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
4q32―q35 and 6q16―q22 are valuable candidate regions for split hand/foot malformation
NIEDRIST, Dunja, LURIE, Iosif W, SCHINZEL, Albert
Published in European journal of human genetics : EJHG (18.02.2009)
Published in European journal of human genetics : EJHG (18.02.2009)
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Journal Article
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies
Steiner, Bernhard, Masood, Rahim, Rufibach, Kaspar, Niedrist, Dunja, Kundert, Oliver, Riegel, Mariluce, Schinzel, Albert
Published in European journal of human genetics : EJHG (01.04.2015)
Published in European journal of human genetics : EJHG (01.04.2015)
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Journal Article
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
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
Published in American journal of human genetics (05.09.2024)
Published in American journal of human genetics (05.09.2024)
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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
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
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
Roelfsema, Jeroen H., White, Stefan J., Ariyürek, Yavuz, Bartholdi, Deborah, Niedrist, Dunja, Papadia, Francesco, Bacino, Carlos A., den Dunnen, Johan T., van Ommen, Gert-Jan B., Breuning, Martijn H., Hennekam, Raoul C., Peters, Dorien J.M.
Published in American journal of human genetics (01.04.2005)
Published in American journal of human genetics (01.04.2005)
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Journal Article
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power
Oneda, Beatrice, Baldinger, Rosa, Reissmann, Regina, Reshetnikova, Irina, Krejci, Pavel, Masood, Rahim, Ochsenbein-Kölble, Nicole, Bartholdi, Deborah, Steindl, Katharina, Morotti, Denise, Faranda, Marzia, Baumer, Alessandra, Asadollahi, Reza, Joset, Pascal, Niedrist, Dunja, Breymann, Christian, Hebisch, Gundula, Hüsler, Margaret, Mueller, René, Prentl, Elke, Wisser, Josef, Zimmermann, Roland, Rauch, Anita
Published in Prenatal diagnosis (01.06.2014)
Published in Prenatal diagnosis (01.06.2014)
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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
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand foot malformation
Niedrist, Dunja, Lurie, Iosif W, Schinzel, Albert
Published in European journal of human genetics : EJHG (01.08.2009)
Published in European journal of human genetics : EJHG (01.08.2009)
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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
Génétique Médicale: Le diagnostic préimplantatoire en Suisse: possibilités et problèmes
Niedrist, Dunja, Oneda, Beatrice, Rauch, Anita
Published in Forum médical suisse (En ligne) (02.01.2019)
Published in Forum médical suisse (En ligne) (02.01.2019)
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Journal Article
Basic aspects of medical genetics
Pajarola, Sandra, Bachmann, Ruxandra, Niedrist, Dunja, Rauch, Anita
Published in Praxis (Bern. 1994) (27.11.2013)
Published in Praxis (Bern. 1994) (27.11.2013)
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Journal Article
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies
Majava, Marja, Hoornaert, Kristien P., Bartholdi, Deborah, Bouma, Mieke C., Bouman, Katelijne, Carrera, Marta, Devriendt, Koenraad, Hurst, Jane, Kitsos, George, Niedrist, Dunja, Petersen, Michael B., Shears, Debbie, Stolte-Dijkstra, Irene, Van Hagen, J.M., Ala-Kokko, Leena, Männikkö, Minna, Mortier, Geert R.
Published in American journal of medical genetics. Part A (01.02.2007)
Published in American journal of medical genetics. Part A (01.02.2007)
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Journal Article
Trisomy 18: Changes in sex ratio during intrauterine life
Niedrist, Dunja, Riegel, Mariluce, Achermann, Josef, Rousson, Valentin, Schinzel, Albert
Published in American journal of medical genetics. Part A (01.11.2006)
Published in American journal of medical genetics. Part A (01.11.2006)
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Journal Article