Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C; Nantes Referral Center for inherited cardiac arrhythmia, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL Jr, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR. (2022)

In: Nature Genetics, 54(3):232-239.

Forschungsartikel (Zeitschrift)

Detection of Patients with Congenital and Often Concealed Long-QT Syndrome by Novel Deep Learning Models

Doldi F, Plagwitz L, Hoffmann LP, Rath B, Frommeyer G, Reinke F, Leitz P, Büscher A, Güner F, Brix T, Wegner FK, Willy K, Hanel Y, Dittmann S, Haverkamp W, Schulze-Bahr E, Varghese J, Eckardt L. (2022)

In: Journal of personalized medicine, 13;12(7):1135.

Forschungsartikel (Zeitschrift)

Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome

Morten Krogh Christiansen, Kasper Kjær-Sørensen, Natacha C Clavsen, Sven Dittmann, Maja Fuhlendorff Jensen, Halvor Østerby Guldbrandsen, Lisbeth Nørum Pedersen, Rikke Hasle Sørensen, Dorte Launholt Lildballe, Klara Müller, Patrick Müller, Kira Vogel, Boris Rudic, Martin Borggrefe, Claus Oxvig, Christian Aalkjær, Eric Schulze-Bahr, Vladimir Matchkov, Henning Bundgaard, Henrik Kjærulf Jensen (2022)

In: Heart Rhythm, 2023(20 (8)).

Forschungsartikel (Zeitschrift)

Long, longer, long QT syndrome: what makes the difference?

Dittmann S, Kayser A, Schulze-Bahr E. (2021)

In: ((Bitte Journal prüfen)), 117.

Forschungsartikel (Zeitschrift)

A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations

Hartung B, Tank A, Dittmann S, Ritz-Timme S, Schulze-Bahr E (2021)

In: BMC Cardiovascular Disorders, 21(1):174..

Forschungsartikel (Zeitschrift)

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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C; Nantes Referral Center for inherited cardiac arrhythmia, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL Jr, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR. (2022) In: Nature Genetics, 54(3):232-239. Forschungsartikel (Zeitschrift)
Non-syndromal mitral valve prolapse (MVP): a common entity, but not commonly associated with DCHS1 or FLNA mutations Uphoff K, Dittmann S, Ott P, Stallmeyer B, Schulze-Bahr E (2022) In: Journal of Thoracic Disease, 14(6). Forschungsartikel (Zeitschrift)
Detection of Patients with Congenital and Often Concealed Long-QT Syndrome by Novel Deep Learning Models Doldi F, Plagwitz L, Hoffmann LP, Rath B, Frommeyer G, Reinke F, Leitz P, Büscher A, Güner F, Brix T, Wegner FK, Willy K, Hanel Y, Dittmann S, Haverkamp W, Schulze-Bahr E, Varghese J, Eckardt L. (2022) In: Journal of personalized medicine, 13;12(7):1135. Forschungsartikel (Zeitschrift)
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy Rinné S, Stallmeyer B, Pinggera A, Netter MF, Matschke LA, Dittmann S, Kirchhefer U, Neudorf U, Opp J, Striessnig J, Decher N, Schulze-Bahr E. (2022) In: International Journal of Molecular Sciences, 23(22). Forschungsartikel (Zeitschrift)
Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome Morten Krogh Christiansen, Kasper Kjær-Sørensen, Natacha C Clavsen, Sven Dittmann, Maja Fuhlendorff Jensen, Halvor Østerby Guldbrandsen, Lisbeth Nørum Pedersen, Rikke Hasle Sørensen, Dorte Launholt Lildballe, Klara Müller, Patrick Müller, Kira Vogel, Boris Rudic, Martin Borggrefe, Claus Oxvig, Christian Aalkjær, Eric Schulze-Bahr, Vladimir Matchkov, Henning Bundgaard, Henrik Kjærulf Jensen (2022) In: Heart Rhythm, 2023(20 (8)). Forschungsartikel (Zeitschrift)
Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death Fischer B, Dittmann S, Brodehl A, Unger A, Stallmeyer B, Paul M, Seebohm G, Kayser A, Peischard S, Linke WA, Milting H, Schulze-Bahr E. (2021) In: International Journal of Cardiology, 329. Forschungsartikel (Zeitschrift)
Long, longer, long QT syndrome: what makes the difference? Dittmann S, Kayser A, Schulze-Bahr E. (2021) In: ((Bitte Journal prüfen)), 117. Forschungsartikel (Zeitschrift)
A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations Hartung B, Tank A, Dittmann S, Ritz-Timme S, Schulze-Bahr E. (2021) In: ((Bitte Journal prüfen)), 21. Forschungsartikel (Zeitschrift)
A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations Hartung B, Tank A, Dittmann S, Ritz-Timme S, Schulze-Bahr E (2021) In: BMC Cardiovascular Disorders, 21(1):174.. Forschungsartikel (Zeitschrift)
Nonsynonymous TNNI3K mutations and phenotypes: More than a "simple" cardiomyopathy. Dittmann S, Schulze-Bahr E. (2019) In: ((Bitte Journal prüfen)), 16. Forschungsartikel (Zeitschrift)