Publications by authors named "Caroline Rooryck-Thambo"

11Publications

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

Clin Genet 2019 10 18;96(4):317-329. Epub 2019 Jul 18.

APHP, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié- Salpêtrière- Charles Foix, Paris, France.

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http://dx.doi.org/10.1111/cge.13594DOI 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.

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

International Triadin Knockout Syndrome Registry.

Circ Genom Precis Med 2019 02;12(2):e002419

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, and Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN (D.J.C., D.J.T., J.R.G., J.M.B., R.K.R., M.J.A.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002419DOI Listing
February 2019

Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiography.

Int J Cardiovasc Imaging 2016 Sep 20;32(9):1379-1389. Epub 2016 Jun 20.

Echocardiography Laboratory, Haut-Lévêque Heart Hospital, Bordeaux University Hospital, Avenue de Magellan, 33604, Pessac Cedex, France.

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http://dx.doi.org/10.1007/s10554-016-0929-6DOI Listing
September 2016

Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.

J Autism Dev Disord 2009 Sep 7;39(9):1252-60. Epub 2009 Apr 7.

Child Psychiatry Department, Centre Hospitalier Charles-Perrens, University Victor Segalen, Bordeaux 2, France.

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http://dx.doi.org/10.1007/s10803-009-0733-4DOI Listing
September 2009