Fulya Taylan

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

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
Journal article: 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
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
Journal article: 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
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
Journal article: 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
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
Journal article: 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
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
Journal article: CLINICAL GENETICS. 2018;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
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: 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: 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: 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
Journal article: 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
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
Journal article: BONE ABSTRACTS. 2016

CRTAP variants in early-onset osteoporosis and recurrent fractures

Costantini A; Vuorimies I; Makitie R; Kampe A; Taylan F; 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; 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
Journal article: 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
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
Visa fler

Alla övriga publikationer

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
Preprint: 2023;bioRxiv

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(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: 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
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: 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: 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
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;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: 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):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: 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
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;27:1143

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;27:1272

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;27:123-124

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: 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
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
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: 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
Visa fler

Anställningar

Forskningsspecialist, Molekylär medicin och kirurgi, Karolinska Institutet, 2022-

Examina och utbildning

Docent, Medicinsk genetik, Karolinska Institutet, 2022

Handledare

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

Artiklar

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Anställningar

Examina och utbildning

Handledare

Nyheter från KI

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