Steven Gazal - APHP - INSERM UMR 1137

Steven Gazal

APHP - INSERM UMR 1137

France

Steven Gazal - APHP - INSERM UMR 1137

Steven Gazal

Introduction

Primary Affiliation: APHP - INSERM UMR 1137 - France

Publications

17Publications

964Reads

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234PubMed Central Citations

Can whole-exome sequencing data be used for linkage analysis?

Eur J Hum Genet 2016 Apr 15;24(4):581-6. Epub 2015 Jul 15.

INSERM, UMR 1161, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2015.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929867PMC
April 2016
20 Reads
4 Citations
4.350 Impact Factor

Relationship inference from the genetic data on parents or offspring: A comparative study.

Theor Popul Biol 2016 Feb 30;107:31-8. Epub 2015 Sep 30.

Inserm, U946, Genetic Variation and Human Diseases Lab, Paris, France; Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie, UMR 946, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.tpb.2015.09.002DOI Listing
February 2016
6 Reads
1.702 Impact Factor

High level of inbreeding in final phase of 1000 Genomes Project.

Sci Rep 2015 Dec 2;5:17453. Epub 2015 Dec 2.

INSERM, Genetic variability and human diseases, UMR 946, F-75010 Paris, France.

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http://dx.doi.org/10.1038/srep17453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667178PMC
December 2015
28 Reads
13 Citations
5.080 Impact Factor

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Eur Respir J 2015 Aug 28;46(2):474-85. Epub 2015 May 28.

Université Paris Diderot, Sorbonne Paris Cité, Paris, France APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE Centre de compétence des maladies pulmonaires rares, Paris, France.

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http://dx.doi.org/10.1183/09031936.00040115DOI Listing
August 2015
45 Reads
28 Citations
7.640 Impact Factor

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.

Hum Hered 2014 29;77(1-4):49-62. Epub 2014 Jul 29.

Genetic Variability and Human Diseases, Inserm, U946, Paris, France.

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http://dx.doi.org/10.1159/000358224DOI Listing
March 2015
62 Reads
3 Citations
1.474 Impact Factor

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Res Int 2014 10;2014:925716. Epub 2014 Apr 10.

INSERM U976, Centre de Recherche sur la Peau, Hôpital Saint Louis, 1 Avenue Claude Vellefaux, 75010 Paris, France ; Laboratoire de Génétique, Hôpital Bichat Claude Bernard, APHP, IFR02, Université Paris 7, 46 rue Henri Hucahrd, 75018 Paris, France.

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http://dx.doi.org/10.1155/2014/925716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003837PMC
February 2015
146 Reads
1 Citation

SPP1 rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis.

Ann Rheum Dis 2014 Oct 16;73(10):1840-3. Epub 2014 Jun 16.

Department of Rheumatology, DHU FIRE, Assistance Publique Hôpitaux de Paris, Bichat Hospital, Université Paris Diderot, PRES Sorbonne Paris Cité, Paris, France INSERM U699, Bichat Faculty of Medicine, Université Paris Diderot, PRES Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1136/annrheumdis-2014-205539DOI Listing
October 2014
64 Reads
5 Citations
10.380 Impact Factor

Juvenile myelomonocytic leukaemia and Noonan syndrome.

J Med Genet 2014 Oct 5;51(10):689-97. Epub 2014 Aug 5.

INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.

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http://jmg.bmj.com/content/early/2014/08/05/jmedgenet-2014-1
Web Search
http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2014-102611
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2014-102611DOI Listing
October 2014
94 Reads
8 Citations
6.340 Impact Factor

FSuite: exploiting inbreeding in dense SNP chip and exome data.

Bioinformatics 2014 Jul 14;30(13):1940-1. Epub 2014 Mar 14.

Inserm, U946, Genetic variability and human diseases, Paris, 75010, Université Paris Sud, Kremlin-Bicêtre, 94270, Fondation Jean Dausset CEPH, Paris, 75010, Université Paris-Diderot, UMR 946, Institut Universitaire d'Hématologie, Paris, 75475, Inserm, U1078, Génétique, Génomique fonctionnelle et Biotechnologies, Brest, 29218 and Centre Hospitalier Régional Universitaire de Brest, Brest, 29200, France Inserm, U946, Genetic variability and human diseases, Paris, 75010, Université Paris Sud, Kremlin-Bicêtre, 94270, Fondation Jean Dausset CEPH, Paris, 75010, Université Paris-Diderot, UMR 946, Institut Universitaire d'Hématologie, Paris, 75475, Inserm, U1078, Génétique, Génomique fonctionnelle et Biotechnologies, Brest, 29218 and Centre Hospitalier Régional Universitaire de Brest, Brest, 29200, France.

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http://dx.doi.org/10.1093/bioinformatics/btu149DOI Listing
July 2014
12 Reads
12 Citations
4.981 Impact Factor

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

Hum Hered 2012 11;74(3-4):142-52. Epub 2013 Apr 11.

Inserm UMR-946, Genetic Variability and Human Diseases, Paris, France.

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http://dx.doi.org/10.1159/000346790DOI Listing
October 2013
95 Reads
1 Citation
1.474 Impact Factor

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

Am J Hum Genet 2011 Jun 19;88(6):718-728. Epub 2011 May 19.

INSERM UMR-S-740; Université Paris, 7 Denis Diderot, 10 Avenue de Verdun, 75010 Paris, France; Assistance Publique des Hôpitaux de Paris, Groupe Hospitalier Lariboisière-Saint-Louis, Laboratoire de Génétique, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil, F-75010 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2011.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113251PMC
June 2011
16 Reads
20 Citations
10.931 Impact Factor

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

Eur J Hum Genet 2011 May 2;19(5):583-7. Epub 2011 Mar 2.

Inserm, U946, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2010.205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083608PMC
May 2011
6 Reads
16 Citations
4.350 Impact Factor