Publications by authors named "Claire Redin"

22Publications

[Precision medicine : at the crossroad of molecular biology, information sciences and humanities].

Rev Med Suisse 2020 Sep;16(704):1574-1578

Unité de médecine de précision, CHUV, 1011 Lausanne.

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September 2020

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder.

Biol Psychiatry 2018 08 9;84(4):239-252. Epub 2018 Jan 9.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France; Université de Strasbourg, Illkirch, France; Laboratory of Genetic Diagnostics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2018.01.002DOI Listing
August 2018

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Am J Hum Genet 2016 Nov 13;99(5):1015-1033. Epub 2016 Oct 13.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester 03101, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097935PMC
November 2016

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

J Hum Genet 2016 May 14;61(5):447-50. Epub 2016 Jan 14.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1038/jhg.2015.162DOI Listing
May 2016

VaRank: a simple and powerful tool for ranking genetic variants.

PeerJ 2015 3;3:e796. Epub 2015 Mar 3.

IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg , Illkirch Cedex , France ; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg , Strasbourg Cedex , France ; Laboratoire ICUBE, UMR CNRS 7357, LBGI, Université de Strasbourg , Strasbourg , France.

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http://dx.doi.org/10.7717/peerj.796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4358652PMC
March 2015

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

JAMA Neurol 2014 Oct;71(10):1305-10

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Strasbourg, Strasbourg, France9Laboratoire de Génétique des Maladies Rar.

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http://dx.doi.org/10.1001/jamaneurol.2014.193DOI Listing
October 2014

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Eur J Hum Genet 2014 Jun 30;22(6):776-83. Epub 2013 Oct 30.

1] IGBMC, CNRS UMR 7104/INSERM U964/University of Strasbourg, Illkirch Cedex, France [2] Chaire de Génétique Humaine, Collège de France, Paris, France [3] Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2013.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023218PMC
June 2014

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Am J Hum Genet 2013 Aug 18;93(2):368-83. Epub 2013 Jul 18.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7104, Institut National de la Santé et de la Recherche Médicale Unité 964, University of Strasbourg, 67404 Illkirch Cedex, France; Chaire de Génétique Humaine, Collège de France, 75231 Paris Cedex 05, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738825PMC
August 2013