Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort
Kraemer, Dennis, Azzarello-Burri, Silvia, Steindl, Katharina, Boonsawat, Paranchai, Zweier, Markus, Dedes, Konstantin J, Joset, Pascal, Fink, Daniel, Rauch, Anita
Published in Swiss medical weekly (18.08.2019)
Published in Swiss medical weekly (18.08.2019)
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A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
Bartholdi, Deborah, Stray-Pedersen, Asbjørg, Azzarello-Burri, Silvia, Kibaek, Maria, Kirchhoff, Maria, Oneda, Beatrice, Rødningen, Olaug, Schmitt-Mechelke, Thomas, Rauch, Anita, Kjaergaard, Susanne
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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Journal Article
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza, Rauch, Anita
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Journal Article
Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer
Stoll, Susanna, Unger, Sheila, Azzarello-Burri, Silvia, Chappuis, Pierre, Graffeo, Rossella, Pichert, Gabriella, Röthlisberger, Benno, Taban, Francois, Riniker, Salome
Published in Swiss medical weekly (13.09.2021)
Published in Swiss medical weekly (13.09.2021)
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Journal Article
MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile
Fingerhut, Ralph, Joset, Pascal, Rupp, Niels, Girsberger, Martin, Sluka, Susanna, Herget, Theresia, Azzarello-Burri, Silvia, Rauch, Anita, Baumgartner, Matthias
Published in International journal of neonatal screening (01.09.2017)
Published in International journal of neonatal screening (01.09.2017)
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Journal Article
The clinical significance of small copy number variants in neurodevelopmental disorders
Asadollahi, Reza, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G, Rauch, Anita
Published in Journal of medical genetics (01.10.2014)
Published in Journal of medical genetics (01.10.2014)
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Journal Article
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
Asadollahi, Reza, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris, Rauch, Anita
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
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Journal Article
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.
Published in The New England journal of medicine (24.06.2021)
Published in The New England journal of medicine (24.06.2021)
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Journal Article
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
Collier, Jack J, Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M, Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M, Alsaif, Hessa S, Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A, Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S, Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G, Koenig, Michel, Taylor, Robert W
Published in The New England journal of medicine (24.06.2021)
Published in The New England journal of medicine (24.06.2021)
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Journal Article
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Papuc, Sorina M, Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L, Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M, Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Popp, Bernt, Støve, Svein I, Endele, Sabine, Myklebust, Line M, Hoyer, Juliane, Sticht, Heinrich, Azzarello-Burri, Silvia, Rauch, Anita, Arnesen, Thomas, Reis, André
Published in European journal of human genetics : EJHG (01.05.2015)
Published in European journal of human genetics : EJHG (01.05.2015)
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Journal Article
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing
Oneda, Beatrice, Sirleto, Pietro, Baldinger, Rosa, Taralczak, Malgorzata, Joset, Pascal, Zweier, Markus, Niedrist, Dunja, Azzarello-Burri, Silvia, Britschgi, Christian, Breymann, Christian, Ochsenbein-Kölble, Nicole, Burkhardt, Tilo, Wisser, Josef, Zimmermann, Roland, Steindl, Katharina, Rauch, Anita
Published in European journal of obstetrics & gynecology and reproductive biology (01.09.2020)
Published in European journal of obstetrics & gynecology and reproductive biology (01.09.2020)
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Journal Article
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich, Zweier, Christiane
Published in American journal of human genetics (02.08.2018)
Published in American journal of human genetics (02.08.2018)
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Journal Article
Special form of osteoporosis in a 53-year-old man
Lampart, Simon, Azzarello-Burri, Silvia, Henzen, Christoph, Fischli, Stefan
Published in BMJ case reports (13.12.2018)
Published in BMJ case reports (13.12.2018)
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Journal Article
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
Asadollahi, Reza, Strauss, Justin E, Zenker, Martin, Beuing, Oliver, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael, Schinzel, Albert, Stoeckli, Esther T, Rauch, Anita
Published in European journal of human genetics : EJHG (01.02.2018)
Published in European journal of human genetics : EJHG (01.02.2018)
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Journal Article
Phenotype and genotype in Nicolaides-Baraitser syndrome
Sousa, Sérgio B., Hennekam, Raoul C.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2014)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2014)
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Journal Article
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations
Gerth-Kahlert, Christina, Tiwari, Amit, Hanson, James V M, Batmanabane, Vaishnavi, Traboulsi, Elias, Pennesi, Mark E, Al-Qahtani, Abdullah A, Lam, Byron L, Heckenlively, John, Zweifel, Sandrine A, Vincent, Ajoy, Fierz, Fabienne, Barthelmes, Daniel, Branham, Kari, Khan, Naheed, Bahr, Angela, Baehr, Luzy, Magyar, István, Koller, Samuel, Azzarello-Burri, Silvia, Niedrist, Dunja, Heon, Elise, Berger, Wolfgang
Published in Investigative ophthalmology & visual science (01.08.2017)
Published in Investigative ophthalmology & visual science (01.08.2017)
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Journal Article
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders
Oneda, Beatrice, Asadollahi, Reza, Azzarello-Burri, Silvia, Niedrist, Dunja, Baldinger, Rosa, Masood, Rahim, Schinzel, Albert, Latal, Bea, Jenni, Oskar G., Rauch, Anita
Published in Molecular syndromology (01.08.2017)
Published in Molecular syndromology (01.08.2017)
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Journal Article
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
MEIENBERG, Janine, ROHRBACH, Marianne, AZZARELLO-BURRI, Silvia, STEINER, Bernhard, NYGREN, Anders Oh, CARREL, Thierry, STEINMANN, Beat, MATYAS, Gábor, NEUENSCHWANDER, Stefan, SPANAUS, Katharina, GIUNTA, Cecilia, ALONSO, Sira, ARNOLD, Eliane, HENGGELER, Caroline, REGENASS, Stephan, PATRIGNANI, Andrea
Published in European journal of human genetics : EJHG (01.12.2010)
Published in European journal of human genetics : EJHG (01.12.2010)
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