Identification of Driver Epistatic Gene Pairs Combining Germline and Somatic Mutations in Cancer
Rocha, Jairo, Sastre, Jaume, Amengual-Cladera, Emilia, Hernandez-Rodriguez, Jessica, Asensio-Landa, Victor, Heine-Suñer, Damià, Capriotti, Emidio
Published in International journal of molecular sciences (26.05.2023)
Published in International journal of molecular sciences (26.05.2023)
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The conserved ASTN2/BRINP1 locus at 9q33.1–33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain
Pol-Fuster, Josep, Cañellas, Francesca, Ruiz-Guerra, Laura, Medina-Dols, Aina, Bisbal-Carrió, Bàrbara, Ortega-Vila, Bernat, Llinàs, Jaume, Hernandez-Rodriguez, Jessica, Lladó, Jerònia, Olmos, Gabriel, Strauch, Konstantin, Heine-Suñer, Damià, Vives-Bauzà, Cristòfol, Flaquer, Antònia
Published in Scientific reports (15.07.2021)
Published in Scientific reports (15.07.2021)
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Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation
Rico, Yolanda, Ramis, Maria Francisca, Massot, Montse, Torres-Juan, Laura, Pons, Jaume, Fortuny, Elena, Ripoll-Vera, Tomas, González, Rosa, Peral, Vicente, Rossello, Xavier, Heine Suñer, Damià
Published in Genes (25.11.2021)
Published in Genes (25.11.2021)
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Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes
Pol-Fuster, Josep, Cañellas, Francesca, Ruiz-Guerra, Laura, Medina-Dols, Aina, Bisbal-Carrió, Bàrbara, Asensio, Víctor, Ortega-Vila, Bernat, Marzese, Diego, Vidal, Carme, Santos, Carmen, Lladó, Jerònia, Olmos, Gabriel, Heine-Suñer, Damià, Strauch, Konstantin, Flaquer, Antònia, Vives-Bauzà, Cristòfol
Published in Frontiers in genetics (07.04.2021)
Published in Frontiers in genetics (07.04.2021)
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Journal Article
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
Fernández, Luis, Nevado, Julián, Santos, Fernando, Heine-Suñer, Damià, Martinez-Glez, Victor, García-Miñaur, Sixto, Palomo, Rebeca, Delicado, Alicia, Pajares, Isidora López, Palomares, María, García-Guereta, Luis, Valverde, Eva, Hawkins, Federico, Lapunzina, Pablo
Published in BMC medical genetics (02.06.2009)
Published in BMC medical genetics (02.06.2009)
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Journal Article
Geographical genetic variability: a factor to consider when assessing clinical implications of PRDM9
Alemany‐Schmidt, Alexandra, Navarro‐Palou, Maria, Voltes‐Cobo, Adrià, Rosell, Jordi, Heine‐Suñer, Damià, Picornell, Antònia, Oliver‐Bonet, Maria
Published in Molecular genetics & genomic medicine (01.03.2014)
Published in Molecular genetics & genomic medicine (01.03.2014)
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Journal Article
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Lecca, Mauro, Pehlivan, Davut, Suñer, Damià Heine, Weiss, Karin, Coste, Thibault, Zweier, Markus, Oktay, Yavuz, Danial-Farran, Nada, Rosti, Vittorio, Bonasoni, Maria Paola, Malara, Alessandro, Contrò, Gianluca, Zuntini, Roberta, Pollazzon, Marzia, Pascarella, Rosario, Neri, Alberto, Fusco, Carlo, Marafi, Dana, Mitani, Tadahiro, Posey, Jennifer Ellen, Bayramoglu, Sadik Etka, Gezdirici, Alper, Hernandez-Rodriguez, Jessica, Cladera, Emilia Amengual, Miravet, Elena, Roldan-Busto, Jorge, Ruiz, María Angeles, Bauzá, Cristofol Vives, Ben-Sira, Liat, Sigaudy, Sabine, Begemann, Anaïs, Unger, Sheila, Güngör, Serdal, Hiz, Semra, Sonmezler, Ece, Zehavi, Yoav, Jerdev, Michael, Balduini, Alessandra, Zuffardi, Orsetta, Horvath, Rita, Lochmüller, Hanns, Rauch, Anita, Garavelli, Livia, Tournier-Lasserve, Elisabeth, Spiegel, Ronen, Lupski, James R., Errichiello, Edoardo
Published in American journal of human genetics (06.04.2023)
Published in American journal of human genetics (06.04.2023)
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Journal Article
Epigenetic Differences Arise during the Lifetime of Monozygotic Twins
Fraga, Mario F., Ballestar, Esteban, Paz, Maria F., Ropero, Santiago, Setien, Fernando, Ballestar, Maria L., Heine-Suñer, Damia, Cigudosa, Juan C., Urioste, Miguel, Benitez, Javier, Boix-Chornet, Manuel, Sanchez-Aguilera, Abel, Ling, Charlotte, Carlsson, Emma, Poulsen, Pernille, Vaag, Allan, Stephan, Zarko, Spector, Tim D., Wu, Yue-Zhong, Plass, Christoph, Esteller, Manel, Gartler, Stanley M.
