Fulya Taylan

About me
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About me

Fulya Taylan is a docent in medical genetics at Karolinska Institutet in Stockholm, Sweden. She also serves as
the coordinator for the precision medicine and diagnostics research area in
the Data-driven Life Science (DDLS) initiative. Additionally, she chairs the
working group for harmonization of bioinformatics pipelines for somatic
variant analysis in the Genomic Medicine Sweden (GMS) initiative, coordinates
the diagnostic working group in the Undiagnosed Disease Network International
(UDNI), and the Childhood Cancer Predisposition (ChiCaP) project within the
GMS initiative.
Her research focuses on understanding the cancer predisposition to childhood cancers and identifying novel disease-causing genes in patients with rare
undiagnosed diseases. Prior to her work at Karolinska Institutet, Taylan was
a postdoctoral researcher at SciLifeLab in Stockholm. There, she analyzed
exome sequencing data and collaborated on several projects to identify novel
disease-causing genes. Taylan earned her Doctor of Philosophy in Molecular
Biology and Genetics from Boğaziçi University in Istanbul, Turkey.

Research

Her research covers various areas in the medical field. She focuses on the genetic predisposition to cancer in children, aiming to understand why some children are more susceptible to developing cancer. Additionally, she tackles undiagnosed diseases, working to find the genetic causes of these conditions that often leave patients and their families without answers. Furthermore, her work investigates molecular mechanisms behind various rare conditions, aiming to provide a deeper understanding of how these diseases operate at a cellular level.

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

Journal article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2024;:e63812

Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.

Maya-González C; Delgado-Vega AM; Taylan F; Lagerstedt Robinson K; Hansson L; Pal N; Fagman H; Puls F; Wessman S; Stenman J; Georgantzi K; Fransson S; Díaz De Ståhl T; Ek T; Palmer R; Tesi B; Kogner P; Martinsson T; Nordgren A
Journal article: 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
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: THE 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; Díaz de Ståhl T; Orrsjö 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; Norén-Nyström U; Borssén M; Fili M; Stålhammar G; Herold N; Tettamanti G; Maya-Gonzalez C; Arvidsson L; Rosén A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Nordling M; Palmebäck P; Kogner P; Smoler GK; Lähteenmäki P; Fransson 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; Ståhle 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; Diaz De Ståhl T; Tesi B; Orsmark Pietras C; Arvidsson L; Taylan F; Fransson S; Vogt H; Poluha A; Pradhananga S; Hellberg M; Lagerstedt-Robinson K; Raj Somarajan P; Samuelsson S; Orrsjö S; Maqbool K; Henning K; Strid T; Ek T; Fagman H; Olsson Bontell T; Martinsson T; Puls F; Kogner P; Wirta V; Pronk CJ; Wille J; Rosenquist R; Nistér M; Mertens F; Sabel M; Norén-Nyström U; Grillner P; Nordgren A; Ljungman G; Sandgren J; Gisselsson D; Genomic Medicine Sweden Childhood Cancer Working G
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-González C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergårdh R; Díaz De Ståhl T; Höybye 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; Mäkitie 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; Jäntti 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.

Pontén 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.

Hammarsjö 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; Korņejeva 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 ALLERGY AND CLINICAL IMMUNOLOGY. 2021;147(5):1742-1752

Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes.

Sahlén P; Spalinskas R; Asad S; Mahapatra KD; Höjer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Ståhle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjöld M; Taylan F; Bradley M; Tapia-Páez I
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; Mäkitie O; Naz S
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; Mäkitie 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; Akçören Z; Utine GE; Chiu T; Shimizu K; Hammarsjö 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; Åström E; Nordgren A; Taylan F; Dahllöf G
Article: LEUKEMIA & LYMPHOMA. 2020;61(3):604-613

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.

