Publications by authors named "Lucie Dupuis"

33Publications

Effects of sphingolipids overload on red blood cell properties in Gaucher disease.

J Cell Mol Med 2020 Aug 7. Epub 2020 Aug 7.

UMR_S1134, BIGR, Inserm, Institut National de Transfusion Sanguine, Laboratoire d'Excellence GR-Ex, Université de Paris, Paris, France.

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http://dx.doi.org/10.1111/jcmm.15534DOI Listing
August 2020

Semaphorin 7A: A novel marker of disease activity in Gaucher disease.

Am J Hematol 2020 05 7;95(5):483-491. Epub 2020 Feb 7.

Université de Paris, UMR_S1134, BIGR, Inserm, Institut National de Transfusion Sanguine, Laboratoire d'Excellence GR-Ex, Paris, France.

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http://dx.doi.org/10.1002/ajh.25744DOI Listing
May 2020

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

16q22.1 microdeletion and anticipatory guidance.

Am J Med Genet A 2019 07 29;179(7):1287-1292. Epub 2019 May 29.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61155DOI Listing
July 2019

Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.

Am J Med Genet A 2019 04 25;179(4):663-667. Epub 2019 Feb 25.

Division of Clinical and Metabolic Genetics and University of Toronto, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.61071
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http://dx.doi.org/10.1002/ajmg.a.61071DOI Listing
April 2019

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

Am J Med Genet A 2018 02 22;176(2):450-454. Epub 2017 Dec 22.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.38570
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http://dx.doi.org/10.1002/ajmg.a.38570DOI Listing
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:

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

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Am J Hum Genet 2015 Oct 10;97(4):608-15. Epub 2015 Sep 10.

Department of Genetics, King Faisal and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596891PMC
October 2015

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.

Am J Med Genet A 2014 Mar 20;164A(3):796-800. Epub 2013 Dec 20.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36356DOI Listing
March 2014

The collagenopathies: review of clinical phenotypes and molecular correlations.

Curr Rheumatol Rep 2014 Jan;16(1):394

Bone Health Centre, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 525 University Avenue, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s11926-013-0394-3DOI Listing
January 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

Am J Med Genet A 2012 Nov 17;158A(11):2946-52. Epub 2012 Sep 17.

The Hospital for Sick Children, Department of Paediatric Laboratory Medicine, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35619
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http://dx.doi.org/10.1002/ajmg.a.35619DOI Listing
November 2012

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Am J Med Genet A 2012 Jun 11;158A(6):1344-54. Epub 2012 May 11.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35339DOI Listing
June 2012

Angelman syndrome due to a termination codon mutation of the UBE3A gene.

J Child Neurol 2013 Mar 7;28(3):392-5. Epub 2012 May 7.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1177/0883073812443591DOI Listing
March 2013

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

Am J Med Genet A 2009 Mar;149A(3):322-7

Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32679DOI Listing
March 2009

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Am J Med Genet A 2007 May;143A(9):999-1008

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1002/ajmg.a.31689DOI Listing
May 2007

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Genet Med 2006 Jul;8(7):417-27

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, Virginia 23298, USA.

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http://dx.doi.org/10.1097/01.gim.0000228215.32110.89DOI Listing
July 2006

Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome.

Eur J Pediatr 2004 Mar 23;163(3):170-2. Epub 2003 Dec 23.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://link.springer.com/content/pdf/10.1007/s00431-003-1380
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http://link.springer.com/10.1007/s00431-003-1380-y
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http://dx.doi.org/10.1007/s00431-003-1380-yDOI Listing
March 2004