Evica Rajcan-Separovic

Evica Rajcan-Separovic

UNVERIFIED PROFILE

Are you Evica Rajcan-Separovic?   Register this Author

Register author
Evica Rajcan-Separovic

Evica Rajcan-Separovic

Publications by authors named "Evica Rajcan-Separovic"

Are you Evica Rajcan-Separovic?   Register this Author

39Publications

849Reads

42Profile Views

Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency.

J Clin Immunol 2019 Aug 24;39(6):616-619. Epub 2019 Jul 24.

Department of Pathology and Laboratory Medicine, British Columbia Children's and Women's Hospital, The University of British Columbia, 4480 Oak St, Vancouver, BC, V6H3N1, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00669-6DOI Listing
August 2019

Next generation sequencing in recurrent pregnancy loss-approaches and outcomes.

Eur J Med Genet 2019 Apr 13. Epub 2019 Apr 13.

Department of Pathology and Laboratory Medicine, University of British Columbia and, Child and Family Research Institute, 950 West 28th, Vancouver BC, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.04.001DOI Listing
April 2019

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

Eur J Med Genet 2019 Feb 13;62(2):103-108. Epub 2018 Jun 13.

Department of Pathology and Laboratory Medicine, UBC, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.06.010DOI Listing
February 2019

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.

Am J Med Genet A 2017 Jul 5;173(7):1782-1791. Epub 2017 May 5.

Department of Pathology, University of British Columbia (UBC), Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38247DOI Listing
July 2017

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

BMC Med Genet 2016 Nov 10;17(1):78. Epub 2016 Nov 10.

Department of Medical Genetics, Children's and Women's Health Center of BC and Children's and Women's Health Center of BC and Univeristy of British Columbia, Vancouver, BC, V6H 3N1, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-016-0340-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105257PMC
November 2016

Whole exome sequencing in recurrent early pregnancy loss.

Mol Hum Reprod 2016 05 28;22(5):364-72. Epub 2016 Jan 28.

Department of Pathology, BC Child and Family Research Institute (CFRI), University of British Columbia (UBC), Vancouver, BC, Canada

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/molehr/gaw008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4847612PMC
May 2016

Genomic characteristics of miscarriage copy number variants.

Mol Hum Reprod 2015 Aug 12;21(8):655-61. Epub 2015 Jun 12.

Department of Pathology and Laboratory Medicine, BC Child and Family Research Institute, University of British Columbia (UBC), Vancouver, BC V5Z 4H4, Canada

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/molehr/gav030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518138PMC
August 2015

The role of MAGT1 in genetic syndromes.

Magnes Res 2015 Jun;28(2):46-55

View Article

Download full-text PDF

Source
June 2015

Functional consequences of copy number variants in miscarriage.

Mol Cytogenet 2015 31;8. Epub 2015 Jan 31.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, V6T 2B5 Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-015-0109-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324423PMC
February 2015

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

BMC Med Genet 2014 Jul 16;15:82. Epub 2014 Jul 16.

Department of Pathology (Cytogenetics), BC Child and Family Research Institute, University of British Columbia (UBC), 950 West 28th, Room 3060, Vancouver, BC V5Z 4H4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-15-82DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107469PMC
July 2014

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability.

BMC Genomics 2013 Aug 10;14:544. Epub 2013 Aug 10.

Department of Pathology and Lab Medicine, BC Child and Family Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

View Article

Download full-text PDF

Source
http://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2
Publisher Site
http://dx.doi.org/10.1186/1471-2164-14-544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750877PMC
August 2013

Comparative genomic hybridization of Wilms' tumor.

Methods Mol Biol 2013 ;973:249-65

Division of Hematology/Oncology/BMT, Department of Pediatrics, British Columbia's Children's Hospital, University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-62703-281-0_16DOI Listing
July 2013

Chromosome microarrays in human reproduction.

Hum Reprod Update 2012 Sep-Oct;18(5):555-67. Epub 2012 Jun 2.

Department of Pathology and Laboratory Medicine (Cytogenetics), University of British Columbia, Children's and Women's Health Centre of BC and Child and Family Research Institute, Vancouver, BC, Canada V5Z 4H4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/humupd/dms023DOI Listing
June 2013

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Screening for submicroscopic chromosomal rearrangements in Wilms tumor using whole-genome microarrays.

Cancer Genet Cytogenet 2008 Apr;182(2):84-94

Division of Pediatric Hematology/Oncology/BMT, Department of Pediatrics, British Columbia Children's Hospital, 4480 Oak Street, Vancouver, BC V6R 3M9, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cancergencyto.2007.12.015DOI Listing
April 2008

Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3.

Am J Med Genet A 2008 Jan;146A(2):225-32

Department of Medical Genetics, Child and Family Research Institute, UBC, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32056DOI Listing
January 2008

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

Am J Med Genet A 2004 Sep;129A(3):254-60

Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30245DOI Listing
September 2004

Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice.

Genesis 2004 Feb;38(2):51-7

Doctorate Program in Medical Genetics, University of British Columbia, Vancouver, British Columbia, V5Z 4H4 Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/gene.20001
Publisher Site
http://dx.doi.org/10.1002/gene.20001DOI Listing
February 2004

Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions.

Am J Med Genet A 2003 Dec;123A(3):285-9

Department of Pathology and Laboratory Medicine, University of British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20228DOI Listing
December 2003

Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma.

Genes Chromosomes Cancer 2003 Aug;37(4):427-32

INSERM U-563, Department of Oncogenesis and Signaling in Hematopoietic Cells, Centre de Physiopathologie de Toulouse-Purpan, Toulouse, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/gcc.10232DOI Listing
August 2003

Loss of 1p and 7p in radiation-induced meningiomas identified by comparative genomic hybridization.

Cancer Genet Cytogenet 2003 Jul;144(1):6-11

Cytogenetics Laboratory, Department of Pathology, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0165-4608(02)00864-6DOI Listing
July 2003

Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocation.

Genesis 2003 Jul;36(3):134-41

Graduate Program in Neuroscience, Department of Medical Genetics, University of Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/gene.10205DOI Listing
July 2003

Molecular cytogenetics in reproductive pathology.

Methods Mol Biol 2002 ;204:299-307

Cytogenetics, Department of Pathology, Vancouver Hospital and Health Sciences Center, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1385/1-59259-300-3:299DOI Listing
March 2003

Interphase fluorescence in situ hybridization and DNA flow cytometry analysis of medulloblastomas with a normal karyotype.

Cancer Genet Cytogenet 2002 Feb;133(1):94-7

Department of Pathology, British Columbia's Children's Hospital, 4480 Oak Street, V6H 3V4, BC, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0165-4608(01)00558-1DOI Listing
February 2002