A cross-disorder dosage sensitivity map of the human genome
Collins, Ryan L., Glessner, Joseph T., Porcu, Eleonora, Lepamets, Maarja, Brandon, Rhonda, Lauricella, Christopher, Han, Lide, Morley, Theodore, Niestroj, Lisa-Marie, Ulirsch, Jacob, Everett, Selin, Howrigan, Daniel P., Boone, Philip M., Fu, Jack, Karczewski, Konrad J., Kellaris, Georgios, Lowther, Chelsea, Lucente, Diane, Mohajeri, Kiana, Nõukas, Margit, Nuttle, Xander, Samocha, Kaitlin E., Trinh, Mi, Ullah, Farid, Võsa, Urmo, Metspalu, Andres, Mägi, Reedik, Nelis, Mari, Milani, Lili, Esko, Tõnu, Hurles, Matthew E., Aradhya, Swaroop, Davis, Erica E., Finucane, Hilary, Gusella, James F., Janze, Aura, Katsanis, Nicholas, Matyakhina, Ludmila, Neale, Benjamin M., Sanders, David, Warren, Stephanie, Hodge, Jennelle C., Lal, Dennis, Ruderfer, Douglas M., Meck, Jeanne, Mägi, Reedik, Esko, Tõnu, Reymond, Alexandre, Kutalik, Zoltán, Hakonarson, Hakon, Sunyaev, Shamil, Brand, Harrison, Talkowski, Michael E.
Published in Cell (04.08.2022)
Published in Cell (04.08.2022)
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Copy Number Variations and Cognitive Phenotypes in Unselected Populations
Männik, Katrin, Mägi, Reedik, Macé, Aurélien, Cole, Ben, Guyatt, Anna L, Shihab, Hashem A, Maillard, Anne M, Alavere, Helene, Kolk, Anneli, Reigo, Anu, Mihailov, Evelin, Leitsalu, Liis, Ferreira, Anne-Maud, Nõukas, Margit, Teumer, Alexander, Salvi, Erika, Cusi, Daniele, McGue, Matt, Iacono, William G, Gaunt, Tom R, Beckmann, Jacques S, Jacquemont, Sébastien, Kutalik, Zoltán, Pankratz, Nathan, Timpson, Nicholas, Metspalu, Andres, Reymond, Alexandre
Published in JAMA : the journal of the American Medical Association (26.05.2015)
Published in JAMA : the journal of the American Medical Association (26.05.2015)
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In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages
Zamani Esteki, Masoud, Viltrop, Triin, Tšuiko, Olga, Tiirats, Airi, Koel, Mariann, Nõukas, Margit, Žilina, Olga, Teearu, Katre, Marjonen, Heidi, Kahila, Hanna, Meekels, Jeroen, Söderström-Anttila, Viveca, Suikkari, Anne-Maria, Tiitinen, Aila, Mägi, Reedik, Kõks, Sulev, Kaminen-Ahola, Nina, Kurg, Ants, Voet, Thierry, Vermeesch, Joris Robert, Salumets, Andres
Published in Nature medicine (01.11.2019)
Published in Nature medicine (01.11.2019)
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Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank
Leitsalu, Liis, Reigo, Anu, Palover, Marili, Nikopensius, Tiit, Läll, Kristi, Krebs, Kristi, Reisberg, Sulev, Mägi, Reedik, Kals, Mart, Alavere, Helene, Nõukas, Margit, Kolk, Anneli, Normet, Ivi, Tammesoo, Mari-Liis, Käärik, Ene, Puusepp, Mairo, Metsalu, Kristjan, Allik, Annely, Milani, Lili, Fischer, Krista, Tõnisson, Neeme, Metspalu, Andres
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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Journal Article
Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia
Nurm, Miriam, Reigo, Anu, Nõukas, Margit, Leitsalu, Liis, Nikopensius, Tiit, Palover, Marili, Annilo, Tarmo, Alver, Maris, Saar, Aet, Marandi, Toomas, Ainla, Tiia, Metspalu, Andres, Esko, Tõnu, Tõnisson, Neeme
Published in Frontiers in genetics (19.07.2022)
Published in Frontiers in genetics (19.07.2022)
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Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration
