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Items: 33

1.

Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome.

Cogram P, Deacon RMJ, Warner-Schmidt JL, von Schimmelmann MJ, Abrahams BS, During MJ.

Front Behav Neurosci. 2019 Jun 25;13:141. doi: 10.3389/fnbeh.2019.00141. eCollection 2019.

2.

Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.

Woo YJ, Kanellopoulos AK, Hemati P, Kirschen J, Nebel RA, Wang T, Bagni C, Abrahams BS.

Biol Psychiatry. 2019 Aug 15;86(4):306-314. doi: 10.1016/j.biopsych.2019.04.008. Epub 2019 Apr 17.

PMID:
31202490
3.

Common variation in the autism risk gene CNTNAP2, brain structural connectivity and multisensory speech integration.

Ross LA, Del Bene VA, Molholm S, Jae Woo Y, Andrade GN, Abrahams BS, Foxe JJ.

Brain Lang. 2017 Nov;174:50-60. doi: 10.1016/j.bandl.2017.07.005. Epub 2017 Jul 22.

PMID:
28738218
4.

A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus.

Woo YJ, Wang T, Guadalupe T, Nebel RA, Vino A, Del Bene VA, Molholm S, Ross LA, Zwiers MP, Fisher SE, Foxe JJ, Abrahams BS.

PLoS One. 2016 Jun 28;11(6):e0158036. doi: 10.1371/journal.pone.0158036. eCollection 2016.

5.

Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks.

Nebel RA, Zhao D, Pedrosa E, Kirschen J, Lachman HM, Zheng D, Abrahams BS.

PLoS One. 2016 Jan 29;11(1):e0148039. doi: 10.1371/journal.pone.0148039. eCollection 2016.

6.

Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.

Nebel RA, Kirschen J, Cai J, Woo YJ, Cherian K, Abrahams BS.

PLoS One. 2015 Jun 15;10(6):e0129270. doi: 10.1371/journal.pone.0129270. eCollection 2015.

7.

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR.

Oguro-Ando A, Rosensweig C, Herman E, Nishimura Y, Werling D, Bill BR, Berg JM, Gao F, Coppola G, Abrahams BS, Geschwind DH.

Mol Psychiatry. 2015 Sep;20(9):1069-78. doi: 10.1038/mp.2014.124. Epub 2014 Oct 14.

8.

Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder.

Berko ER, Suzuki M, Beren F, Lemetre C, Alaimo CM, Calder RB, Ballaban-Gil K, Gounder B, Kampf K, Kirschen J, Maqbool SB, Momin Z, Reynolds DM, Russo N, Shulman L, Stasiek E, Tozour J, Valicenti-McDermott M, Wang S, Abrahams BS, Hargitai J, Inbar D, Zhang Z, Buxbaum JD, Molholm S, Foxe JJ, Marion RW, Auton A, Greally JM.

PLoS Genet. 2014 May 29;10(5):e1004402. doi: 10.1371/journal.pgen.1004402. eCollection 2014.

9.

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs).

Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A.

Mol Autism. 2013 Oct 3;4(1):36. doi: 10.1186/2040-2392-4-36.

10.

The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.

Dougherty JD, Maloney SE, Wozniak DF, Rieger MA, Sonnenblick L, Coppola G, Mahieu NG, Zhang J, Cai J, Patti GJ, Abrahams BS, Geschwind DH, Heintz N.

J Neurosci. 2013 Feb 13;33(7):2732-53. doi: 10.1523/JNEUROSCI.4762-12.2013.

11.

Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.

Falivelli G, De Jaco A, Favaloro FL, Kim H, Wilson J, Dubi N, Ellisman MH, Abrahams BS, Taylor P, Comoletti D.

Hum Mol Genet. 2012 Nov 1;21(21):4761-73. doi: 10.1093/hmg/dds320. Epub 2012 Aug 7.

12.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI Jr, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S.

Hum Genet. 2012 Apr;131(4):565-79. doi: 10.1007/s00439-011-1094-6. Epub 2011 Oct 14.

13.

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.

Peñagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, Sonnenblick LI, Gruver R, Almajano J, Bragin A, Golshani P, Trachtenberg JT, Peles E, Geschwind DH.

Cell. 2011 Sep 30;147(1):235-46. doi: 10.1016/j.cell.2011.08.040.

14.

Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2.

Scott-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D, Mumford JA, Poldrack RA, Dapretto M, Geschwind DH, Bookheimer SY.

Sci Transl Med. 2010 Nov 3;2(56):56ra80. doi: 10.1126/scitranslmed.3001344.

15.

A genome-wide scan for common alleles affecting risk for autism.

Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J.

Hum Mol Genet. 2010 Oct 15;19(20):4072-82. doi: 10.1093/hmg/ddq307. Epub 2010 Jul 27.

