Fulya Taylan

Fulya Taylan

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Fulya Taylan

Fulya Taylan

Publications by authors named "Fulya Taylan"

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Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Clin Genet 2019 Aug 9;96(2):118-125. Epub 2019 May 9.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13543
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http://dx.doi.org/10.1111/cge.13543DOI Listing
August 2019

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.

Br J Haematol 2019 Apr 13;185(2):354-357. Epub 2018 Jul 13.

Department of Molecular Medicine and Surgery, Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1111/bjh.15494DOI Listing
April 2019

Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR.

Clin Chem 2019 Feb 5;65(2):345-347. Epub 2018 Dec 5.

Department of Molecular Medicine and Surgery Center for Molecular Medicine Karolinska Institutet Stockholm, Sweden.

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http://dx.doi.org/10.1373/clinchem.2018.293548DOI Listing
February 2019

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.

Calcif Tissue Int 2018 09 23;103(3):353-358. Epub 2018 Mar 23.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00223-018-0414-4DOI Listing
September 2018

A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

J Hum Genet 2018 Aug 8;63(8):923-926. Epub 2018 Jun 8.

Department of Bone and Mineral Metabolism, Institute of Child Health, "Aghia Sophia" Children's Hospital, Athens, Greece.

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http://dx.doi.org/10.1038/s10038-018-0472-5DOI Listing
August 2018

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.

Front Endocrinol (Lausanne) 2018 10;9:380. Epub 2018 Jul 10.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.3389/fendo.2018.00380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048219PMC
July 2018

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

J Bone Miner Res 2017 Dec 6;32(12):2394-2404. Epub 2017 Sep 6.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/jbmr.3233DOI Listing
December 2017

Two novel mutations in XYLT2 cause spondyloocular syndrome.

Am J Med Genet A 2017 Dec 8;173(12):3195-3200. Epub 2017 Sep 8.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38470DOI Listing
December 2017

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.

Curr Osteoporos Rep 2017 08;15(4):303-310

Folkhälsan Institute of Genetics, University of Helsinki, P. O. Box 63, FIN-00014, Helsinki, Finland.

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http://dx.doi.org/10.1007/s11914-017-0388-6DOI Listing
August 2017

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.

Pediatr Dermatol 2017 May 10;34(3):e140-e141. Epub 2017 Mar 10.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.

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http://dx.doi.org/10.1111/pde.13095DOI Listing
May 2017

CRTAP variants in early-onset osteoporosis and recurrent fractures.

Am J Med Genet A 2017 03 30;173(3):806-808. Epub 2016 Nov 30.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38065DOI Listing
March 2017

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

J Bone Miner Res 2016 08 4;31(8):1577-85. Epub 2016 Apr 4.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/jbmr.2834DOI Listing
August 2016

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

J Allergy Clin Immunol 2015 Aug 26;136(2):507-9.e19. Epub 2015 Mar 26.

Department of Molecular Medicine & Surgery and the Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Dermatology Unit, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S00916749150023
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http://dx.doi.org/10.1016/j.jaci.2015.02.010DOI Listing
August 2015

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report.

Turk Patoloji Derg 2012 ;28(3):282-5

Department of Pathology, Akdeniz University, Faculty of Medicine, Antalya, Turkey.

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http://dx.doi.org/10.5146/tjpath.2012.01138DOI Listing
May 2013

Meiotic recombinations within major histocompatibility complex of human embryos.

Immunogenetics 2012 Nov 15;64(11):839-44. Epub 2012 Aug 15.

Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00251-012-0644-yDOI Listing
November 2012