Publications by authors named "Sophie Nambot"

20Publications

Reply to Hsueh YP et al.

Eur J Hum Genet 2020 Aug 9;28(8):999. Epub 2020 Apr 9.

Department of Neurological Surgery, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41431-020-0622-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7471462PMC
August 2020

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

Am J Hum Genet 2020 04 19;106(4):438-452. Epub 2020 Mar 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118572PMC
April 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

Implementation and use of whole exome sequencing for metastatic solid cancer.

EBioMedicine 2020 Jan 7;51:102624. Epub 2020 Jan 7.

Department of Medical Oncology, Georges François Leclerc Cancer Center - UNICANCER, 1 rue Professeur Marion, Dijon 21000, France; Platform of Transfer in Cancer Biology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, France; Université Bourgogne Franche-Comté, Dijon, France; Genomic and Immunotherapy Medical Institute, Dijon, France; INSERM U1231, Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.102624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000332PMC
January 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

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Eur J Med Genet 2017 Nov 12;60(11):595-604. Epub 2017 Aug 12.

Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173019
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http://dx.doi.org/10.1016/j.ejmg.2017.08.011DOI Listing
November 2017