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Items: 1 to 20 of 227

1.
Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder
Callista B. Harper, Grazia M.S. Mancini, Marjon van Slegtenhorst, Michael A. Cousin
Neurobiol Dis. 2017 Dec; 108: 298–306. doi: 10.1016/j.nbd.2017.08.021
PMCID:
PMC5673032
AbstractArticle
2.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Undiagnosed Diseases Network, Philippe M. Campeau
Am J Hum Genet. 2019 Jan 3; 104(1): 164–178. Published online 2018 Dec 20. doi: 10.1016/j.ajhg.2018.11.007
PMCID:
PMC6323608
AbstractArticlePDF–1.8M
3.
EIF2S3 mutations associated with severe X-linked intellectual disability syndrome MEHMO
Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E. Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, Lyndal Henden, Ulrich Müller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar Klimes, Guntram Borck, Melanie Bahlo, Stefan A. Haas, Joo-Ran Kim, Leda E. Lotspeich-Cole, Daniela Gasperikova, Thomas E. Dever, Vera M. Kalscheuer
Hum Mutat. Author manuscript; available in PMC 2018 Nov 30.
Published in final edited form as: Hum Mutat. 2017 Apr; 38(4): 409–425. Published online 2017 Jan 23. doi: 10.1002/humu.23170
PMCID:
PMC6267786
AbstractArticlePDF–2.0M
4.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Nat Commun. 2018; 9: 4619. Published online 2018 Nov 5. doi: 10.1038/s41467-018-06014-6
Correction in:
Nat Commun. 2019; 10: 883.
Correction in:
Nat Commun. 2019; 10: 2079.
PMCID:
PMC6218476
AbstractArticlePDF–1.6M
5.
SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland, Fabian Bumbak, Daniel J Scott, Tess J Jiang, David Owen, Bradley J Turner, Stewart G Boyd, Mari Rossi, Mohammed Al-Raqad, Orly Elpeleg, Dawn Peck, Grazia M S Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias Haack, Zornitza Stark, Simon Sadedin, Broad Center for Mendelian Genomics, Tiong Yang Tan, Yunyun Jiang, Richard A Gibbs, Sara Ellingwood, Michelle Amaral, Whitley Kelley, Manju A Kurian, Michael A Cousin, F Lucy Raymond
Brain. 2018 Sep; 141(9): 2576–2591. Published online 2018 Aug 13. doi: 10.1093/brain/awy209
PMCID:
PMC6113648
AbstractArticlePDF–1.6M
6.
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy
Melodie R. Winawer, Nicole G. Griffin, Jorge Samanamud, Evan H. Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A. Schevon, Patricia Dugan, Manu Hegde, Sameer A. Sheth, Guy M. McKhann, Werner K. Doyle, Gerald A. Grant, Brenda E. Porter, Mohamad A. Mikati, Carrie R. Muh, Colin D. Malone, Ann Marie R. Bergin, Jurriaan M. Peters, Danielle K. McBrian, Alison M. Pack, Cigdem I. Akman, Christopher M. LaCoursiere, Katherine M. Keever, Joseph R. Madsen, Edward Yang, Hart G.W. Lidov, Catherine Shain, Andrew S. Allen, Peter Canoll, Peter B. Crino, Annapurna H. Poduri, Erin L. Heinzen
Ann Neurol. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: Ann Neurol. 2018 Jun; 83(6): 1133–1146. Published online 2018 May 16. doi: 10.1002/ana.25243
PMCID:
PMC6105543
AbstractArticlePDF–1.4M
7.
Silencing of the Drosophila ortholog of SOX5 leads to abnormal neuronal development and behavioral impairment
Airong Li, Basavaraj Hooli, Kristina Mullin, Rebecca E. Tate, Adele Bubnys, Rory Kirchner, Brad Chapman, Oliver Hofmann, Winston Hide, Rudolph E. Tanzi
Hum Mol Genet. 2017 Apr 15; 26(8): 1472–1482. Published online 2017 Feb 10. doi: 10.1093/hmg/ddx051
PMCID:
PMC6075463
AbstractArticlePDF–712K
8.
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
Vyne van der Schoot, Sonja de Munnik, Hanka Venselaar, Mariet Elting, Grazia M. S. Mancini, Conny M. A. Ravenswaaij‐Arts, Britt‐Marie Anderlid, Han G. Brunner, Servi J. C. Stevens
Mol Genet Genomic Med. 2018 May; 6(3): 393–400. Published online 2018 Mar 24. doi: 10.1002/mgg3.387
PMCID:
PMC6014478
AbstractArticlePDF–1.2M
9.
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures
Dale L. Bodian, John M. Schreiber, Thierry Vilboux, Alina Khromykh, Natalie S. Hauser
Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002360. doi: 10.1101/mcs.a002360
PMCID:
PMC5983171
AbstractArticlePDF–1.4M
10.
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Silvia De Rubeis, Paige M. Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A. Ting Wang, J. Lloyd Holder, Jr, Catalina Betancur, Joseph D. Buxbaum, Alexander Kolevzon
Mol Autism. 2018; 9: 31. Published online 2018 Apr 27. doi: 10.1186/s13229-018-0205-9
PMCID:
PMC5921983
AbstractArticlePDF–2.1M
11.
