These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
25. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949 [TBL] [Abstract][Full Text] [Related]
26. Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants. Sadakata T; Shinoda Y; Sato A; Iguchi H; Ishii C; Matsuo M; Yamaga R; Furuichi T Int J Environ Res Public Health; 2013 Nov; 10(12):6335-53. PubMed ID: 24287856 [TBL] [Abstract][Full Text] [Related]
27. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease. Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393 [TBL] [Abstract][Full Text] [Related]
28. Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. Mondal K; Ramachandran D; Patel VC; Hagen KR; Bose P; Cutler DJ; Zwick ME Hum Mol Genet; 2012 Oct; 21(19):4356-64. PubMed ID: 22773736 [TBL] [Abstract][Full Text] [Related]
29. Interaction of neurodevelopmental pathways and synaptic plasticity in mental retardation, autism spectrum disorder and schizophrenia: implications for psychiatry. Waltereit R; Banaschewski T; Meyer-Lindenberg A; Poustka L World J Biol Psychiatry; 2014 Sep; 15(7):507-16. PubMed ID: 24079538 [TBL] [Abstract][Full Text] [Related]
30. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites. Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858 [TBL] [Abstract][Full Text] [Related]
31. Increased burden of deleterious variants in essential genes in autism spectrum disorder. Ji X; Kember RL; Brown CD; Bućan M Proc Natl Acad Sci U S A; 2016 Dec; 113(52):15054-15059. PubMed ID: 27956632 [TBL] [Abstract][Full Text] [Related]
32. Mechanical Stress and Single Nucleotide Variants Regulate Alternative Splicing of the MYLK Gene. Mascarenhas JB; Tchourbanov AY; Fan H; Danilov SM; Wang T; Garcia JG Am J Respir Cell Mol Biol; 2017 Jan; 56(1):29-37. PubMed ID: 27529643 [TBL] [Abstract][Full Text] [Related]
36. Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site. Martínez-Pizarro A; Dembic M; Pérez B; Andresen BS; Desviat LR PLoS Genet; 2018 Apr; 14(4):e1007360. PubMed ID: 29684050 [TBL] [Abstract][Full Text] [Related]
37. De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia. Takata A; Ionita-Laza I; Gogos JA; Xu B; Karayiorgou M Neuron; 2016 Mar; 89(5):940-7. PubMed ID: 26938441 [TBL] [Abstract][Full Text] [Related]
38. Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders. Ishizuka K; Fujita Y; Kawabata T; Kimura H; Iwayama Y; Inada T; Okahisa Y; Egawa J; Usami M; Kushima I; Uno Y; Okada T; Ikeda M; Aleksic B; Mori D; Someya T; Yoshikawa T; Iwata N; Nakamura H; Yamashita T; Ozaki N Transl Psychiatry; 2017 Aug; 7(8):e1184. PubMed ID: 28763059 [TBL] [Abstract][Full Text] [Related]
39. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Susani L; Pangrazio A; Sobacchi C; Taranta A; Mortier G; Savarirayan R; Villa A; Orchard P; Vezzoni P; Albertini A; Frattini A; Pagani F Hum Mutat; 2004 Sep; 24(3):225-35. PubMed ID: 15300850 [TBL] [Abstract][Full Text] [Related]
40. Copy number and sequence variants implicate APBA2 as an autism candidate gene. Babatz TD; Kumar RA; Sudi J; Dobyns WB; Christian SL Autism Res; 2009 Dec; 2(6):359-64. PubMed ID: 20029827 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]