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Select item 40437521.

Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

Douglas R. Stewart, Alexander Pemov, Jennifer J. Johnston, Julie C. Sapp, Meredith Yeager, Ji He, Joseph F. Boland, Laurie Burdett, Christina Brown, Richard A. Gatti, Blanche P. Alter, Leslie G. Biesecker, Sharon A. Savage

PLoS One. 2014; 9(6): e98686. Published online 2014 Jun 3. doi: 10.1371/journal.pone.0098686

PMCID:: PMC4043752

Abstract Article PDF–1.2M

Select item 45455952.

Children with 7q11.23 Duplication Syndrome: Psychological Characteristics

Carolyn B. Mervis, Bonita P. Klein-Tasman, Myra J. Huffman, Shelley L. Velleman, C. Holley Pitts, Danielle R. Henderson, Janet Woodruff-Borden, Colleen A. Morris, Lucy R. Osborne

Am J Med Genet A. Author manuscript; available in PMC 2015 Aug 22.

Published in final edited form as: Am J Med Genet A. 2015 Jul; 167(7): 1436–1450. Published online 2015 Apr 21. doi: 10.1002/ajmg.a.37071

PMCID:: PMC4545595

Abstract Article PDF–358K

Select item 45206903.

Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis

Aurore Curie, Kathy Yang, Irving Kirsch, Randy L. Gollub, Vincent des Portes, Ted J. Kaptchuk, Karin B. Jensen

PLoS One. 2015; 10(7): e0133316. Published online 2015 Jul 30. doi: 10.1371/journal.pone.0133316

PMCID:: PMC4520690

Abstract Article PDF–587K

Select item 44494224.

Prader-Willi, Angelman, and 15q11-q13 duplication syndromes

Louisa Kalsner, Stormy J. Chamberlain

Pediatr Clin North Am. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Pediatr Clin North Am. 2015 Jun; 62(3): 587–606. Published online 2015 Apr 22. doi: 10.1016/j.pcl.2015.03.004

PMCID:: PMC4449422

Abstract Article PDF–643K

Select item 44014405.

CACNA1D De Novo Mutations in Autism Spectrum Disorders Activate Cav1.3 L-Type Calcium Channels

Alexandra Pinggera, Andreas Lieb, Bruno Benedetti, Michaela Lampert, Stefania Monteleone, Klaus R. Liedl, Petronel Tuluc, Jörg Striessnig

Biol Psychiatry. 2015 May 1; 77(9): 816–822. doi: 10.1016/j.biopsych.2014.11.020

PMCID:: PMC4401440

Abstract Article

Select item 42258256.

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Heba Gamal Farag, Sebastian Froehler, Konrad Oexle, Ethiraj Ravindran, Detlev Schindler, Timo Staab, Angela Huebner, Nadine Kraemer, Wei Chen, Angela M Kaindl

Orphanet J Rare Dis. 2013; 8: 178. Published online 2013 Nov 14. doi: 10.1186/1750-1172-8-178

PMCID:: PMC4225825

Abstract Article PDF–1.5M

Select item 42097187.

N-Myristoylation regulates the axonal distribution of the fragile X-related protein FXR2P

Emily E. Stackpole, Michael R. Akins, Justin R. Fallon

Mol Cell Neurosci. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Mol Cell Neurosci. 2014 Sep; 62: 42–50. Published online 2014 Aug 7. doi: 10.1016/j.mcn.2014.08.003

PMCID:: PMC4209718

Abstract Article PDF–831K

Select item 41627638.

Simulations Suggest Pharmacological Methods for Rescuing Long-Term Potentiation

Paul Smolen, Douglas A. Baxter, John H. Byrne

J Theor Biol. Author manuscript; available in PMC 2015 Nov 7.

Published in final edited form as: J Theor Biol. 2014 Nov 7; 360: 243–250. Published online 2014 Jul 15. doi: 10.1016/j.jtbi.2014.07.006

PMCID:: PMC4162763

Abstract Article PDF–535K

Select item 41370789.

Factors affecting the uptake of prenatal screening tests for congenital anomalies; a multicentre prospective cohort study

Janneke T Gitsels - van der Wal, Pieternel S Verhoeven, Judith Manniën, Linda Martin, Hans S Reinders, Evelien Spelten, Eileen K Hutton

BMC Pregnancy Childbirth. 2014; 14: 264. Published online 2014 Aug 9. doi: 10.1186/1471-2393-14-264

PMCID:: PMC4137078

Abstract Article PDF–336K

Select item 410625710.

CLINICAL OUTCOME AND PHENOTYPIC EXPRESSION IN LAMP2 CARDIOMYOPATHY

Barry J. Maron, William C. Roberts, Michael Arad, Tammy S. Haas, Paolo Spirito, Gregory B. Wright, Adrian K. Almquist, Jeanne M. Baffa, J. Philip Saul, Carolyn Y. Ho, Jonathan Seidman, Christine E. Seidman

JAMA. Author manuscript; available in PMC 2014 Jul 22.

Published in final edited form as: JAMA. 2009 Mar 25; 301(12): 1253–1259. doi: 10.1001/jama.2009.371

PMCID:: PMC4106257

Abstract Article PDF–697K

Select item 406755811.

