Search Results - "Papik, Michael"

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies by Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita

“…Background As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome…”
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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders by Boonsawat, Paranchai, Horn, Anselm H. C., Steindl, Katharina, Baumer, Alessandra, Joset, Pascal, Kraemer, Dennis, Bahr, Angela, Ivanovski, Ivan, Cabello, Elena M., Papik, Michael, Zweier, Markus, Oneda, Beatrice, Sirleto, Pietro, Burkhardt, Tilo, Sticht, Heinrich, Rauch, Anita

“…The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is…”
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study by 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

“…Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic encephalopathies (DEE) are clinically and genetically heterogeneous severely…”
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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling by Boonsawat, Paranchai, Asadollahi, Reza, Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J, Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H C, Sticht, Heinrich, Rauch, Anita

“…Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain development. Although…”
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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly by 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

“…Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic…”
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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling by 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

“…Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of…”
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Cover by Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita

“…The cover image is based on the Original Article The current benefit of genome sequencing compared to exome sequencing in patients with developmental or…”
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Cover by Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita

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Cover by Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita

“…The cover image is based on the Original Article The current benefit of genome sequencing compared to exome sequencing in patients with developmental or…”
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Cover by Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita

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