Ivanov Öfverholm I; Zachariadis V; Taylan F; Marincevic-Zuniga Y; Tran AN; Saft L; Nilsson D; Syvänen A-C; Lönnerholm G; Harila-Saari A; Nordenskjöld 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.

Järviaho T; Bang B; Zachariadis V; Taylan F; Moilanen J; Möttönen M; Smith CIE; Harila-Saari A; Niinimäki 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; Annerén 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; Hammarsjö A; Marsk E; Nordgren A; Nordenskjöld 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; Nordenskjöld M; Syk Lundberg E; 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; Nordenskjöld 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; Clément A; Parry DA; Davids M; Taylan F; Sharma P; Turgeon CT; Blanco-Sánchez 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; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A; Hammarsjö 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 JA; 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; Kämpe A; Ul Ain N; Taylan F; Doulgeraki A; Mäkitie O
Article: JOURNAL OF HUMAN GENETICS. 2018;63(8):923-926

A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

Costantini A; Krallis PΝ; Kämpe A; Karavitakis EM; Taylan F; Mäkitie 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; Kämpe A; Mäkitie RE; Pettersson M; Männikkö M; Jiao H; Taylan F; Lindstrand A; Mäkitie O
Article: PLOS ONE. 2018;13(3):e0193928

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

Tran AN; Taylan F; Zachariadis V; Ivanov Öfverholm I; Lindstrand A; Vezzi F; Lötstedt B; Nordenskjöld 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; Yavaş Abalı Z; Jäntti N; Güneş N; Darendeliler F; Baş F; Poyrazoğlu Ş; Tamçelik N; Tüysüz B; Mäkitie 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.

Kämpe AJ; Costantini A; Levy-Shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hövel M; Jiao H; Klaushofer K; Grasemann C; Mäkitie O
Article: SCIENTIFIC REPORTS. 2017;7(1):15585

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö 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; Stüve 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.

Kämpe AJ; Costantini A; Mäkitie RE; Jäntti N; Valta H; Mäyränpää M; Kröger H; Pekkinen M; Taylan F; Jiao H; Mäkitie 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; Nordenskjöld 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; Björck 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; Molecular Basis of Periodontal EDS Consortium; 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; Nordenskjöld 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; Héon E; Şıklar Z; Berberoğlu M; Kämpe A; Kıykım E; Grigelioniene G; Tüysüz B; Mäkitie 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; Albåge M; Nordenskjöld M; Anderlid BM; Nordgren A; Syk Lundberg E
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 D; 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; Dworzyński 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; Lovrečić L; Palandačić 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; González-Lamuño 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; Nordenskjöld M; Mäkitie 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; Ilıkkan 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.

Özbudak IH; Başsorgun CI; Ozbılım G; Lülecı G; Sarper A; Erdoğan 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

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
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
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
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;31:389

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;31:524-525

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;31:512-513

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
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: 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
Conference publication: 2022;00:1-9

Ecosystem Models Based on Artificial Intelligence

Strannegård C; Engsner N; Eisfeldt J; Endler J; Hansson A; Lindgren R; Mostad P; Olsson S; Perini I; Reese H; Taylan F; Ulfsbäcker 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.

Järviaho T; Zachariadis V; Tesi B; Chiang S; Bryceson YT; Möttönen M; Niinimäki 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; Öfverholm II; Tran A-N; 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;27:123-124

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. 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;27:1519-1520

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: 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
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
Review: CURRENT OSTEOPOROSIS REPORTS. 2017;15(4):303-310

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.

Mäkitie RE; Kämpe AJ; Taylan F; Mäkitie 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; Mäkitie R; Mäyränpää MK; Becker J; Pekkinen M; Valta H; Netzer C; Kämpe A; Taylan F; Jiao H; Mäkitie 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; Mäkitie 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; Nordenskjöld 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

Swedish Childhood Cancer Fund

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

Supervisor

Benedicte Bang
Alice Costantini
Dominyka Batkovskyte
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases
Carolina Maya Gonzalez

About me

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