Sarah Boissel

Sarah Boissel

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Sarah Boissel

Sarah Boissel

Publications by authors named "Sarah Boissel"

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Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Am J Med Genet A 2019 03 16;179(3):386-396. Epub 2019 Jan 16.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61025DOI Listing
March 2019

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

J Med Genet 2015 May 3;52(5):303-11. Epub 2015 Feb 3.

CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Neurosciences, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102952DOI Listing
May 2015

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

Science 2011 Aug;333(6046):1161-3

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université de Strasbourg, BP 163, 67404 Illkirch Cedex, C. U. Strasbourg, France.

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http://dx.doi.org/10.1126/science.1206638DOI Listing
August 2011

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Eur J Hum Genet 2010 Mar 21;18(3):285-90. Epub 2009 Oct 21.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987214PMC
March 2010

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

Am J Hum Genet 2008 May 1;82(5):1150-7. Epub 2008 May 1.

Laboratoire de Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781), Université Paris Descartes, Hôpital Necker-Enfants Malades, F-75015 Paris, France.

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http://dx.doi.org/10.1016/j.ajhg.2008.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427205PMC
May 2008