson S; Henning K; Frisk T; Sabel M; Vogt H; Nyman P; Giraud G; Wille J; Pronk CJ; Nystrom UN; Borssen M; Fili M; Stalhammar G; Herold N; Orrsjo S; Poluha A; Gonzalez CM; Arvidsson L; Rosen A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Shamikh A; Mertens F; Brandell RR; Tham E; Grillner P; Sandgren J; Ljungman G; Nord DG; Nordgren A
Review: ORPHANET JOURNAL OF RARE DISEASES. 2023;18(1):348
International Undiagnosed Diseases Programs (UDPs): components and outcomes
Curic E; Ewans L; Pysar R; Taylan F; Botto LD; Nordgren A; Gahl W; Palmer EE
Conference publication: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2023;143(9):b21
LB1728 Searching for new candidate genes associated with atopic dermatitis in Ethiopian families
Wang S; Elmgren J; Eisfeldt J; Asad S; Bilcha K; Befekadu A; Wahlgren C; Nordenskjold M; Taylan F; Tapia-Paez I; Bradley M
Preprint: BIORXIV. 2023
Rare coding variants in NOX4 link high superoxide levels to psoriatic arthritis mutilans
Wang S; Nikamo P; Laasonen L; Gudbjornsson B; Ejstrup L; Iversen L; Lindqvist U; Alm JJ; Eisfeldt J; Zheng X; Catrina S-B; Taylan F; Vaz R; Ståhle M; Tapia-Paez I
Conference publication: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2023;143(5):s140
813 Rare coding variants in NOX4 link high superoxide levels to psoriatic arthritis mutilans
Wang S; Nikamo P; Laasonen L; Gudbjornsson B; Eistrup L; Iversen L; Lindqvist U; Alm J; Eisfeldt J; Zheng X; Catrina S; Taylan F; Vaz R; Stahle M; Paez IT
Preprint: MEDRXIV. 2023
Seasonal variation exists in B-Cell Precursor Childhood Acute Lymphoblastic Leukemia diagnosis, but not in Acute Myeloid Leukemia, Brain Tumors or Solid Tumors – a Swedish population-based study
Bychkov G; Bang B; Engsner N; Heyman MM; Nordenvall AS; Tettamanti G; Herold N; Taylan F; Pontén E; Albert J; Jörnsten R; Strannegård C; Nordgren A
Conference publication: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2023;143(5):S140
Rare coding variants in NOX4 link high superoxide levels to psoriatic arthritis mutilans
Wang S; Nikamo P; Laasonen L; Gudbjornsson B; Eistrup L; Iversen L; Lindqvist U; Alm J; Eisfeldt J; Zheng X; Catrina S; Taylan F; Vaz R; Stahle M; Paez IT
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:524-525
Imprinting relaxation of an ovarian dysgerminoma in a patient with Prader-Willi syndrome
Gonzalez CM; Wessman S; Tesi B; Taylan F; McCluggage G; Kuchinskaya E; Poluha A; Holm S; Nargard R; de Stahl TD; Nord DG; Lagerstedt K; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:389
Genetic and functional studies of novel candidate genes for Psoriatic Arthritis Mutilans
Wang S; Nikamo P; Vaz R; Taylan F; Eisfeldt J; Zheng X; Laasonen L; Tapia-Paez I
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:512-513
A novel FLCN-related syndrome that leads to intellectual disability, developmental delay and immunodeficiency
Taylan F; Gonzalez CM; Khoshnood B; Campbell T; Bobeck J; Bryceson Y; Nordenskjold M; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
Parental mosaicism is underestimated in rare intellectual disability syndromes
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Conference publication: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2023;143(9):B21
Searching for new candidate genes associated with atopic dermatitis in Ethiopian families
Wang S; Elmgren J; Eisfeldt J; Asad S; Bilcha K; Befekadu A; Wahlgren C; Nordenskjold M; Taylan F; Tapia-Paez I; Bradley M
Corrigendum: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2023;152(1):307
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes (vol 147, pg 1742, 2021)
Sahlen P; Spalinskas R; Asad S; Mahapatra KD; Hojer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Stahle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjold M; Taylan F; Tapia-Paez I; Bradley M
Conference publication: ACTA DERMATO-VENEREOLOGICA. 2023;103:41
SEARCHING FOR NEW CANDIDATE GENES ASSOCIATED WITH ATOPIC DERMATITIS IN ETHIOPIANS
Sailan W; Julia E; Eisfeldt J; Asad S; Bilcha K; Befekadu A; Wahlgren C-F; Nordenskjold M; Taylan F; Tapia-Paez I; Bradley M
Conference publication: 2022 34TH WORKSHOP OF THE SWEDISH ARTIFICIAL INTELLIGENCE SOCIETY (SAIS 2022). 2022;:1-9
Ecosystem Models Based on Artificial Intelligence
Strannegard C; Engsner N; Eisfeldt J; Endler J; Hansson A; Lindgren R; Mostad P; Olsson S; Perini I; Reese H; Taylan F; Ulfsbacker S; Nordgren A
Conference publication: BONE REPORTS. 2022;16:101512
Mosaic deletions of known genes explain skeletal dysplasias with high and low bone mass
Muurinen M; Taylan F; Tournis T; Eisfeldt J; Balanika A; Vastardis H; Ala-Mello S; Mäkitie O; Costantini A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42
Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders
Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Miyahara H; Eriksson G; Ha T; Utine GE; Chiu T; Shimizu K; Hammarsjo A; Boduroglu K; Arts P; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254
Increased yield of genetic diagnoses in skeletal ciliopathies using massively parallel sequencing, structural variant and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Taylan F; Batkovskyte D; Anderlid B; Lin AE; Shimizu K; Beleza-Meireles A; Chung B; Voss U; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):462-463
Non-mosaic germline cancer hotspot mutation p. Ser1344Leu in the RNase IIIa domain of DICER1 causes a GLOW syndrome-like phenotype
Frisk SA; Ponten E; Lagerstedt-Robinson K; Vaz R; Taylan F; Nordgren A
Conference publication: 2019