Enhanced Operant Extinction and Prefrontal Excitability in a Mouse Model of Angelman Syndrome
Michael S. Sidorov, Matthew C. Judson, Hyojin Kim, Marie Rougie, Alejandra I. Ferrer, Viktoriya D. Nikolova, Natallia V. Riddick, Sheryl S. Moy, Benjamin D. Philpot
J Neurosci. 2018 Mar 14; 38(11): 2671–2682. doi: 10.1523/JNEUROSCI.2828-17.2018
PMCID:
PMC5852653
AbstractArticlePDF–1.4M
12.
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
Angela T. Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E. Fisher, David A. Koolen
Eur J Hum Genet. 2018 Jan; 26(1): 75–84. Published online 2017 Dec 11. doi: 10.1038/s41431-017-0035-9
PMCID:
PMC5839037
AbstractArticlePDF–367K
13.
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
E E Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, J Boyle, M Leffler, M Raynaud, C Moraine, H van Bokhoven, T Kleefstra, K Kahrizi, H Najmabadi, H-H Ropers, M R Delgado, D Sirsi, S Golla, A Sommer, M P Pietryga, W K Chung, J Wynn, L Rohena, E Bernardo, D Hamlin, B M Faux, D K Grange, L Manwaring, J Tolmie, S Joss, DDD Study, J M Cobben, F A M Duijkers, J M Goehringer, T D Challman, F Hennig, U Fischer, A Grimme, V Suckow, L Musante, J Nicholl, M Shaw, S P Lodh, Z Niu, J A Rosenfeld, P Stankiewicz, T J Jentsch, J Gecz, M Field, V M Kalscheuer
Mol Psychiatry. 2018 Feb; 23(2): 222–230. Published online 2016 Aug 23. doi: 10.1038/mp.2016.135
PMCID:
PMC5794876
AbstractArticlePDF–662K
14.
Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
J Clin Res Pediatr Endocrinol. 2017 Dec; 9(4): 355–359. Published online 2017 Dec 15. doi: 10.4274/jcrpe.4324
PMCID:
PMC5785643
AbstractArticlePDF–637K
15.
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders
Claudio Toma, Kerrie D. Pierce, Alex D. Shaw, Anna Heath, Philip B. Mitchell, Peter R. Schofield, Janice M. Fullerton
PLoS Genet. 2018 Dec; 14(12): e1007535. Published online 2018 Dec 26. doi: 10.1371/journal.pgen.1007535
PMCID:
PMC6324819
AbstractArticlePDF–1.3M
16.
Prospective investigation of FOXP1 syndrome
Paige M. Siper, Silvia De Rubeis, Maria del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E. Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S. Wallace, Heather C. Mefford, Raphael A. Bernier, Alexander Kolevzon, Joseph D. Buxbaum
Mol Autism. 2017; 8: 57. Published online 2017 Oct 24. doi: 10.1186/s13229-017-0172-6
PMCID:
PMC5655854
AbstractArticlePDF–1.0M
17.
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha Al Shamsi, Makanko Komara, Bassam R. Ali, Elizabeth Roeder, Laura McAuley, Daniel S. Roy, David K. Manchester, Pilar Magoulas, Lauren E. King, Vickie Hannig, Dominique Bonneau, Anne-Sophie Denommé-Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A. Ward, Sau Wai Cheung, Weimin Bi, Christine M. Eng, James R. Lupski, Yaping Yang, Ankita Patel, Seema R. Lalani, Fan Xia, Pawel Stankiewicz
Hum Genet. Author manuscript; available in PMC 2017 Aug 4.
Published in final edited form as: Hum Genet. 2017 Apr; 136(4): 377–386. Published online 2017 Mar 1. doi: 10.1007/s00439-017-1763-1
Correction in:
Hum Genet. 2017 Jun 28
PMCID:
PMC5543723
AbstractArticlePDF–1.0M
18.
Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice
Shuichi Hayashi, Yoko Inoue, Satoko Hattori, Mari Kaneko, Go Shioi, Tsuyoshi Miyakawa, Masatoshi Takeichi
Sci Rep. 2017; 7: 5801. Published online 2017 Jul 19. doi: 10.1038/s41598-017-06374-x
PMCID:
PMC5517645
AbstractArticlePDF–4.6M
19.
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy
Lisa J Ewans, Michael Field, Ying Zhu, Gillian Turner, Melanie Leffler, Marcel E Dinger, Mark J Cowley, Michael F Buckley, Ingrid E Scheffer, Matilda R Jackson, Tony Roscioli, Cheryl Shoubridge
Eur J Hum Genet. 2017 Jun; 25(6): 763–767. Published online 2017 Mar 15. doi: 10.1038/ejhg.2017.29
PMCID:
PMC5477359
AbstractArticlePDF–638K
20.
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review
Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-en Yao, Xiumin Wang, Jian Wang
Medicine (Baltimore) 2017 May; 96(20): e6914. Published online 2017 May 19. doi: 10.1097/MD.0000000000006914
PMCID:
PMC5440144
AbstractArticlePDF–423K

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