16.

Functional impact of global rare copy number variation in autism spectrum disorders.

Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C.

Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9.

17.

Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds.

Panaitof SC, Abrahams BS, Dong H, Geschwind DH, White SA.

J Comp Neurol. 2010 Jun 1;518(11):1995-2018. doi: 10.1002/cne.22318.

18.

Connecting genes to brain in the autism spectrum disorders.

Abrahams BS, Geschwind DH.

Arch Neurol. 2010 Apr;67(4):395-9. doi: 10.1001/archneurol.2010.47. Review.

19.

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H.

PLoS Genet. 2009 Jun;5(6):e1000536. doi: 10.1371/journal.pgen.1000536. Epub 2009 Jun 26.

20.

Common genetic variants on 5p14.1 associate with autism spectrum disorders.

Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H.

Nature. 2009 May 28;459(7246):528-33. doi: 10.1038/nature07999. Epub 2009 Apr 28.

21.

A functional genetic link between distinct developmental language disorders.

Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE.

N Engl J Med. 2008 Nov 27;359(22):2337-45. doi: 10.1056/NEJMoa0802828. Epub 2008 Nov 5.

22.

Advances in autism genetics: on the threshold of a new neurobiology.

Abrahams BS, Geschwind DH.

Nat Rev Genet. 2008 May;9(5):341-55. doi: 10.1038/nrg2346. Review. Erratum in: Nat Rev Genet. 2008 Jun;9(6):493.

23.

Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing.

Kumar RA, McGhee KA, Leach S, Bonaguro R, Maclean A, Aguirre-Hernandez R, Abrahams BS, Coccaro EF, Hodgins S, Turecki G, Condon A, Muir WJ, Brooks-Wilson AR, Blackwood DH, Simpson EM.

Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):880-9. doi: 10.1002/ajmg.b.30696.

PMID:
18205168
24.

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW.

Am J Hum Genet. 2008 Jan;82(1):165-73. doi: 10.1016/j.ajhg.2007.09.017.

25.

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH.

Am J Hum Genet. 2008 Jan;82(1):150-9. doi: 10.1016/j.ajhg.2007.09.005.

26.

Genome-wide analyses of human perisylvian cerebral cortical patterning.

Abrahams BS, Tentler D, Perederiy JV, Oldham MC, Coppola G, Geschwind DH.

Proc Natl Acad Sci U S A. 2007 Nov 6;104(45):17849-54. Epub 2007 Oct 31.

27.

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia.

Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, Nicod J, Xiong L, Joober R, Enard W, Krinsky B, Nanba E, Richardson AJ, Riley BP, Martin NG, Strittmatter SM, Möller HJ, Rujescu D, St Clair D, Muglia P, Roos JL, Fisher SE, Wade-Martins R, Rouleau GA, Stein JF, Karayiorgou M, Geschwind DH, Ragoussis J, Kendler KS, Airaksinen MS, Oshimura M, DeLisi LE, Monaco AP.

Mol Psychiatry. 2007 Dec;12(12):1129-39, 1057. Epub 2007 Jul 31.

28.

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.

Kumar RA, Leach S, Bonaguro R, Chen J, Yokom DW, Abrahams BS, Seaver L, Schwartz CE, Dobyns W, Brooks-Wilson A, Simpson EM.

Genes Brain Behav. 2007 Aug;6(6):503-16. Epub 2006 Nov 29.

29.

Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1.

Abrahams BS, Kwok MC, Trinh E, Budaghzadeh S, Hossain SM, Simpson EM.

J Neurosci. 2005 Jul 6;25(27):6263-70. Erratum in: J Neurosci. 2005 Aug 3;25(31):table of contents.

30.

Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice.

Kumar RA, Chan KL, Wong AH, Little KQ, Rajcan-Separovic E, Abrahams BS, Simpson EM.

Genesis. 2004 Feb;38(2):51-7.

PMID:
14994267
31.

Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocation.

Abrahams BS, Chong AC, Nisha M, Milette D, Brewster DA, Berry ML, Muratkhodjaev F, Mai S, Rajcan-Separovic E, Simpson EM.

Genesis. 2003 Jul;36(3):134-41.

PMID:
12872244
32.

Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.

Abrahams BS, Mak GM, Berry ML, Palmquist DL, Saionz JR, Tay A, Tan YH, Brenner S, Simpson EM, Venkatesh B.

Genomics. 2002 Jul;80(1):45-53.

PMID:
12079282
33.

Place conditioning with the dopamine D1-like receptor agonist SKF 82958 but not SKF 81297 or SKF 77434.

Abrahams BS, Rutherford JD, Mallet PE, Beninger RJ.

Eur J Pharmacol. 1998 Feb 19;343(2-3):111-8.

PMID:
9570457

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