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Page 1
Response to Biesecker et al.
Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA. Hamosh A, et al. Among authors: bodurtha j. Am J Hum Genet. 2021 Sep 2;108(9):1807-1808. doi: 10.1016/j.ajhg.2021.07.004. Am J Hum Genet. 2021. PMID: 34478655 Free PMC article. No abstract available.
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A. Fleming L, et al. Among authors: bodurtha j. Am J Med Genet A. 2016 Jan;170A(1):77-86. doi: 10.1002/ajmg.a.37369. Epub 2015 Sep 23. Am J Med Genet A. 2016. PMID: 26394714 Free PMC article.
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Bekheirnia MR, et al. Among authors: bodurtha j. Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22. Genet Med. 2017. PMID: 27657687 Free PMC article.
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK. Ma L, et al. Among authors: bodurtha j. Hum Genet. 2016 Dec;135(12):1399-1409. doi: 10.1007/s00439-016-1731-1. Epub 2016 Sep 28. Hum Genet. 2016. PMID: 27681385 Free PMC article.
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
Yaghmai R, Kimyai-Asadi A, Rostamiani K, Heiss NS, Poustka A, Eyaid W, Bodurtha J, Nousari HC, Hamosh A, Metzenberg A. Yaghmai R, et al. Among authors: bodurtha j. J Pediatr. 2000 Mar;136(3):390-3. doi: 10.1067/mpd.2000.104295. J Pediatr. 2000. PMID: 10700698 Free article.
Response to Laissue et al.
Press K, Bodurtha J. Press K, et al. Among authors: bodurtha j. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.63. Epub 2017 May 11. Genet Med. 2017. PMID: 28492535 Free article. No abstract available.
Human genetics education videoshare: Round One.
Benkendorf JL, Bodurtha JN. Benkendorf JL, et al. Among authors: bodurtha jn. Am J Hum Genet. 1989 Apr;44(4):611-5. Am J Hum Genet. 1989. PMID: 2648821 Free PMC article. No abstract available.
183 results