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2010 2
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
Davies RW, Fiksinski AM, Breetvelt EJ, Williams NM, Hooper SR, Monfeuga T, Bassett AS, Owen MJ, Gur RE, Morrow BE, McDonald-McGinn DM, Swillen A, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, van Amelsvoort T, Arango C, Armando M, Campbell LE, Cubells JF, Eliez S, Garcia-Minaur S, Gothelf D, Kates WR, Murphy KC, Murphy CM, Murphy DG, Philip N, Repetto GM, Shashi V, Simon TJ, Suñer DH, Vicari S, Scherer SW; International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vorstman JAS. Davies RW, et al. Nat Med. 2020 Dec;26(12):1912-1918. doi: 10.1038/s41591-020-1103-1. Epub 2020 Nov 9. Nat Med. 2020. PMID: 33169016 Free PMC article.
The 22q11.2 deletion syndrome (22q11DS) is associated with a 20-25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes: sub-thres …
The 22q11.2 deletion syndrome (22q11DS) is associated with a 20-25% risk of schizophrenia. In a cohort of 962 individuals with 22q11D …
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. 2021 Aug;26(8):4496-4510. doi: 10.1038/s41380-020-0654-3. Epub 2020 Feb 3. Mol Psychiatry. 2021. PMID: 32015465 Free PMC article.
Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). ...Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (p(adj) = 6.73 10(-6)). ...
Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). ...Polygenic risk for schizophre
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.
Rutkowski TP, Schroeder JP, Gafford GM, Warren ST, Weinshenker D, Caspary T, Mulle JG. Rutkowski TP, et al. Among authors: warren st. J Neurosci Res. 2017 May;95(5):1144-1160. doi: 10.1002/jnr.23970. Epub 2016 Nov 8. J Neurosci Res. 2017. PMID: 27859486 Free PMC article. Review.
Recent studies show that the complex genetic architecture of schizophrenia (SZ) is driven in part by polygenic components, or the cumulative effect of variants of small effect in many genes, as well as rare single-locus variants with large effect sizes. ...
Recent studies show that the complex genetic architecture of schizophrenia (SZ) is driven in part by polygenic components, or the cum …
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. 2021 Mar;26(3):772-783. doi: 10.1038/s41380-019-0413-5. Epub 2019 Apr 11. Mol Psychiatry. 2021. PMID: 30976085 Free PMC article.
The 3q29 deletion confers increased risk for neuropsychiatric phenotypes including intellectual disability, autism spectrum disorder, generalized anxiety disorder, and a >40-fold increased risk for schizophrenia. To investigate consequences of the 3q29 deletion in an ex …
The 3q29 deletion confers increased risk for neuropsychiatric phenotypes including intellectual disability, autism spectrum disorder, genera …
Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome.
Sefik E, Purcell RH; Emory 3q29 Project, Walker EF, Bassell GJ, Mulle JG. Sefik E, et al. Transl Psychiatry. 2021 Jun 15;11(1):357. doi: 10.1038/s41398-021-01435-2. Transl Psychiatry. 2021. PMID: 34131099 Free PMC article.
The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other neurodevelopmental and psychiatric disorders. ...Top network-neighbors of 3q29 genes showed significant overlap with known schizophrenia, autism, and intellectual disability-risk genes, sugges …
The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other neurodevelopmental and psychiatric disorders. ...Top networ …
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Moreno-De-Luca D; SGENE Consortium, Mulle JG; Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ; GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: warren st. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.
Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. ...In a large follow-up sample, the same deletion …
Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important e …
Genome-wide association study of schizophrenia in Ashkenazi Jews.
Goes FS, McGrath J, Avramopoulos D, Wolyniec P, Pirooznia M, Ruczinski I, Nestadt G, Kenny EE, Vacic V, Peters I, Lencz T, Darvasi A, Mulle JG, Warren ST, Pulver AE. Goes FS, et al. Among authors: warren st. Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):649-59. doi: 10.1002/ajmg.b.32349. Epub 2015 Jul 21. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26198764
Schizophrenia is a common, clinically heterogeneous disorder associated with lifelong morbidity and early mortality. Several genetic variants associated with schizophrenia have been identified, but the majority of the heritability remains unknown. ...
Schizophrenia is a common, clinically heterogeneous disorder associated with lifelong morbidity and early mortality. Several genetic
Microdeletions of 3q29 confer high risk for schizophrenia.
Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, Sobreira NL, Valle D, Rudd MK, Satten G, Cutler DJ, Pulver AE, Warren ST. Mulle JG, et al. Among authors: warren st. Am J Hum Genet. 2010 Aug 13;87(2):229-36. doi: 10.1016/j.ajhg.2010.07.013. Am J Hum Genet. 2010. PMID: 20691406 Free PMC article.
Schizophrenia (SZ) is a severe psychiatric illness that affects approximately 1% of the population and has a strong genetic underpinning. ...
Schizophrenia (SZ) is a severe psychiatric illness that affects approximately 1% of the population and has a strong genetic underpinn
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.
BACKGROUND: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, partic …
BACKGROUND: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism s …
Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences.
Suhl JA, Chopra P, Anderson BR, Bassell GJ, Warren ST. Suhl JA, et al. Among authors: warren st. Hum Mol Genet. 2014 Oct 15;23(20):5479-91. doi: 10.1093/hmg/ddu272. Epub 2014 May 29. Hum Mol Genet. 2014. PMID: 24876161 Free PMC article.
A major research priority has been the identification of the mRNA targets of FMRP, particularly as recent studies suggest an excess of FMRP targets among genes implicated in idiopathic autism and schizophrenia. Several large-scale studies have attempted to identify mRNAs b …
A major research priority has been the identification of the mRNA targets of FMRP, particularly as recent studies suggest an excess of FMRP …
12 results