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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Geisheker MR, et al. Among authors: nordgren a. Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19. Nat Neurosci. 2017. PMID: 28628100 Free PMC article.
Chimerism resulting from parthenogenetic activation and dispermic fertilization.
Winberg J, Gustavsson P, Lagerstedt-Robinson K, Blennow E, Lundin J, Iwarsson E, Nordenström A, Anderlid BM, Bondeson ML, Nordenskjöld A, Nordgren A. Winberg J, et al. Among authors: nordgren a. Am J Med Genet A. 2010 Sep;152A(9):2277-86. doi: 10.1002/ajmg.a.33594. Am J Med Genet A. 2010. PMID: 20803645
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppströmer A, Anderlid BM, Nordenskjöld M, Schoumans J. Bremer A, et al. Among authors: nordgren a. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):115-24. doi: 10.1002/ajmg.b.31142. Epub 2010 Dec 8. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302340
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, K… See abstract for full author list ➔ Jacquemont S, et al. Among authors: nordgren a. Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406. Nature. 2011. PMID: 21881559 Free PMC article.
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Laurell T, et al. Among authors: nordgren a. Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30. Eur J Hum Genet. 2013. PMID: 23361222 Free PMC article.
244 results