Published in Proceedings of the National Academy of Sciences - PNAS (26.07.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (26.07.2005)
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Journal Article
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion
Fernández, Luis, Lapunzina, Pablo, López Pajares, Isidora, Palomares, María, Martínez, Isabel, Fernández, Blanca, Quero, José, García-Guereta, Luis, García-Alix, Alfredo, Burgueros, Margarita, Galán-Gómez, Enrique, Carbonell-Pérez, José María, Pérez-Granero, Ángeles, Torres-Juan, Laura, Heine-Suñer, Damià, Rosell, Jordi, Delicado, Alicia
Published in American journal of medical genetics. Part A (01.05.2008)
Published in American journal of medical genetics. Part A (01.05.2008)
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Journal Article
Geographical genetic variability: a factor to consider when assessing clinical implications of PRDM 9
Alemany‐Schmidt, Alexandra, Navarro‐Palou, Maria, Voltes‐Cobo, Adrià, Rosell, Jordi, Heine‐Suñer, Damià, Picornell, Antònia, Oliver‐Bonet, Maria
Published in Molecular genetics & genomic medicine (01.03.2014)
Published in Molecular genetics & genomic medicine (01.03.2014)
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Journal Article
Angiotensin-converting-enzyme gene polymorphisms, smoking and chronic obstructive pulmonary disease
Busquets, Xavier, MacFarlane, Niall G, Heine-Suñer, Damià, Morlá, Montse, Torres-Juan, Laura, Iglesias, Amanda, Lladó, Jeronia, Sauleda, Jaume, Agustí, Alvar G N
Published in International journal of chronic obstructive pulmonary disease (2007)
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Published in International journal of chronic obstructive pulmonary disease (2007)
Journal Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia
BARCA-TIERNO, Veronica, AZA-CARMONA, Miriam, SANTOS, Fernando, IGNACIO RODRIGUEZ, Jose, POZO, Jesus, ARGENTE, Jesus, KALAYDJIEVA, Luba, GRACIA, Ricardo, CAMPOS-BARROS, Angel, BENITO-SANZ, Sara, HEATH, Karen E, BARROSO, Eva, HEINE-SUNER, Damia, AZMANOV, Dimitar, ROSELL, Jordi, EZQUIETA, Begona, SENTCHORDI MONTANE, Lucia, VENDRELL, Teresa, CRUZ, Jaime
Published in European journal of human genetics : EJHG (01.12.2011)
Published in European journal of human genetics : EJHG (01.12.2011)
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Journal Article
Unrelated Chromosomal Anomalies Found in Patients With Suspected 22qll.2 Deletion
FEMANDEZ, Luis, LAPUNZINA, Pablo, GALAN-GOMEZ, Enrique, CARBONELL-PEREZ, José Maria, PEREZ-GRANERO, Angeles, TORRES-JUAN, Laura, HEINE-SUNER, Damia, ROSELL, Jordi, DELICADO, Alicia, LOPEZ PAJARES, Isidora, PALOMARES, Maria, MARTINEZ, Isabel, FEMANDEZ, Blanca, QUERO, José, GARCIA-GUERETA, Luis, GARCIA-ALIX, Alfredo, BURGUEROS, Margarita
Published in American journal of medical genetics. Part A (2008)
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Published in American journal of medical genetics. Part A (2008)
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