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Items: 12

1.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE.

Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.

2.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

3.

CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders.

Gillentine MA, Lozoya R, Yin J, Grochowski CM, White JJ, Schaaf CP, Calarge CA.

J Affect Disord. 2018 Oct 15;239:247-252. doi: 10.1016/j.jad.2018.07.017. Epub 2018 Jul 11.

4.

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP.

J Hum Genet. 2018 Jul;63(7):795-801. doi: 10.1038/s10038-018-0451-x. Epub 2018 Apr 24.

5.

Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.

Gillentine MA, Yin J, Bajic A, Zhang P, Cummock S, Kim JJ, Schaaf CP.

Am J Hum Genet. 2017 Dec 7;101(6):874-887. doi: 10.1016/j.ajhg.2017.09.024. Epub 2017 Nov 9.

6.

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.

Gillentine MA, White JJ, Grochowski CM, Lupski JR, Schaaf CP, Calarge CA.

J Child Adolesc Psychopharmacol. 2017 Dec;27(10):908-915. doi: 10.1089/cap.2017.0068. Epub 2017 Aug 17.

7.

The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.

Gillentine MA, Schaaf CP, Patel A.

Am J Med Genet A. 2017 Sep;173(9):2485-2488. doi: 10.1002/ajmg.a.38328. Epub 2017 Jun 20.

8.

Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP.

J Autism Dev Disord. 2017 Mar;47(3):563. doi: 10.1007/s10803-017-3047-y. No abstract available.

PMID:
28168676
9.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP.

J Autism Dev Disord. 2017 Mar;47(3):549-562. doi: 10.1007/s10803-016-2961-8. Erratum in: J Autism Dev Disord. 2017 Mar;47(3):563.

10.

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.

Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY.

Elife. 2015 Aug 27;4. doi: 10.7554/eLife.10782.

11.

The human clinical phenotypes of altered CHRNA7 copy number.

Gillentine MA, Schaaf CP.

Biochem Pharmacol. 2015 Oct 15;97(4):352-362. doi: 10.1016/j.bcp.2015.06.012. Epub 2015 Jun 18. Review.

12.

Asynchronous evolutionary origins of Aβ and BACE1.

Moore DB, Gillentine MA, Botezatu NM, Wilson KA, Benson AE, Langeland JA.

Mol Biol Evol. 2014 Mar;31(3):696-702. doi: 10.1093/molbev/mst262. Epub 2013 Dec 19.

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