Recent Publications

Oxytocin improved behavioral and electrophysiological deficits in a novel Shank3-deficient rat. Harony-Nicolas H, Kay M, du Hoffman J, Klein M, Bozdagi-Gunal O, Riad M, Dasklakis N, Sonar S, Castillo P, Hof P, Shapiro M, Baxter M, Wagner S, Buxbaum JD.

Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome. Mieses AM, Tavassoli T, Li E, Soorya L, Lurie S, Wang AT, Siper PM, Kolevzon A.

Justice in Selecting Participants for a Study in Phelan-McDermid Syndrome. Rhodes R, Kolevzon A.

Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. Wang AT, Lim T, Jamison J, Bush L, Soorya LV, Tavassoli T, Siper PM, Buxbaum JD, Kolevzon A.

Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD.

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. Cochoy DM, Kolevzon A, Kajiwara Y, Schoen M, Pascual-Lucas M, Lurie S, Buxbaum JD, Boeckers TM, Schmeisser MJ.

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. Cochoy DM, Kolevzon A, Kajiwara Y, Schoen M, Pascual-Lucas M, Lurie S, Buxbaum JD, Boeckers TM, Schmeisser MJ. Mol Autism. 2015 Apr 29;6:23.

Phelan-McDermid Syndrome and SHANK3: Implications for Treatment. Costales JL, Kolevzon A. Neurotherapeutics. 2015 Apr 17. [Epub ahead of print]

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. Hum Mol Genet. 2015 Apr 16. [Epub ahead of print]

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. Kolevzon A, Bush L, Wang AT, Halpern D, Frank Y, Grodberg D, Rapaport R, Tavassoli T, Chaplin W, Soorya L, Buxbaum JD. Mol Autism. 2014 Dec 12;5(1):54.

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, Rapaport R, Saland J, Srivastava S, Farrell C, Edelmann LJ, Buxbaum JD. J Neurodev Disord. 2014;6(1):39. Epub 2014 Oct 8. Review.

Absence of strong strain effects in behavioral analyses of Shank3-deficient mice. Drapeau E, Dorr NP, Elder GA, Buxbaum JD. Dis Model Mech. 2014 Jun;7(6):667-81. Epub 2014 Mar 20.

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang AT, Cai G, Parkhomenko E, Halpern D, Grodberg D, Angarita B, Willner JP, Yang A, Canitano R, Chaplin W, Betancur C, Buxbaum JD. Mol Autism. 2013 Jun 11;4(1):18.

SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Betancur C, Buxbaum JD. Mol Autism. 2013 Jun 11;4(1):17.

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay. Bozdagi O, Tavassoli T, Buxbaum JD. Mol Autism. 2013 Apr 27;4(1):9.

Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. Yang M, Bozdagi O, Scattoni ML, Wöhr M, Roullet FI, Katz AM, Abrams DN, Kalikhman D, Simon H, Woldeyohannes L, Zhang JY, Harris MJ, Saxena R, Silverman JL, Buxbaum JD, Crawley JN. J Neurosci. 2012 May 9;32(19):6525-41.

Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold. Grabrucker AM, Schmeisser MJ, Udvardi PT, Arons M, Schoen M, Woodling NS, Andreasson KI, Hof PR, Buxbaum JD, Garner CC, Boeckers TM. Mol Neurodegener. 2011 Sep 22;6:65.

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. Brain Res. 2011 Mar 22;1380:98-105. Epub 2010 Nov 6. Review.

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. Mol Autism. 2010 Dec 17;1(1):15.

Multiple rare variants in the etiology of autism spectrum disorders. Buxbaum JD. Dialogues Clin Neurosci. 2009;11(1):35-43. Review.