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob A.S. Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T. Pagnamenta, Bárbara Oliveira, Christian R. Marshall, Tiago R. Magalhaes, Jennifer K. Lowe, Jennifer L. Howe, Anthony J. Griswold, John Gilbert, Eftichia Duketis, Beth A. Dombroski, Maretha V. De Jonge, Michael Cuccaro, Emily L. Crawford, Catarina T. Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Herman van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy Minshew, L. Alison McInnes, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Le Couteur, Alexander Kolevzon, Patricia Jiménez González, Suma Jacob, Richard Holt, Stephen Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Geraldine Dawson, Pauline Chaste, Cátia Café, Sean Brennan, Thomas Bourgeron, Patrick F. Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony J. Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret Pericak-Vance, Andrew D. Paterson, Jeremy R. Parr, Guiomar Oliveira, John I. Nurnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hakon Hakonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur, Stephen W. Scherer

Am J Hum Genet. 2014 May 1; 94(5): 677–694. doi: 10.1016/j.ajhg.2014.03.018

PMCID:: PMC4067558

Abstract Article PDF–1.0M

Select item 406151812.

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

Xiaonan Du, Yu An, Lifei Yu, Renchao Liu, Yanrong Qin, Xiaohong Guo, Daokan Sun, Shuizhen Zhou, Bailin Wu, Yong-hui Jiang, Yi Wang

BMC Med Genet. 2014; 15: 62. Published online 2014 May 29. doi: 10.1186/1471-2350-15-62

PMCID:: PMC4061518

Abstract Article PDF–1.6M

Select item 478917413.

Hoyeraal-Hreidarsson Syndrome Due to PARN Mutations: Fourteen Years of Follow-up

Ashley M. Burris, Bari J. Ballew, Joshua B. Kentosh, Clesson E. Turner, Scott A. Norton, NCI DCEG Cancer Genomics Research Laboratory, NCI DCEG Cancer Sequencing Working Group, Neelam Giri, Blanche P. Alter, Anandani Nellan, Christopher Gamper, Kip R. Hartman, Sharon A. Savage

Pediatr Neurol. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Pediatr Neurol. 2016 Mar; 56: 62–68.e1. Published online 2015 Dec 19. doi: 10.1016/j.pediatrneurol.2015.12.005

PMCID:: PMC4789174

Abstract Article PDF–349K

Select item 394042214.

Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron

PLoS One. 2014; 9(3): e88600. Published online 2014 Mar 3. doi: 10.1371/journal.pone.0088600

Correction in:: PLoS One. 2014; 9(6): e100607.

PMCID:: PMC3940422

Abstract Article PDF–1.1M

Select item 390621115.

Phenotypes of Hypofrontality in Older Female Fragile X Premutation Carriers

Jin-Chen Yang, Christa Simon, Yu-Qiong Niu, Mark Bogost, Andrea Schneider, Flora Tassone, Andreea Seritan, Jim Grigsby, Paul J. Hagerman, Randi J. Hagerman, John M. Olichney

Ann Neurol. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Ann Neurol. 2013 Aug; 74(2): 275–283. doi: 10.1002/ana.23933

PMCID:: PMC3906211

Abstract Article PDF–554K

Select item 390583516.

Abnormal Semantic Processing in Females with Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Jin-Chen Yang, Christa Simon, Andrea Schneider, Andreea L. Seritan, Laura Hamilton, Paul J. Hagerman, Randi J. Hagerman, John M. Olichney

Genes Brain Behav. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Genes Brain Behav. 2014 Feb; 13(2): 152–162. Published online 2013 Dec 26. doi: 10.1111/gbb.12114

PMCID:: PMC3905835

Abstract Article PDF–2.0M

Select item 388522817.

FMR1 CGG Expansions: Prevalence and Sex Ratios

Matthew J. Maenner, Mei W. Baker, Karl W. Broman, Jianan Tian, Janel K. Barnes, Anne Atkins, Elizabeth McPherson, Jinkuk Hong, Murray H. Brilliant, Marsha R. Mailick

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2013 Jul; 0(5): 10.1002/ajmg.b.32176. Published online 2013 Jun 5. doi: 10.1002/ajmg.b.32176

PMCID:: PMC3885228

Abstract Article PDF–194K

Select item 385062918.

MTHFR Genetic Polymorphism As a Risk Factor in Egyptian Mothers with Down Syndrome Children

Nagwa A. Meguid, Ahmed A. Dardir, Mohamed Khass, Lamia El Hossieny, Afaf Ezzat, Mostafa K. El Awady

Dis Markers. 2008; 24(1): 19–26. Published online 2007 Nov 26. doi: 10.1155/2008/214027

PMCID:: PMC3850629

Summary PDF–105K

Select item 383848519.

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

Jennifer Gladys Mulle, Ann E. Pulver, John M. McGrath, Paula Wolyniec, Anne F. Dodd, David J. Cutler, Jonathan Sebat, Dheeraj Malhotra, Gerald Nestadt, Donald F. Conrad, Matthew Hurles, Chris P. Barnes, Masashi Ikeda, Nakao Iwata, Douglas F. Levinson, Pablo V. Gejman, Alan R. Sanders, Jubao Duan, Adele A. Mitchell, Inga Peter, Pamela Sklar, Colm T. O’Dushlaine, Detelina Grozeva, Michael C. O’Donovan, Michael J. Owen, Christina M. Hultman, Anna K. Kähler, Patrick F. Sullivan, George Kirov, Stephen T. Warren

Biol Psychiatry. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Biol Psychiatry. 2014 Mar 1; 75(5): 371–377. Published online 2013 Jul 17. doi: 10.1016/j.biopsych.2013.05.040

PMCID:: PMC3838485

Abstract Article PDF–487K

Select item 364449920.

Intellectual disability associated with a homozygous missense mutation in THOC6

Chandree L Beaulieu, Lijia Huang, A Micheil Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D Ross McLeod, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh, Kym M Boycott

Orphanet J Rare Dis. 2013; 8: 62. Published online 2013 Apr 26. doi: 10.1186/1750-1172-8-62

PMCID:: PMC3644499

Abstract Article PDF–811K

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