Correspondence (letter to the editor): New Insights

af Schoenhoff, Florian S., Matyas, Gabor, Carrel, Thierry
Udgivet 2009

Clinical sequencing: is WGS the better WES?

af Meienberg, Janine, Bruggmann, Rémy, Oexle, Konrad, Matyas, Gabor
Udgivet i Hum Genet (2016)

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

af Caspar, Sylvan M., Schneider, Timo, Meienberg, Janine, Matyas, Gabor
Udgivet i Int J Mol Sci (2020)

Vascular Ehlers–Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol?

af Gorosabel, Maria C, Dubacher, Nicolo, Meienberg, Janine, Matyas, Gabor
Udgivet i Eur Heart J Cardiovasc Pharmacother (2020)

Birt–Hogg–Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas

af Näf, Ernst, Laubscher, Dominik, Hopfer, Helmut, Streit, Markus, Matyas, Gabor
Udgivet i Fam Cancer (2015)

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

af Najafi, Arash, Caspar, Sylvan M., Meienberg, Janine, Rohrbach, Marianne, Steinmann, Beat, Matyas, Gabor
Udgivet i Clin Genet (2019)

Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification—a literature r...

af Stengl, Roland, Ágg, Bence, Pólos, Miklós, Mátyás, Gábor, Szabó, Gábor, Merkely, Béla, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán
Udgivet i Orphanet J Rare Dis (2021)

A pilot clinical trial with losartan in Myhre syndrome

af Cappuccio, Gerarda, Caiazza, Martina, Roca, Alessandro, Melis, Daniela, Iuliano, Antonella, Matyas, Gabor, Rubino, Marta, Limongelli, Giuseppe, Brunetti‐Pierri, Nicola
Udgivet i Am J Med Genet A (2020)

Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac

af Plüss, Michel, Kopps, Anna M., Keller, Irene, Meienberg, Janine, Caspar, Sylvan M., Dubacher, Nicolo, Bruggmann, Rémy, Vogel, Manfred, Matyas, Gabor
Udgivet i Proc Natl Acad Sci U S A (2017)

Medical Treatment of Aortic Aneurysms in Marfan Syndrome and other Heritable Conditions

af Jost, Christine H. Attenhofer, Greutmann, Matthias, Connolly, Heidi M., Weber, Roland, Rohrbach, Marianne, Oxenius, Angela, Kretschmar, Oliver, Luscher, Thomas F., Matyas, Gabor
Udgivet 2014

Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study

af Imboden, Medea, Downs, Sara H, Senn, Oliver, Matyas, Gabor, Brändli, Otto, Russi, Erich W, Schindler, Christian, Ackermann-Liebrich, Ursula, Berger, Wolfgang, Probst-Hensch, Nicole M
Udgivet 2007

New insights into the performance of human whole-exome capture platforms

af Meienberg, Janine, Zerjavic, Katja, Keller, Irene, Okoniewski, Michal, Patrignani, Andrea, Ludin, Katja, Xu, Zhenyu, Steinmann, Beat, Carrel, Thierry, Röthlisberger, Benno, Schlapbach, Ralph, Bruggmann, Rémy, Matyas, Gabor
Udgivet i Nucleic Acids Res (2015)

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

af Stengl, Roland, Bors, András, Ágg, Bence, Pólos, Miklós, Matyas, Gabor, Molnár, Mária Judit, Fekete, Bálint, Csabán, Dóra, Andrikovics, Hajnalka, Merkely, Béla, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán
Udgivet i Orphanet J Rare Dis (2020)

Mutations in CABP4, the Gene Encoding the Ca(2+)-Binding Protein 4, Cause Autosomal Recessive Night Blindness

af Zeitz, Christina, Kloeckener-Gruissem, Barbara, Forster, Ursula, Kohl, Susanne, Magyar, István, Wissinger, Bernd, Mátyás, Gábor, Borruat, François-Xavier, Schorderet, Daniel F., Zrenner, Eberhart, Munier, Francis L., Berger, Wolfgang
Udgivet 2006

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era

af Benke, Kálmán, Ágg, Bence, Meienberg, Janine, Kopps, Anna M., Fattorini, Nathalie, Stengl, Roland, Daradics, Noémi, Pólos, Miklós, Bors, András, Radovits, Tamás, Merkely, Béla, De Backer, Julie, Szabolcs, Zoltán, Mátyás, Gábor
Udgivet i J Thorac Dis (2018)

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

af Meienberg, Janine, Rohrbach, Marianne, Neuenschwander, Stefan, Spanaus, Katharina, Giunta, Cecilia, Alonso, Sira, Arnold, Eliane, Henggeler, Caroline, Regenass, Stephan, Patrignani, Andrea, Azzarello-Burri, Silvia, Steiner, Bernhard, Nygren, Anders OH, Carrel, Thierry, Steinmann, Beat, Mátyás, Gábor
Udgivet 2010