1. ABCA7 rare variants and Alzheimer disease risk. (7th June 2016) Authors: Le Guennec, Kilan; Nicolas, Gaël; Quenez, Olivier; Charbonnier, Camille; Wallon, David; Bellenguez, Céline; Grenier-Boley, Benjamin; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Issue 4 (4th February 2016) Authors: Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Roger Lebel, Robert; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E.; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Caignec, Cédric Le; Cogné, Benjamin; ... Journal: Human mutation Issue: Volume 37:Issue 4(2016) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dysfunction of the Voltage‐Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome. Issue 6 (10th June 2016) Authors: Portero, Vincent; Le Scouarnec, Solena; Es‐Salah‐Lamoureux, Zeineb; Burel, Sophie; Gourraud, Jean‐Baptiste; Bonnaud, Stéphanie; Lindenbaum, Pierre; Simonet, Floriane; Violleau, Jade; Baron, Estelle; Moreau, Eléonore; Scott, Carol; Chatel, Stéphanie; Loussouarn, Gildas; O'Hara, Thomas; Mabo, Phili... Journal: Journal of the American Heart Association Issue: Volume 5:Issue 6(2016) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dysfunction of the Voltage‐Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome. Issue 6 (June 2016) Authors: Portero, Vincent; Le Scouarnec, Solena; Es‐Salah‐Lamoureux, Zeineb; Burel, Sophie; Gourraud, Jean‐Baptiste; Bonnaud, Stéphanie; Lindenbaum, Pierre; Simonet, Floriane; Violleau, Jade; Baron, Estelle; Moreau, Eléonore; Scott, Carol; Chatel, Stéphanie; Loussouarn, Gildas; O'Hara, Thomas; Mabo, Phili... Journal: Journal of the American Heart Association Issue: Volume 5:Issue 6(2016) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. (July 2016) Authors: Rimbert, Antoine; Pichelin, Matthieu; Lecointe, Simon; Marrec, Marie; Le Scouarnec, Solena; Barrak, Elias; Croyal, Mikael; Krempf, Michel; Le Marec, Hervé; Redon, Richard; Schott, Jean-Jacques; Magré, Jocelyne; Cariou, Bertrand Journal: Atherosclerosis Issue: Volume 250(2016) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. (February 2016) Authors: Sanchez-Castro, Marta; Eldjouzi, Hadja; Charpentier, Eric; Busson, Pierre-François; Hauet, Quentin; Lindenbaum, Pierre; Delasalle-Guyomarch, Béatrice; Baudry, Adrien; Pichon, Olivier; Pascal, Cécile; Lefort, Bruno; Bajolle, Fanny; Pezard, Philippe; Schott, Jean-Jacques; Dina, Christian; Redon, Ri... Journal: Circulation Issue: Volume 9:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I. (15th March 2016) Authors: Daumy, Xavier; Amarouch, Mohamed-Yassine; Lindenbaum, Pierre; Bonnaud, Stéphanie; Charpentier, Eric; Bianchi, Beatrice; Nafzger, Sabine; Baron, Estelle; Fouchard, Swanny; Thollet, Aurélie; Kyndt, Florence; Barc, Julien; Le Scouarnec, Solena; Makita, Naomasa; Le Marec, Hervé; Dina, Christian; Gour... Journal: International journal of cardiology Issue: Volume 207(2016) Page Start: 349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes. Issue 9 (13th September 2016) Authors: Yagihara, Nobue; Watanabe, Hiroshi; Barnett, Phil; Duboscq‐Bidot, Laetitia; Thomas, Atack C.; Yang, Ping; Ohno, Seiko; Hasegawa, Kanae; Kuwano, Ryozo; Chatel, Stéphanie; Redon, Richard; Schott, Jean‐Jacques; Probst, Vincent; Koopmann, Tamara T.; Bezzina, Connie R.; Wilde, Arthur A. M.; Nakano, Yu... Journal: Journal of the American Heart Association Issue: Volume 5:Issue 9(2016) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes. Issue 9 (September 2016) Authors: Yagihara, Nobue; Watanabe, Hiroshi; Barnett, Phil; Duboscq‐Bidot, Laetitia; Thomas, Atack C.; Yang, Ping; Ohno, Seiko; Hasegawa, Kanae; Kuwano, Ryozo; Chatel, Stéphanie; Redon, Richard; Schott, Jean‐Jacques; Probst, Vincent; Koopmann, Tamara T.; Bezzina, Connie R.; Wilde, Arthur A. M.; Nakano, Yu... Journal: Journal of the American Heart Association Issue: Volume 5:Issue 9(2016) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