Publications by authors named "Emmanuelle Lemyre"

46Publications

Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly.

Pediatr Cardiol 2020 Feb 13;41(2):230-236. Epub 2019 Nov 13.

Department of Fetal and Pediatric Cardiology, Université de Montréal - Sainte-Justine University Hospital, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s00246-019-02246-5DOI Listing
February 2020

PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications.

Cancer Genet 2019 06 26;235-236:28-30. Epub 2019 Mar 26.

Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2019.03.004DOI Listing
June 2019

Genetic Testing in a Cohort of Complex Esophageal Atresia.

Mol Syndromol 2017 Aug 16;8(5):236-243. Epub 2017 Jun 16.

CHU Sainte-Justine Research Center, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1159/000477429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582425PMC
August 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses.

Spine (Phila Pa 1976) 2017 Jul;42(14):E841-E847

*CHU Sainte-Justine Research Center, Montreal, Quebec, Canada †Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada ‡Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1097/BRS.0000000000001983DOI Listing
July 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report.

Pediatrics 2016 07;138(1)

CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1542/peds.2015-3608DOI Listing
July 2016

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Eur J Hum Genet 2016 Apr 1;24(4):535-41. Epub 2015 Jul 1.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, USA.

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http://dx.doi.org/10.1038/ejhg.2015.155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929874PMC
April 2016

Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature.

Prenat Diagn 2015 Mar 19;35(3):305-7. Epub 2014 Nov 19.

Medical Genetics Division Sainte-Justine Mother Child University Hospital Center, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/pd.4518DOI Listing
March 2015

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.

Nat Genet 2014 Nov 5;46(11):1245-9. Epub 2014 Oct 5.

1] Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada. [2] Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada. [3] Department of Biochemistry, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/ng.3113DOI Listing
November 2014

The genetic landscape of infantile spasms.

Hum Mol Genet 2014 Sep 29;23(18):4846-58. Epub 2014 Apr 29.

Department of Pediatrics and Department of Neurosciences, Université de Montréal, Montréal, QC, Canada, CHU Ste-Justine Research Center, Montréal, QC, Canada,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu199DOI Listing
September 2014

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Eur J Hum Genet 2014 Jun 20;22(6):792-800. Epub 2013 Nov 20.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Child & Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023222PMC
June 2014

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Hum Genet 2014 Mar 24;133(3):321-30. Epub 2013 Oct 24.

The Rudbeck Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s00439-013-1379-zDOI Listing
March 2014

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.

Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1136/jmedgenet-2012-101132DOI Listing
October 2012

Correlation of intercentromeric distance, mosaicism, and sexual phenotype: molecular localization of breakpoints in isodicentric Y chromosomes.

2011 Nov 30;155A(11):2705-12. Epub 2011 Sep 30.

Département de Pathologie et Biologie Cellulaire, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.34260DOI Listing
November 2011

Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

JIMD Rep 2011 22;1:83-8. Epub 2011 Jun 22.

Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montréal, QC, Canada, H3T-1C5,

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http://dx.doi.org/10.1007/8904_2011_21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509823PMC
February 2013

Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs.

Horm Res 2009 18;72(2):98-105. Epub 2009 Aug 18.

CHU Sainte-Justine, Endocrinology Service, Montreal, Que., Canada.

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http://dx.doi.org/10.1159/000232162DOI Listing
November 2009

Catch me if you can: tracking down the genetic origins of congenital heart disease.

Eur Heart J 2007 Nov 25;28(22):2701-2. Epub 2007 Oct 25.

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http://dx.doi.org/10.1093/eurheartj/ehm479DOI Listing
November 2007

Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations.

2006 Dec;140(24):2768-75

Laboratoire de Cytogénétique Prénatale, Service de Génétique Médicale, CHU Sainte-Justine, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31472DOI Listing
December 2006

Familial deletion 18p syndrome: case report.

BMC Med Genet 2006 Jul 14;7:60. Epub 2006 Jul 14.

Service de génétique médicale, Département de Pédiatrie, CHU Ste-Justine, Université de Montréal, Montréal, Canada.

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http://dx.doi.org/10.1186/1471-2350-7-60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1540411PMC
July 2006

Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus.

2006 Aug;140(16):1768-72

Département de Pathologie et biologie cellulaire, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31338DOI Listing
August 2006

Prenatal diagnosis of cloverleaf skull: watch the hands!

Fetal Diagn Ther 2005 Jul-Aug;20(4):296-300

Department of Pediatric Imaging, Sainte Justine Hospital, Montreal, Canada.

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http://dx.doi.org/10.1159/000085089DOI Listing
September 2005

Human chromosome 7: DNA sequence and biology.

Science 2003 May 10;300(5620):767-72. Epub 2003 Apr 10.

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1126/science.1083423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882961PMC
May 2003

Tetrasomy Y by structural rearrangement: clinical report.

Am J Med Genet 2002 Sep;111(4):401-4

Département de Pathologie et Biologie Cellulaire, Université de Montréal, Canada.

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http://dx.doi.org/10.1002/ajmg.10591DOI Listing
September 2002