Ozge Ceyhan-Birsoy

Ozge Ceyhan-Birsoy

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Ozge Ceyhan-Birsoy

Ozge Ceyhan-Birsoy

Publications by authors named "Ozge Ceyhan-Birsoy"

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22Publications

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Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.

Am J Hum Genet 2019 Jul 27;105(1):177-188. Epub 2019 Jun 27.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA 02139, USA; Department of Pathology, Brigham & Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612528PMC
July 2019

A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.

Breast Cancer Res Treat 2019 Jan 25;173(1):79-86. Epub 2018 Sep 25.

Departments of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.

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http://dx.doi.org/10.1007/s10549-018-4980-yDOI Listing
January 2019

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Am J Hum Genet 2019 Jan;104(1):76-93

Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323417PMC
January 2019

NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

Hum Mutat 2018 07 16;39(7):954-958. Epub 2018 May 16.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/humu.23535DOI Listing
July 2018

A curated gene list for reporting results of newborn genomic sequencing.

Genet Med 2017 07 12;19(7):809-818. Epub 2017 Jan 12.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5507765PMC
July 2017

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.

J Clin Neuromuscul Dis 2017 Mar;18(3):147-151

*Pediatric Neurology Unit, Hacettepe University School of Medicine, Ankara, Turkey; and †Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1097/CND.0000000000000132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436270PMC
March 2017

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Mol Genet Genomic Med 2016 Mar 16;4(2):143-51. Epub 2015 Dec 16.

Laboratory for Molecular MedicinePartners HealthCare Personalized MedicineCambridgeMassachusetts; Department of PathologyMassachusetts General Hospital and Harvard Medical SchoolBostonMassachusetts.

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http://dx.doi.org/10.1002/mgg3.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799872PMC
March 2016

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology 2013 Oct 23;81(14):1205-14. Epub 2013 Aug 23.

From the Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research (O.C.-B., P.B.A., K.S.-A., E.T.D., L.C.S., K.M., A.H.B.), and Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Physiology and Sarver Molecular Cardiovascular Research Program (C.H., H.G.), University of Arizona, Tucson; Center for Computational Molecular Biology and Department of Molecular and Cellular Biology and Biochemistry (R.S., W.G.F.), Brown University, Providence, RI; Department of Translational Medicine (N.V., J.L.), IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Departments of Pediatrics and Neurology and Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (P.B.S.), University of California, Los Angeles; Division of Human Genetics (N.S.), Department of Pediatrics, Rhode Island Hospital, Providence; Department of Pediatrics, Division of Pediatric Pathology (J.M.D.), and Department of Pathology and Laboratory Medicine (M.W.L), Medical College of Wisconsin, Milwaukee; Hasbro Children's Hospital (J.M.D.), and Center for Biomedical Engineering (W.G.F.), Brown University, Providence, RI.

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http://dx.doi.org/10.1212/WNL.0b013e3182a6ca62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795603PMC
October 2013