Rämö, Joel T, Abner, Erik, van Dijk, Elon H C, Wang, Xin, Brinks, Joost, Nikopensius, Tiit, Nõukas, Margit, Marjonen, Heidi, Silander, Kaisa, Jukarainen, Sakari, Kiiskinen, Tuomo, Choi, Seung Hoan, Kajanne, Risto, Mehtonen, Juha, Palta, Priit, Lubitz, Steven A, Kaarniranta, Kai, Sobrin, Lucia, Kurki, Mitja, Yzer, Suzanne, Ellinor, Patrick T, Esko, Tõnu, Daly, Mark J, den Hollander, Anneke I, Palotie, Aarno, Turunen, Joni A, Boon, Camiel J F, Rossin, Elizabeth J
Published in JAMA ophthalmology (01.05.2023)
Published in JAMA ophthalmology (01.05.2023)
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De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders
Vaher, Ulvi, Nõukas, Margit, Nikopensius, Tiit, Kals, Mart, Annilo, Tarmo, Nelis, Mari, Ounap, Katrin, Reimand, Tiia, Talvik, Inga, Ilves, Pilvi, Piirsoo, Andres, Seppet, Enn, Metspalu, Andres, Talvik, Tiina
Published in Journal of child neurology (01.12.2014)
Published in Journal of child neurology (01.12.2014)
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Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting
Jürgens, Hannes, Roht, Laura, Leitsalu, Liis, Nõukas, Margit, Palover, Marili, Nikopensius, Tiit, Reigo, Anu, Kals, Mart, Kallak, Kersti, Kütner, Riina, Budrikas, Kai, Kuusk, Saskia, Valvere, Vahur, Laidre, Piret, Toome, Kadri, Rekker, Kadri, Tooming, Mikk, Ülle Murumets, Kahre, Tiina, Kruuv-Käo, Krista, Õunap, Katrin, Padrik, Peeter, Metspalu, Andres, Esko, Tõnu, Fischer, Krista, Tõnisson, Neeme
Published in Frontiers in genetics (22.07.2022)
Published in Frontiers in genetics (22.07.2022)
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Journal Article
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population
Roht, Laura, Laidre, Piret, Tooming, Mikk, Tõnisson, Neeme, Nõukas, Margit, Nurm, Miriam, Estonian Biobank Research Team, Roomere, Hanno, Rekker, Kadri, Toome, Kadri, Fjodorova, Olga, Murumets, Ülle, Šamarina, Ustina, Pajusalu, Sander, Aaspõllu, Anu, Salumäe, Liis, Muhu, Kristina, Soplepmann, Jaan, Õunap, Katrin, Kahre, Tiina
Published in Cancers (01.07.2023)
Published in Cancers (01.07.2023)
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Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
Graziano, Claudio, Wischmeijer, Anita, Pippucci, Tommaso, Fusco, Carlo, Diquigiovanni, Chiara, Nõukas, Margit, Sauk, Martin, Kurg, Ants, Rivieri, Francesca, Blau, Nenad, Hoffmann, Georg F., Chaubey, Alka, Schwartz, Charles E., Romeo, Giovanni, Bonora, Elena, Garavelli, Livia, Seri, Marco
Published in Gene (01.04.2015)
Published in Gene (01.04.2015)
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Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11
Reinson, Karit, Kovacs-Nagy, Reka, Õiglane-Shlik, Eve, Pajusalu, Sander, Nõukas, Margit, Wintjes, Liesbeth T., van den Brandt, Frans C.A., Brink, Maaike, Acker, Till, Ahting, Uwe, Hahn, Andreas, Schänzer, Anne, Haack, Tobias B., Rodenburg, Richard J., Õunap, Katrin
Published in European journal of medical genetics (01.11.2019)
Published in European journal of medical genetics (01.11.2019)
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Journal Article
Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations
