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454 results

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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM. Hiatt SM, et al. Among authors: cooper gm. PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30500825 Free PMC article.
Mammalian comparative sequence analysis of the Agrp locus.
Kaelin CB, Cooper GM, Sidow A, Barsh GS. Kaelin CB, et al. Among authors: cooper gm. PLoS One. 2007 Aug 8;2(8):e702. doi: 10.1371/journal.pone.0000702. PLoS One. 2007. PMID: 17684549 Free PMC article.
PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility.
Barsh GS, Cooper GM, Copenhaver GP, Gibson G, McCarthy MI, Tang H, Williams SM. Barsh GS, et al. Among authors: cooper gm. PLoS Genet. 2015 Dec 14;11(12):e1005716. doi: 10.1371/journal.pgen.1005716. eCollection 2015 Dec. PLoS Genet. 2015. PMID: 26655768 Free PMC article. No abstract available.
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S. Møller RS, et al. Among authors: cooper gm. Neurol Genet. 2016 Oct 31;2(6):e118. doi: 10.1212/NXG.0000000000000118. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27830187 Free PMC article.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Harms FL, et al. Among authors: cooper gm. Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017373 Free PMC article.
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Bowling KM, et al. Among authors: cooper gm. Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1. Genome Med. 2017. PMID: 28554332 Free PMC article.
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Blanchet P, Bebin M, Bruet S, Cooper GM, Thompson ML, Duban-Bedu B, Gerard B, Piton A, Suckno S, Deshpande C, Clowes V, Vogt J, Turnpenny P, Williamson MP, Alembik Y; Clinical Sequencing Exploratory Research Study Consortium; Deciphering Developmental Disorders Consortium; Glasgow E, McNeill A. Blanchet P, et al. Among authors: cooper gm. PLoS Genet. 2017 Aug 31;13(8):e1006957. doi: 10.1371/journal.pgen.1006957. eCollection 2017 Aug. PLoS Genet. 2017. PMID: 28859103 Free PMC article.
A genome-wide interactome of DNA-associated proteins in the human liver.
Ramaker RC, Savic D, Hardigan AA, Newberry K, Cooper GM, Myers RM, Cooper SJ. Ramaker RC, et al. Among authors: cooper sj, cooper gm. Genome Res. 2017 Nov;27(11):1950-1960. doi: 10.1101/gr.222083.117. Epub 2017 Oct 11. Genome Res. 2017. PMID: 29021291 Free PMC article.
454 results