Publications by authors named "Tugce B Balci"

16Publications

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.

Genet Med 2020 Aug 5;22(8):1391-1400. Epub 2020 May 5.

Centre for Computational Medicine, The Hospital For Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41436-020-0812-7DOI Listing
August 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Tatton-Brown-Rahman syndrome: Six individuals with novel features.

Am J Med Genet A 2020 04 21;182(4):673-680. Epub 2020 Jan 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61475DOI Listing
April 2020

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Am J Med Genet C Semin Med Genet 2018 12;178(4):458-463

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.c.31662
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http://dx.doi.org/10.1002/ajmg.c.31662DOI Listing
December 2018

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 20;177(1):101-109. Epub 2017 Nov 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.b.32610
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http://dx.doi.org/10.1002/ajmg.b.32610DOI Listing
January 2018

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

Eur J Med Genet 2015 Jun-Jul;58(6-7):351-4. Epub 2015 May 13.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.04.006DOI Listing
March 2016

Mast cell development and function in the zebrafish.

Methods Mol Biol 2015 ;1220:29-57

IWK Health Centre, Dalhousie University, 9700, 5850/5980 University Avenue, Halifax, NS, Canada, B3K 6R8.

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http://dx.doi.org/10.1007/978-1-4939-1568-2_3DOI Listing
June 2015

A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis.

Br J Haematol 2014 Oct 2;167(1):48-61. Epub 2014 Jul 2.

Department of Pediatrics, IWK Health Centre, Halifax, NS, Canada; Department of Medical Genetics, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1111/bjh.12999DOI Listing
October 2014

Zebrafish xenografts as a tool for in vivo studies on human cancer.

Ann N Y Acad Sci 2012 Aug;1266:124-37

Department of Hematology and Oncology, University of Tübingen Medical Center II, Tübingen, Germany.

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http://www.researchgate.net/profile/Martina_Konantz/publicat
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http://doi.wiley.com/10.1111/j.1749-6632.2012.06575.x
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http://dx.doi.org/10.1111/j.1749-6632.2012.06575.xDOI Listing
August 2012

The zebrafish reveals dependence of the mast cell lineage on Notch signaling in vivo.

Blood 2012 Apr 24;119(15):3585-94. Epub 2012 Feb 24.

Izaak Walton Killam Health Centre, Dalhousie University, Halifax, NS, Canada.

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http://dx.doi.org/10.1182/blood-2011-10-385989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375148PMC
April 2012