Lepamets, Maarja, Auwerx, Chiara, Nõukas, Margit, Claringbould, Annique, Porcu, Eleonora, Kals, Mart, Jürgenson, Tuuli, Morris, Andrew Paul, Võsa, Urmo, Bochud, Murielle, Stringhini, Silvia, Wijmenga, Cisca, Franke, Lude, Peterson, Hedi, Vilo, Jaak, Lepik, Kaido, Mägi, Reedik, Kutalik, Zoltán
Published in HGG advances (13.10.2022)
Published in HGG advances (13.10.2022)
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Journal Article
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
Vals, Mari-Anne, Õiglane-Shlik, Eve, Nõukas, Margit, Shor, Riina, Peet, Aleksandr, Kals, Mart, Kivistik, Paula Ann, Metspalu, Andres, Õunap, Katrin
Published in European journal of human genetics : EJHG (01.11.2014)
Published in European journal of human genetics : EJHG (01.11.2014)
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P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition
Pizzo, Lucilla, Lewis, Zoe, Walsh, Lauren, Runke, Cassandra, Nõukas, Margit, Männik, Katrin, Tõnisson, Neeme, Thorland, Erik, Martin, Christa, Rudd, Katie, Andersen, Erica
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion
Pajusalu, Sander, Talvik, Inga, Noormets, Klari, Talvik, Tiina, Põder, Haide, Joost, Kairit, Puusepp, Sanna, Piirsoo, Andres, Stenzel, Werner, Goebel, Hans H, Nikopensius, Tiit, Annilo, Tarmo, Nõukas, Margit, Metspalu, Andres, Õunap, Katrin, Reimand, Tiia
Published in Neuromuscular disorders : NMD (01.03.2016)
Published in Neuromuscular disorders : NMD (01.03.2016)
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Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta
Maasalu, Katre, Nikopensius, Tiit, Kõks, Sulev, Nõukas, Margit, Kals, Mart, Prans, Ele, Zhytnik, Lidiia, Metspalu, Andres, Märtson, Aare
Published in Human genomics (10.05.2015)
Published in Human genomics (10.05.2015)
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Journal Article
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants
Leitsalu, Liis, Alavere, Helene, Jacquemont, Sébastien, Kolk, Anneli, Maillard, Anne M, Reigo, Anu, Nõukas, Margit, Reymond, Alexandre, Männik, Katrin, Ng, Pauline C, Metspalu, Andres
Published in Personalized medicine (01.07.2016)
Published in Personalized medicine (01.07.2016)
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The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity
Pajusalu, Sander, Žilina, Olga, Yakoreva, Maria, Tammur, Pille, Kuuse, Kati, Mölter-Väär, Triin, Nõukas, Margit, Reimand, Tiia, Õunap, Katrin
Published in Molecular syndromology (01.09.2015)
Published in Molecular syndromology (01.09.2015)
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Journal Article
A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia
Männik, Katrin, Parkel, Sven, Palta, Priit, Žilina, Olga, Puusepp, Helen, Esko, Tõnu, Mägi, Reedik, Nõukas, Margit, Veidenberg, Andres, Nelis, Mari, Metspalu, Andres, Remm, Maido, Õunap, Katrin, Kurg, Ants
Published in European journal of medical genetics (01.03.2011)
Published in European journal of medical genetics (01.03.2011)
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Journal Article
C14orf132 gene is possibly related to extremely low birth weight
Tiirats, Airi, Viltrop, Triin, Nõukas, Margit, Reimann, Ene, Salumets, Andres, Kõks, Sulev
Published in BMC genetics (22.09.2016)
Published in BMC genetics (22.09.2016)
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