Oana Caluseriu

Oana Caluseriu

UNVERIFIED PROFILE

Are you Oana Caluseriu?   Register this Author

Register author
Oana Caluseriu

Oana Caluseriu

Publications by authors named "Oana Caluseriu"

Are you Oana Caluseriu?   Register this Author

21Publications

620Reads

47Profile Views

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.

Am J Med Genet A 2018 11 23;176(11):2487-2493. Epub 2018 Sep 23.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40516DOI Listing
November 2018

Systemic Delivery of Morpholinos to Skip Multiple Exons in a Dog Model of Duchenne Muscular Dystrophy.

Methods Mol Biol 2017 ;1565:201-213

Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-4939-6817-6_17DOI Listing
February 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.

Pediatr Res 2017 01 28;81(1-2):177-191. Epub 2016 Sep 28.

Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/pr.2016.202DOI Listing
January 2017

Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies.

J Obstet Gynaecol Can 2016 07 6;38(7):619-26. Epub 2016 May 6.

Department of Medical Genetics, University of Calgary, Calgary AB; Department of Pediatrics, University of Calgary, Calgary AB; Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary AB.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jogc.2016.02.010DOI Listing
July 2016

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.

Int J Pediatr Endocrinol 2016 15;2016:12. Epub 2016 Jun 15.

Division of Endocrinology, Department of Pediatrics, University of Alberta, Edmonton Clinic Health Academy, 11405- 87th Ave., Edmonton, AB T6G 1C9 Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13633-016-0030-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908721PMC
June 2016

Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.

Neurol Genet 2016 Apr 22;2(2):e58. Epub 2016 Mar 22.

Department of Pediatrics (X.H., R.S., A.M.D., F.V.B.), Neuroscience and Mental Health Institute (F.V.B.), and Department of Medical Genetics (O.C., F.V.B.), University of Alberta, Edmonton, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830196PMC
April 2016

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet 2015 Jun 10;24(11):3038-49. Epub 2015 Feb 10.

Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424950PMC
June 2015

The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

Am J Med Genet A 2013 Nov 24;161A(11):2855-9. Epub 2013 Sep 24.

Department of Medical Genetics, University of Calgary, Calgary, AB, Canada; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36172DOI Listing
November 2013

Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.

Biol Psychiatry 2007 May 9;61(10):1135-40. Epub 2007 Jan 9.

Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2006.07.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3142270PMC
May 2007

Clinical features of 78 adults with 22q11 Deletion Syndrome.

Am J Med Genet A 2005 Nov;138(4):307-13

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127862PMC
November 2005

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

J Am Soc Nephrol 2002 Aug;13(8):2077-84

Divisions of Nephrology and Clinical and Metabolic Genetics, Program in Developmental Biology, Research Institute, and Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.asn.0000023431.16173.55DOI Listing
August 2002

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Hum Mol Genet 2002 May;11(11):1317-25

Division of Clinical and Metabolic Genetics and the Research Institute, Department of Paediatrics Hospital for Sick Children, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/11.11.1317DOI Listing
May 2002