Sebastien Moutton

Sebastien Moutton

UNVERIFIED PROFILE

Are you Sebastien Moutton?   Register this Author

Register author
Sebastien Moutton

Sebastien Moutton

Publications by authors named "Sebastien Moutton"

Are you Sebastien Moutton?   Register this Author

39Publications

1419Reads

16Profile Views

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

Genet Med 2019 Oct 3. 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/gim2017221
Publisher Site
http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Pediatr Neurol 2018 07 9;84:21-26. Epub 2018 Apr 9.

Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.015DOI Listing
July 2018

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:

View Article

Download full-text PDF

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

Typical facial gestalt in X-linked Kabuki syndrome.

Am J Med Genet A 2016 12 2;170(12):3363-3364. Epub 2016 Aug 2.

CHU de Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37864DOI Listing
December 2016

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Eur J Hum Genet 2016 Mar 8;24(3):455-8. Epub 2015 Jul 8.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2015140
Publisher Site
http://dx.doi.org/10.1038/ejhg.2015.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755376PMC
March 2016

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Parkinsonism Relat Disord 2014 Aug 9;20(8):935-7. Epub 2014 May 9.

Service de génétique médicale, CHU de Bordeaux, Hôpital Pellegrin, Bordeaux, France; Laboratoire MRGM: Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2014.04.026DOI Listing
August 2014

Mutation in TTI2 reveals a role for triple T complex in human brain development.

Hum Mutat 2013 Nov 10;34(11):1472-6. Epub 2013 Sep 10.

INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22399DOI Listing
November 2013

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Eur J Med Genet 2012 Feb 5;55(2):151-5. Epub 2012 Jan 5.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux cedex, France.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972121200002
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2011.12.009DOI Listing
February 2012