PMC Links for Nucleotide (Select 1675066479) - PMC

Select item 64053131.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Curró, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin-Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bucan, Susan Zeesman, Małgorzata J. M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Charles Perrine, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles Schwartz, Corrado Romano, Erik Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

Genet Med. 2019; 21(4): 816–825. Published online 2018 Sep 7. doi: 10.1038/s41436-018-0266-3

PMCID:: PMC6405313

Abstract Article PDF–1012K

Select item 58670832.

Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population

Yan Zhang, Xiaoli Xie, Jixiao Zeng, Qiang Wu, Ruizhong Zhang, Deli Zhu, Huimin Xia

J Cell Mol Med. 2018 Apr; 22(4): 2190–2199. Published online 2018 Jan 29. doi: 10.1111/jcmm.13498

PMCID:: PMC5867083

Abstract Article PDF–142K

Select item 56998273.

Comprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases

Zarko Manojlovic, Austin Christofferson, Winnie S. Liang, Jessica Aldrich, Megan Washington, Shukmei Wong, Daniel Rohrer, Scott Jewell, Rick A. Kittles, Mary Derome, Daniel Auclair, David Wesley Craig, Jonathan Keats, John D. Carpten

PLoS Genet. 2017 Nov; 13(11): e1007087. Published online 2017 Nov 22. doi: 10.1371/journal.pgen.1007087

PMCID:: PMC5699827

Abstract Article PDF–2.3M

Select item 56719154.

Cocaine-induced chromatin modifications associate with increased expression and 3D looping of Auts2

Olivia Engmann, Benoit Labonte, Amanda Mitchell, Pavel Bashtrykov, Erin S. Calipari, Chaggai Rosenbluh, Yong-Hwee E. Loh, Deena M. Walker, Dominika Burek, Peter J. Hamilton, Orna Issler, Rachael L. Neve, Gustavo Turecki, Yasmin Hurd, Andrew Chess, Li Shen, Isabelle Mansuy, Albert Jeltsch, Schahram Akbarian, Eric J. Nestler

Biol Psychiatry. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Biol Psychiatry. 2017 Dec 1; 82(11): 794–805. Published online 2017 May 5. doi: 10.1016/j.biopsych.2017.04.013

PMCID:: PMC5671915

Abstract Article PDF–2.2M

Select item 38235385.

The role of AUTS2 in neurodevelopment and human evolution

Nir Oksenberg, Nadav Ahituv

Trends Genet. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Trends Genet. 2013 Oct; 29(10): 10.1016/j.tig.2013.08.001. Published online 2013 Sep 2. doi: 10.1016/j.tig.2013.08.001

PMCID:: PMC3823538

Abstract Article PDF–833K

Select item 28771976.

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

J Elia, X Gai, H M Xie, J C Perin, E Geiger, J T Glessner, M D'arcy, R deBerardinis, E Frackelton, C Kim, F Lantieri, B M Muganga, L Wang, T Takeda, E F Rappaport, S F A Grant, W Berrettini, M Devoto, T H Shaikh, H Hakonarson, P S White

Mol Psychiatry. 2010 Jun; 15(6): 637–646. Published online 2009 Jun 23. doi: 10.1038/mp.2009.57

Correction in:: Mol Psychiatry. 2010 Nov; 15(11): 1122.

PMCID:: PMC2877197

Abstract Article PDF–228K

Select item 28025237.

Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept

M. L. Hamshere, E. K. Green, I. R. Jones, L. Jones, V. Moskvina, G. Kirov, D. Grozeva, I. Nikolov, D. Vukcevic, S. Caesar, K. Gordon-Smith, C. Fraser, E. Russell, G. Breen, D. St Clair, D. A. Collier, A. H. Young, I. N. Ferrier, A. Farmer, P. McGuffin, Wellcome Trust Case Control Consortium, P. A. Holmans, M. J. Owen, M. C. O’Donovan, N. Craddock

Br J Psychiatry. 2009 Jul; 195(1): 23–29. doi: 10.1192/bjp.bp.108.061424

PMCID:: PMC2802523

Abstract Article

Select item 54043308.

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

Xiaowei Sylvia Chen, Rose H. Reader, Alexander Hoischen, Joris A. Veltman, Nuala H. Simpson, Clyde Francks, Dianne F. Newbury, Simon E. Fisher

Sci Rep. 2017; 7: 46105. Published online 2017 Apr 25. doi: 10.1038/srep46105

PMCID:: PMC5404330

Abstract Article PDF–1.2M

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