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Page 1
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. Vaher U, et al. Among authors: noukas m. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. J Child Neurol. 2014. PMID: 24352161
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
Graziano C, Wischmeijer A, Pippucci T, Fusco C, Diquigiovanni C, Nõukas M, Sauk M, Kurg A, Rivieri F, Blau N, Hoffmann GF, Chaubey A, Schwartz CE, Romeo G, Bonora E, Garavelli L, Seri M. Graziano C, et al. Among authors: noukas m. Gene. 2015 Apr 1;559(2):144-8. doi: 10.1016/j.gene.2015.01.026. Epub 2015 Jan 14. Gene. 2015. PMID: 25597765
Copy number variations and cognitive phenotypes in unselected populations.
Männik K, Mägi R, Macé A, Cole B, Guyatt AL, Shihab HA, Maillard AM, Alavere H, Kolk A, Reigo A, Mihailov E, Leitsalu L, Ferreira AM, Nõukas M, Teumer A, Salvi E, Cusi D, McGue M, Iacono WG, Gaunt TR, Beckmann JS, Jacquemont S, Kutalik Z, Pankratz N, Timpson N, Metspalu A, Reymond A. Männik K, et al. Among authors: noukas m. JAMA. 2015 May 26;313(20):2044-54. doi: 10.1001/jama.2015.4845. JAMA. 2015. PMID: 26010633 Free PMC 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 S, Talvik I, Noormets K, Talvik T, Põder H, Joost K, Puusepp S, Piirsoo A, Stenzel W, Goebel HH, Nikopensius T, Annilo T, Nõukas M, Metspalu A, Õunap K, Reimand T. Pajusalu S, et al. Among authors: noukas m. Neuromuscul Disord. 2016 Mar;26(3):236-9. doi: 10.1016/j.nmd.2015.11.011. Epub 2015 Dec 3. Neuromuscul Disord. 2016. PMID: 26782017
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.
Tšuiko O, Nõukas M, Žilina O, Hensen K, Tapanainen JS, Mägi R, Kals M, Kivistik PA, Haller-Kikkatalo K, Salumets A, Kurg A. Tšuiko O, et al. Among authors: noukas m. Hum Reprod. 2016 Aug;31(8):1913-25. doi: 10.1093/humrep/dew142. Epub 2016 Jun 14. Hum Reprod. 2016. PMID: 27301361 Free PMC article.
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, McDaid AF, Porteous D, Winkler TW, Salvi E, Shrine N, Liu X, Ang WQ, Zhang W, Feitosa MF, Venturini C, van der Most PJ, Rosengren A, Wood AR, Beaumont RN, Jones SE, Ruth KS, Yaghootkar H, Tyrrell J, Havulinna AS, Boers H, Mägi R, Kriebel J, Müller-Nurasyid M, Perola M, Nieminen M, Lokki ML, Kähönen M, Viikari JS, Geller F, Lahti J, Palotie A, Koponen P, Lundqvist A, Rissanen H, Bottinger EP, Afaq S, Wojczynski MK, Lenzini P, Nolte IM, Sparsø T, Schupf N, Christensen K, Perls TT, Newman AB, Werge T, Snieder H, Spector TD, Chambers JC, Koskinen S, Melbye M, Raitakari OT, Lehtimäki T, Tobin MD, Wain LV, Sinisalo J, Peters A, Meitinger T, Martin NG, Wray NR, Montgomery GW, Medland SE, Swertz MA, Vartiainen E, Borodulin K, Männistö S, Murray A, Bochud M, Jacquemont S, Rivadeneira F, Hansen TF, Oldehinkel AJ, Mangino M, Province MA, Deloukas P, Kooner JS, Freathy RM, Pennell C, Feenstra B, Strachan DP, Lettre G, Hirschhorn J, Cusi D, Heid IM, Hayward C, Männik K, Beckmann JS, Loos RJF, Nyholt DR, Metspalu A, Eriksson JG, Weedon MN, Salomaa V, Franke L, Reymond A, Frayling TM, … See abstract for full author list ➔ Macé A, et al. Among authors: noukas m. Nat Commun. 2017 Sep 29;8(1):744. doi: 10.1038/s41467-017-00556-x. Nat Commun. 2017. PMID: 28963451 Free PMC article.
24 results