Buxbaum J - Search Results

1

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

Brea-Fernández AJ, Álvarez-Barona M, Amigo J, Tubío-Fungueiriño M, Caamaño P, Fernández-Prieto M, Barros F, De Rubeis S, Buxbaum J, Carracedo Á. Brea-Fernández AJ, et al. Among authors: buxbaum j. Eur J Hum Genet. 2022 Aug;30(8):938-945. doi: 10.1038/s41431-022-01087-w. Epub 2022 Mar 23. Eur J Hum Genet. 2022. PMID: 35322241 Free PMC article.

2

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.

Kou Y, Betancur C, Xu H, Buxbaum JD, Ma'ayan A. Kou Y, et al. Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):130-42. doi: 10.1002/ajmg.c.31330. Epub 2012 Apr 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22499558 Free PMC article.

3

Family-based association tests for sequence data, and comparisons with population-based association tests.

Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X. Ionita-Laza I, et al. Eur J Hum Genet. 2013 Oct;21(10):1158-62. doi: 10.1038/ejhg.2012.308. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386037 Free PMC article.

4

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. He X, et al. Among authors: buxbaum jd. PLoS Genet. 2013;9(8):e1003671. doi: 10.1371/journal.pgen.1003671. Epub 2013 Aug 15. PLoS Genet. 2013. PMID: 23966865 Free PMC article.

5

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.

Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnström K, Palotie A, Daly MJ, Ma'ayan A, Fromer M, Buxbaum JD. Poultney CS, et al. Among authors: buxbaum jd. Am J Hum Genet. 2013 Oct 3;93(4):607-19. doi: 10.1016/j.ajhg.2013.09.001. Am J Hum Genet. 2013. PMID: 24094742 Free PMC article.

6

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD. Ionita-Laza I, et al. PLoS Genet. 2014 Dec 11;10(12):e1004729. doi: 10.1371/journal.pgen.1004729. eCollection 2014 Dec. PLoS Genet. 2014. PMID: 25502226 Free PMC article.

7

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Kozol RA, Cukier HN, Zou B, Mayo V, De Rubeis S, Cai G, Griswold AJ, Whitehead PL, Haines JL, Gilbert JR, Cuccaro ML, Martin ER, Baker JD, Buxbaum JD, Pericak-Vance MA, Dallman JE. Kozol RA, et al. Among authors: buxbaum jd. Hum Mol Genet. 2015 Jul 15;24(14):4006-23. doi: 10.1093/hmg/ddv138. Epub 2015 Apr 16. Hum Mol Genet. 2015. PMID: 25882707 Free PMC article.

8

Recent advances in the genetics of autism spectrum disorder.

De Rubeis S, Buxbaum JD. De Rubeis S, et al. Curr Neurol Neurosci Rep. 2015 Jun;15(6):36. doi: 10.1007/s11910-015-0553-1. Curr Neurol Neurosci Rep. 2015. PMID: 25946996 Review.

9

Genetics and genomics of autism spectrum disorder: embracing complexity.

De Rubeis S, Buxbaum JD. De Rubeis S, et al. Hum Mol Genet. 2015 Oct 15;24(R1):R24-31. doi: 10.1093/hmg/ddv273. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188008 Free PMC article. Review.

10

Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.

Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD. Harony-Nicolas H, et al. J Child Neurol. 2015 Dec;30(14):1861-70. doi: 10.1177/0883073815600872. Epub 2015 Sep 8. J Child Neurol. 2015. PMID: 26350728 Free PMC article. Review.

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