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
G G; HI S; F T; F M; ZU B; UM A; S T; E H; A L; MA W; G G; A H; E M; A N; M N; DR E; ML W; G N; PA S; T K
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2019;185(2):354-357
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia
Jarviaho T; Zachariadis V; Tesi B; Chiang S; Bryceson YT; Mottonen M; Niinimaki R; Bang B; Rahikkala E; Taylan F; Uusimaa J; Harila-Saari A; Nordgren A
Letter: CLINICAL CHEMISTRY. 2019;65(2):345-347
Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR
Taylan F; Bang B; Ofverholm II; Anh-Nhi T; Heyman M; Barbany G; Zachariadis V; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1272
KIAA0753 mutations in skeletal ciliopathies: unveiling disease mechanisms
Vaz R; Hammarsjo A; Taylan F; Chitayat D; Grigelioniene G; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
Mosaic activating PIK3CA mutations during early embryonic development cause ectopic muscle development and upper limb overgrowth
Taylan F; Frisk S; Blaszczyk I; Nennesmo I; Anneren G; Stattin E; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1143
Absence of NFASC isoform NF186 causes an autosomal recessive ataxia syndrome
Kvarnung M; Shahsavani M; Taylan F; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:123-124
PLS3 deletions lead to severe spinal osteoporosis and disturbed bone matrix mineralization
Kampe AJ; Costantini A; Levy-shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hoevel M; Jiao H; Klaushofer K; Grasemann C; Makitie O
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:548-549
Germline translocation affecting ETV6 predisposes to childhood acute lymphoblastic leukemia (ALL)
Bang B; Jarviaho T; Zachariadis V; Taylan F; Niinimaki R; Moilanen J; Harila-Saari A; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:644-645
Back-tracing of leukemia clones in childhood B-cell progenitor acute lymphocytic leukemia using digital PCR
Taylan F; Zachariadis V; Bang B; Ofverholm I; Harila-Saari A; Heyman M; Tran A; Barbany G; Nordgren A
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2018;179(1):E33
Studies of keratinocyte-specific regulatory interactions by three-dimensional mapping with a focus on atopic dermatitis
Tapia-Paez I; Asad S; Taylan F; Spalinskas R; Anandashankar A; Nordenskjold M; Wahlgren CF; Sahlen P; Bradley M
Review: CURRENT OSTEOPOROSIS REPORTS. 2017;15(4):303-310
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility
Makitie RE; Kampe AJ; Taylan F; Makitie O
Conference publication: BONE ABSTRACTS. 2017
Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility
Costantini A; Skarp S; Kampe A; Pettersson M; Makitie R; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(3):806-808
CRTAP variants in early-onset osteoporosis and recurrent fractures
Costantini A; Vuorimies I; Makitie R; Mayranpaa MK; Becker J; Pekkinen M; Valta H; Netzer C; Kampe A; Taylan F; Jiao H; Makitie O
Review: HORMONE AND METABOLIC RESEARCH. 2016;48(11):745-754
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes
Taylan F; Makitie O
Conference publication: BONE ABSTRACTS. 2016
CRTAP variants in early-onset osteoporosis and recurrent fractures
Costantini A; Vuorimies I; Makitie R; Kampe A; Taylan F; Makitie O
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2015;136(2):507-9.e19
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis
Taylan F; Nilsson D; Asad S; Lieden A; Wahlgren C-F; Winge MCG; Bilcha KD; Nordenskjold M; Bradley M
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2014;170(6):E3
Exome sequencing among Ethiopian patients with atopic dermatitis
Taylan F; Asad S; Nilsson D; Lieden A; Winge MCG; Desaleign K; Wahlgren C-F; Nordenskjold M; Bradley M
Conference publication: HLA. 2011;77(5):483-484
Patterns of meiotic recombination at major histocompatibility complex in human embryos
Taylan F; Altiok E
Conference publication: FERTILITY AND STERILITY. 2008;90:s490
Higher pregnancy rates after PGD of monogenic disease combined with HLA typing: single center experience
Oral E; Citil I; Findikli N; Akinci H; Taylan F; Altiok E
Conference publication: HLA. 2006;67(6):553
Rapid HLA match from buccal cheek swabs increase the feasibility for screening transplantation donors
Altiok E; Taylan F; Yuksel S
Conference publication: ANNALS OF THE RHEUMATIC DISEASES. 2003;62:203-204
Influence of genetic factors in AA amyloidosis
Ozdogan H; Altiok E; Hatemi G; Taylan F; Tahir E
Figure / visualisation: CLINICAL GENETICS. 94(6)
Front Cover
Kvarnung M; Taylan F; Nilsson D; Anderlid B; Malmgren H; Lagerstedt‐Robinson K; Holmberg E; Burstedt M; Nordenskjöld M; Nordgren A; Lundberg ES
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Grants

American Society of Human Genetics’ Annual Meeting 2023
Barncancerfonden
1 January 2023 - 31 December 2023

Employments

Research Specialist, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-
Assistant Professor, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2016-2020
Postdoctoral Researcher, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2012-2016

Degrees and Education

Docent, Karolinska Institutet, 2022

Supervision

Benedicte Bang
Alice Costantini
Dominyka Batkovskyte
Carolina Maya Gonzalez
Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved, https://openarchive.ki.se/articles/thesis/Genetic_studies_of_rare_skeletal_disorders_to_solve_the_unsolved/26903353?file=48945721
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases

Teaching

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