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Page 1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics; University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37457373 Free PMC article.
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Marneros AG, et al. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541344 Free PMC article.
Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Pioner JM, Racca AW, Klaiman JM, Yang KC, Guan X, Pabon L, Muskheli V, Zaunbrecher R, Macadangdang J, Jeong MY, Mack DL, Childers MK, Kim DH, Tesi C, Poggesi C, Murry CE, Regnier M. Pioner JM, et al. Stem Cell Reports. 2016 Jun 14;6(6):885-896. doi: 10.1016/j.stemcr.2016.04.006. Epub 2016 May 5. Stem Cell Reports. 2016. PMID: 27161364 Free PMC article.
Contractile properties of developing human fetal cardiac muscle.
Racca AW, Klaiman JM, Pioner JM, Cheng Y, Beck AE, Moussavi-Harami F, Bamshad MJ, Regnier M. Racca AW, et al. J Physiol. 2016 Jan 15;594(2):437-52. doi: 10.1113/JP271290. Epub 2015 Dec 7. J Physiol. 2016. PMID: 26460603 Free PMC article.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. McMillin MJ, et al. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261301 Free PMC article.
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ. Beck AE, et al. Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401156 Free PMC article.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Amrani FA, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. medRxiv [Preprint]. 2023 Mar 9:2023.03.07.23286862. doi: 10.1101/2023.03.07.23286862. medRxiv. 2023. Update in: HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. PMID: 36945405 Free PMC article. Updated. Preprint.
34 results