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: 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: 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: 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

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
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
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: 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
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases
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

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