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130 results

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Page 1
A novel mutation in EED associated with overgrowth.
Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT. Cohen AS, et al. Among authors: gibson wt. J Hum Genet. 2015 Jun;60(6):339-42. doi: 10.1038/jhg.2015.26. Epub 2015 Mar 19. J Hum Genet. 2015. PMID: 25787343
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT. Cohen AS, et al. Among authors: gibson wt. Am J Med Genet A. 2014 Sep;164A(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5. Am J Med Genet A. 2014. PMID: 24903541 Free article.
Genetic counseling in direct-to-consumer exome sequencing: a case report.
van den Berg S, Shen Y, Jones SJ, Gibson WT. van den Berg S, et al. Among authors: gibson wt. J Genet Couns. 2014 Oct;23(5):742-53. doi: 10.1007/s10897-014-9737-0. Epub 2014 Jun 24. J Genet Couns. 2014. PMID: 24954083 Free PMC article. No abstract available.
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
Harel S, Cohen AS, Hussain K, Flanagan SE, Schlade-Bartusiak K, Patel M, Courtade J, Li JB, Van Karnebeek C, Kurata H, Ellard S, Chanoine JP, Gibson WT. Harel S, et al. Among authors: gibson wt. J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):345-51. doi: 10.1515/jpem-2014-0265. J Pediatr Endocrinol Metab. 2015. PMID: 25720052 Free article.
EED-associated overgrowth in a second male patient.
Cohen AS, Gibson WT. Cohen AS, et al. Among authors: gibson wt. J Hum Genet. 2016 Sep;61(9):831-4. doi: 10.1038/jhg.2016.51. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193220
Corrigendum: A novel mutation in EED associated with overgrowth.
Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT. Cohen AS, et al. Among authors: gibson wt. J Hum Genet. 2017 Feb;62(2):341-342. doi: 10.1038/jhg.2016.156. J Hum Genet. 2017. PMID: 28119537 No abstract available.
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium; Friedman JM, Gibson WT, Horvath GA. Thibodeau ML, et al. Among authors: gibson wt. Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12. Am J Med Genet A. 2017. PMID: 28898540
Loss of maternal EED results in postnatal overgrowth.
Prokopuk L, Stringer JM, White CR, Vossen RHAM, White SJ, Cohen ASA, Gibson WT, Western PS. Prokopuk L, et al. Among authors: gibson wt. Clin Epigenetics. 2018 Jul 13;10(1):95. doi: 10.1186/s13148-018-0526-8. Clin Epigenetics. 2018. PMID: 30005706 Free PMC article.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: gibson wt. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
130 results