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Author/Creator Genin, Emmanuelle

1. Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management. Issue 9 (23rd July 2022)

Authors:
Goudal, Adeline; Karakachoff, Matilde; Lindenbaum, Pierre; Baron, Estelle; Bonnaud, Stéphanie; Kyndt, Florence; Arnaud, Marine; Minois, Damien; Bourcereau, Emmanuelle; Thollet, Aurélie; Deleuze, Jean‐François; Genin, Emmanuelle; Wiart, François; Pasquié, Jean‐Luc; Galand, Vincent; Sacher, Frédéri...
Journal:
Human mutation
Issue:
Volume 43:Issue 9(2022)
Page Start:
1333
Record Type:
Journal Article
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2. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts. (February 2020)

Authors:
Belot, Alexandre; Rice, Gillian I; Omarjee, Sulliman Ommar; Rouchon, Quentin; Smith, Eve M D; Moreews, Marion; Tusseau, Maud; Frachette, Cécile; Bournhonesque, Raphael; Thielens, Nicole; Gaboriaud, Christine; Rouvet, Isabelle; Chopin, Emilie; Hoshino, Akihiro; Latour, Sylvain; Ranchin, Bruno; Cim...
Journal:
Lancet
Issue:
Volume 2:Number 2(2020)
Page Start:
e99
Record Type:
Journal Article
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4. High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5. Issue 1 (4th November 2018)

Authors:
Lerat, Justine; Bonnet, Crystel; Cartault, François; Loundon, Natalie; Jacquemont, Marie‐Line; Darcel, Françoise; Rouillon, Isabelle; Mezouaghi, Kheira; Guichet, Agnes; Litzler, Julie; Gesny, Roselyne; Gherbi, Souad; Aissa, Ines Ben; Digeon, Fabienne Saint James; Garabedian, Eréa‐Nöel; Bonnefont,...
Journal:
Clinical genetics
Issue:
Volume 95:Issue 1(2019)
Page Start:
177
Record Type:
Journal Article
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5. Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing. Issue 1 (December 2018)

Authors:
Husson, Thomas; Duboc, Jean-Baptiste; Quenez, Olivier; Charbonnier, Camille; Rotharmel, Maud; Cuenca, Macarena; Jegouzo, Xavier; Richard, Anne-Claire; Frebourg, Thierry; Deleuze, Jean-François; Boland, Anne; Genin, Emmanuelle; Debette, Stéphanie; Tzourio, Christophe; Campion, Dominique; Nicolas, ...
Journal:
Translational psychiatry
Issue:
Volume 8:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
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6. Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia. Issue 1 (January 2021)

Authors:
Rimbert, Antoine; Vanhoye, Xavier; Coulibaly, Dramane; Marrec, Marie; Pichelin, Matthieu; Charrière, Sybil; Peretti, Noël; Valéro, René; Wargny, Matthieu; Carrié, Alain; Lindenbaum, Pierre; Deleuze, Jean-François; Genin, Emmanuelle; Redon, Richard; Rollat-Farnier, Pierre Antoine; Goxe, Didier; De...
Journal:
Arteriosclerosis, thrombosis, and vascular biology
Issue:
Volume 41:Issue 1(2021)
Page Start:
Record Type:
Journal Article
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