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Year Number of Results
2008 1
2010 1
2013 1
2014 6
2015 2
2018 1
2019 1
2020 2
2021 1
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12 results
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D. Kuechler A, et al. Among authors: hogue js. Hum Genet. 2015 Jan;134(1):97-109. doi: 10.1007/s00439-014-1498-1. Epub 2014 Oct 19. Hum Genet. 2015. PMID: 25326669
Choking and Cyanotic Episodes in a 3-month-old Male.
Paris G, Friedman NL, Hogue JS. Paris G, et al. Among authors: hogue js. Pediatr Rev. 2021 Jan;42(Suppl 1):S103-S105. doi: 10.1542/pir.2019-0227. Pediatr Rev. 2021. PMID: 33386376 No abstract available.
NRAS associated RASopathy and embryonal rhabdomyosarcoma.
Garren B, Stephan M, Hogue JS. Garren B, et al. Among authors: hogue js. Am J Med Genet A. 2020 Jan;182(1):195-200. doi: 10.1002/ajmg.a.61395. Epub 2019 Nov 7. Am J Med Genet A. 2020. PMID: 31697451
Congenital lumbar hernia-A feature of diabetic embryopathy?
Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Schrier Vergano SA. Stevens CA, et al. Among authors: hogue js. Am J Med Genet A. 2018 Nov;176(11):2243-2249. doi: 10.1002/ajmg.a.40381. Epub 2018 Oct 1. Am J Med Genet A. 2018. PMID: 30276953
Grip and percussion myotonia in myotonic dystrophy type 1.
Hughes BN, Hogue JS, Hsieh DT. Hughes BN, et al. Among authors: hogue js. J Pediatr. 2014 May;164(5):1234-1234.e1. doi: 10.1016/j.jpeds.2014.01.025. Epub 2014 Feb 20. J Pediatr. 2014. PMID: 24560185 No abstract available.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C. Marttila M, et al. Among authors: hogue js. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1. Hum Mutat. 2014. PMID: 24692096 Free PMC article.
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K. Gripp KW, et al. Among authors: hogue js. Am J Med Genet A. 2015 Feb;167A(2):271-81. doi: 10.1002/ajmg.a.36863. Epub 2014 Nov 13. Am J Med Genet A. 2015. PMID: 25394726 Free PMC article.
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