Claire Redin, PhD - MGH/Harvard Medical School - EMBO Postdoctoral Fellow

Claire Redin

PhD

MGH/Harvard Medical School

EMBO Postdoctoral Fellow

Boston, MA | United States

Main Specialties: Biology

Additional Specialties: Human Genetics, Bioinformatics, Neurosciences

Claire Redin, PhD - MGH/Harvard Medical School - EMBO Postdoctoral Fellow

Claire Redin

PhD

Introduction

Primary Affiliation: MGH/Harvard Medical School - Boston, MA , United States

Specialties:

Additional Specialties:

Publications

10Publications

393Reads

-Profile Views

419PubMed Central Citations

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
25 Reads
18 Citations

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
25 Reads
6 Citations

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
35 Reads
13 Citations
4.350 Impact Factor

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
17 Reads
65 Citations
10.931 Impact Factor

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

Hum Mol Genet 2012 Aug 31;21(16):3695-702. Epub 2012 May 31.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de Santé et de Recherche Médicale (INSERM) U964, Centre National de Recherche Scientifique UMR1704, Université de Strasbourg, Illkirch 67404, France.

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http://dx.doi.org/10.1093/hmg/dds200DOI Listing
August 2012
72 Reads
21 Citations
6.393 Impact Factor

A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.

Science 2012 Jul 24;337(6090):96-100. Epub 2012 May 24.

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1126/science.1218099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690818PMC
July 2012
33 Reads
152 Citations
31.480 Impact Factor

DPY19L2 deletion as a major cause of globozoospermia.

Am J Hum Genet 2011 Mar;88(3):344-50

Service de Biologie de la Reproduction, Centre Hospitalier Universitaire, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ajhg.2011.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059416PMC
March 2011
31 Reads
31 Citations
10.931 Impact Factor