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203 results
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Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.
Murphy MM, Burrell TL, Cubells JF, Epstein MT, Espana R, Gambello MJ, Goines K, Klaiman C, Koh S, Russo RS, Saulnier CA, Walker E; Emory 3q29 Project, Mulle JG. Murphy MM, et al. BMC Psychiatry. 2020 Apr 22;20(1):184. doi: 10.1186/s12888-020-02598-w. BMC Psychiatry. 2020. PMID: 32321479 Free PMC article.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, García-Miñaúr S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J; International 22q11.2DS Brain and Behavior Consortium, Epstein MP, Williams NM, Bassett AS. Cleynen I, et al. Among authors: warren st. Mol Psychiatry. 2020 Feb 3:10.1038/s41380-020-0654-3. doi: 10.1038/s41380-020-0654-3. Online ahead of print. Mol Psychiatry. 2020. PMID: 32015465 Free article.
Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons.
Graef JD, Wu H, Ng C, Sun C, Villegas V, Qadir D, Jesseman K, Warren ST, Jaenisch R, Cacace A, Wallace O. Graef JD, et al. Among authors: warren st. Eur J Neurosci. 2020 May;51(10):2143-2157. doi: 10.1111/ejn.14660. Epub 2020 Feb 4. Eur J Neurosci. 2020. PMID: 31880363 Free PMC article.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. Zhao Y, et al. Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20. Am J Hum Genet. 2020. PMID: 31870554 Free PMC article.
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.
Albizua I, Chopra P, Sherman SL, Gambello MJ, Warren ST. Albizua I, et al. Among authors: warren st. Hum Mol Genet. 2020 Jan 15;29(2):238-247. doi: 10.1093/hmg/ddz279. Hum Mol Genet. 2020. PMID: 31813999
Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.
Pollak RM, Murphy MM, Epstein MP, Zwick ME, Klaiman C, Saulnier CA; Emory 3q29 Project, Mulle JG. Pollak RM, et al. Mol Autism. 2019 Jul 16;10:30. doi: 10.1186/s13229-019-0281-5. eCollection 2019. Mol Autism. 2019. PMID: 31346402 Free PMC article.
Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion.
Rutkowski TP, Purcell RH, Pollak RM, Grewenow SM, Gafford GM, Malone T, Khan UA, Schroeder JP, Epstein MP, Bassell GJ, Warren ST, Weinshenker D, Caspary T, Mulle JG. Rutkowski TP, et al. Among authors: warren st. Mol Psychiatry. 2019 Apr 11:10.1038/s41380-019-0413-5. doi: 10.1038/s41380-019-0413-5. Online ahead of print. Mol Psychiatry. 2019. PMID: 30976085 Free PMC article.
Voltage-Independent SK-Channel Dysfunction Causes Neuronal Hyperexcitability in the Hippocampus of Fmr1 Knock-Out Mice.
Deng PY, Carlin D, Oh YM, Myrick LK, Warren ST, Cavalli V, Klyachko VA. Deng PY, et al. Among authors: warren st. J Neurosci. 2019 Jan 2;39(1):28-43. doi: 10.1523/JNEUROSCI.1593-18.2018. Epub 2018 Nov 2. J Neurosci. 2019. PMID: 30389838 Free PMC article.
Case-control meta-analysis of blood DNA methylation and autism spectrum disorder.
Andrews SV, Sheppard B, Windham GC, Schieve LA, Schendel DE, Croen LA, Chopra P, Alisch RS, Newschaffer CJ, Warren ST, Feinberg AP, Fallin MD, Ladd-Acosta C. Andrews SV, et al. Among authors: warren st. Mol Autism. 2018 Jun 28;9:40. doi: 10.1186/s13229-018-0224-6. eCollection 2018. Mol Autism. 2018. PMID: 29988321 Free PMC article.
Reply to Plüss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes.
Johnston HR, Chopra P, Wingo TS, Patel V, Epstein MP, Mulle JG, Warren ST, Zwick ME, Cutler DJ. Johnston HR, et al. Among authors: warren st. Proc Natl Acad Sci U S A. 2017 Oct 3;114(40):E8323. doi: 10.1073/pnas.1714535114. Epub 2017 Sep 15. Proc Natl Acad Sci U S A. 2017. PMID: 28916730 Free PMC article. No abstract available.
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