Buxbaum JD - Search Results

1

Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.

Berg EL, Copping NA, Rivera JK, Pride MC, Careaga M, Bauman MD, Berman RF, Lein PJ, Harony-Nicolas H, Buxbaum JD, Ellegood J, Lerch JP, Wöhr M, Silverman JL. Berg EL, et al. Among authors: buxbaum jd. Autism Res. 2018 Apr;11(4):587-601. doi: 10.1002/aur.1925. Epub 2018 Jan 29. Autism Res. 2018. PMID: 29377611 Free PMC article.

2

Disease susceptibility genes for autism.

Bespalova IN, Buxbaum JD. Bespalova IN, et al. Among authors: buxbaum jd. Ann Med. 2003;35(4):274-81. doi: 10.1080/07853890310005966. Ann Med. 2003. PMID: 12846270 Free article. Review.

3

Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19.

Buxbaum JD, Silverman J, Keddache M, Smith CJ, Hollander E, Ramoz N, Reichert JG. Buxbaum JD, et al. Mol Psychiatry. 2004 Feb;9(2):144-50. doi: 10.1038/sj.mp.4001465. Mol Psychiatry. 2004. PMID: 14699429

4

A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders.

Sakurai T, Reichert J, Hoffman EJ, Cai G, Jones HB, Faham M, Buxbaum JD. Sakurai T, et al. Among authors: buxbaum jd. Autism Res. 2008 Aug;1(4):251-7. doi: 10.1002/aur.30. Autism Res. 2008. PMID: 19360675 Free PMC article.

5

Multiple rare variants in the etiology of autism spectrum disorders.

Buxbaum JD. Buxbaum JD. Dialogues Clin Neurosci. 2009;11(1):35-43. doi: 10.31887/DCNS.2009.11.1/jdbuxbaum. Dialogues Clin Neurosci. 2009. PMID: 19432386 Free PMC article. Review.

6

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.

McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD. McInnes LA, et al. Among authors: buxbaum jd. Mol Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5. Mol Autism. 2010. PMID: 20678247 Free PMC article.

7

Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities.

Kolevzon A, Cai G, Soorya L, Takahashi N, Grodberg D, Kajiwara Y, Willner JP, Tryfon A, Buxbaum JD. Kolevzon A, et al. Among authors: buxbaum jd. Brain Res. 2011 Mar 22;1380:98-105. doi: 10.1016/j.brainres.2010.11.005. Epub 2010 Nov 6. Brain Res. 2011. PMID: 21062623 Review.

8

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication.

Bozdagi O, Sakurai T, Papapetrou D, Wang X, Dickstein DL, Takahashi N, Kajiwara Y, Yang M, Katz AM, Scattoni ML, Harris MJ, Saxena R, Silverman JL, Crawley JN, Zhou Q, Hof PR, Buxbaum JD. Bozdagi O, et al. Among authors: buxbaum jd. Mol Autism. 2010 Dec 17;1(1):15. doi: 10.1186/2040-2392-1-15. Mol Autism. 2010. PMID: 21167025 Free PMC article.

9

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.

Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD. Sakurai T, et al. Among authors: buxbaum jd. Autism Res. 2011 Feb;4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3. Autism Res. 2011. PMID: 21328569

10

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. Brandt T, et al. Among authors: buxbaum jd. Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4. Am J Med Genet A. 2012. PMID: 22488896

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