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DZIP1 regulates mammalian cardiac valve development through a Cby1‐β‐catenin mechanism
DZIP1 regulates mammalian cardiac valve development through a Cby1‐β‐catenin mechanism
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DZIP1 regulates mammalian cardiac valve development through a Cby1‐β‐catenin mechanism

Guo, Lilong ; Beck, Tyler ; Fulmer, Diana ; Ramos‐Ortiz, Sandra ; Glover, Janiece ; Wang, Christina ; Moore, Kelsey ; Gensemer, Cortney ; Morningstar, Jordan ; Moore, Reece ; Schott, Jean‐Jacques ; Le Tourneau, Thierry ; Koren, Natalie ; Norris, Russell A.

Developmental dynamics, 2021-10, Vol.250 (10), p.1432-1449 [Revista revisada por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics
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eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

Bosio, Mattia ; Drechsel, Oliver ; Rahman, Rubayte ; Muyas, Francesc ; Rabionet, Raquel ; Bezdan, Daniela ; Domenech Salgado, Laura ; Hor, Hyun ; Schott, Jean‐Jacques ; Munell, Francina ; Colobran, Roger ; Macaya, Alfons ; Estivill, Xavier ; Ossowski, Stephan

Human mutation, 2019-07, Vol.40 (7), p.865-878 [Revista revisada por pares]

United States: Hindawi Limited

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3
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome
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Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome

Ishikawa, Taisuke ; Kimoto, Hiroki ; Mishima, Hiroyuki ; Yamagata, Kenichiro ; Ogata, Soshiro ; Aizawa, Yoshiyasu ; Hayashi, Kenshi ; Morita, Hiroshi ; Nakajima, Tadashi ; Nakano, Yukiko ; Nagase, Satoshi ; Murakoshi, Nobuyuki ; Kowase, Shinya ; Ohkubo, Kimie ; Aiba, Takeshi ; Morimoto, Shimpei ; Ohno, Seiko ; Kamakura, Shiro ; Nogami, Akihiko ; Takagi, Masahiko ; Karakachoff, Matilde ; Dina, Christian ; Schott, Jean-Jacques ; Yoshiura, Koh-Ichiro ; Horie, Minoru ; Shimizu, Wataru ; Nishimura, Kunihiro ; Kusano, Kengo ; Makita, Naomasa

European heart journal, 2021-07, Vol.42 (29), p.2854-2863 [Revista revisada por pares]

England: Oxford University Press

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4
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel
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Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

Liu, Hui ; Chatel, Stéphanie ; Simard, Christophe ; Syam, Ninda ; Salle, Laurent ; Probst, Vincent ; Morel, Julie ; Millat, Gilles ; Lopez, Michel ; Abriel, Hugues ; Schott, Jean-Jacques ; Guinamard, Romain ; Bouvagnet, Patrice Aalto-Setala, Katriina

PloS one, 2013-01, Vol.8 (1), p.e54131-e54131 [Revista revisada por pares]

United States: Public Library of Science

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5
Genetics of syndromic and non-syndromic mitral valve prolapse
Genetics of syndromic and non-syndromic mitral valve prolapse
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Genetics of syndromic and non-syndromic mitral valve prolapse

Le Tourneau, Thierry ; Mérot, Jean ; Rimbert, Antoine ; Le Scouarnec, Solena ; Probst, Vincent ; Le Marec, Hervé ; Levine, Robert A ; Schott, Jean-Jacques

Heart (British Cardiac Society), 2018-06, Vol.104 (12), p.978-984 [Revista revisada por pares]

England: BMJ Publishing Group LTD

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6
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
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Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management

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, Frédéric ; Dina, Christian ; Redon, Richard ; Bezieau, Stéphane ; Schott, Jean‐Jacques ; Probst, Vincent ; Barc, Julien

Human mutation, 2022-09, Vol.43 (9), p.1333-1342 [Revista revisada por pares]

Hoboken: Hindawi Limited

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7
An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
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An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Kapplinger, Jamie D., BA ; Tester, David J., BS ; Alders, Marielle, PhD ; Benito, Begoña, MD ; Berthet, Myriam, BA ; Brugada, Josep, MD, PhD ; Brugada, Pedro, MD, PhD ; Fressart, Véronique, MD ; Guerchicoff, Alejandra, PhD ; Harris-Kerr, Carole, PhD ; Kamakura, Shiro, MD, PhD ; Kyndt, Florence, PhD ; Koopmann, Tamara T., PhD ; Miyamoto, Yoshihiro, MD ; Pfeiffer, Ryan, BS ; Pollevick, Guido D., PhD ; Probst, Vincent, MD, PhD ; Zumhagen, Sven, MD ; Vatta, Matteo, PhD ; Towbin, Jeffrey A., MD ; Shimizu, Wataru, MD, PhD ; Schulze-Bahr, Eric, MD ; Antzelevitch, Charles, PhD ; Salisbury, Benjamin A., PhD ; Guicheney, Pascale, PhD ; Wilde, Arthur A.M., MD, PhD ; Brugada, Ramon, MD, PhD ; Schott, Jean-Jacques, PhD ; Ackerman, Michael J., MD, PhD

Heart rhythm, 2010-01, Vol.7 (1), p.33-46 [Revista revisada por pares]

United States: Elsevier Inc

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8
SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
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SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

Probst, Vincent ; Wilde, Arthur A.M ; Barc, Julien ; Sacher, Frederic ; Babuty, Dominique ; Mabo, Philippe ; Mansourati, Jacques ; Le Scouarnec, Solena ; Kyndt, Florence ; Le Caignec, Cedric ; Guicheney, Pascale ; Gouas, Laetitia ; Albuisson, Juliette ; Meregalli, Paola G ; Le Marec, Herve ; Tan, Hanno L ; Schott, Jean-Jacques

Circulation. Cardiovascular genetics, 2009-12, Vol.2 (6), p.552-557 [Revista revisada por pares]

United States: American Heart Association, Inc

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9
Identification of Large Families in Early Repolarization Syndrome
Identification of Large Families in Early Repolarization Syndrome
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Identification of Large Families in Early Repolarization Syndrome

Gourraud, Jean-Baptiste, MD ; Le Scouarnec, Solena, PhD ; Sacher, Frederic, MD ; Chatel, Stéphanie, PhD ; Derval, Nicolas, MD ; Portero, Vincent, MS ; Chavernac, Pascal, MD ; Sandoval, Juan E., PhD ; Mabo, Philippe, MD, PhD ; Redon, Richard, PhD ; Schott, Jean-Jacques, PhD ; Le Marec, Hervé, MD, PhD ; Haïssaguerre, Michel, MD, PhD ; Probst, Vincent, MD, PhD

Journal of the American College of Cardiology, 2013-01, Vol.61 (2), p.164-172 [Revista revisada por pares]

New York, NY: Elsevier Inc

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10
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line
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Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line

Geryk, Michelle ; Canac, Robin ; Forest, Virginie ; Lindenbaum, Pierre ; Girardeau, Aurore ; Baudic, Manon ; Baron, Estelle ; Bibonne, Anne ; Chariau, Caroline ; Kyndt, Florence ; Redon, Richard ; Schott, Jean-Jacques ; Gourraud, Jean-Baptiste ; Barc, Julien ; Charpentier, Flavien

Stem cell research, 2024-06, Vol.77, p.103396, Article 103396 [Revista revisada por pares]

England: Elsevier B.V

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