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Page 1
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D. Zieba J, et al. Among authors: lachman rs. Sci Rep. 2017 Feb 16;7:41803. doi: 10.1038/srep41803. Sci Rep. 2017. PMID: 28205584 Free PMC article.
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS; University of Washington Center for Mendelian Genomics Consortium; Nelson SF, Cohn DH, Vallee RB, Krakow D. Taylor SP, et al. Among authors: lachman rs. Nat Commun. 2015 Jun 16;6:7092. doi: 10.1038/ncomms8092. Nat Commun. 2015. PMID: 26077881 Free PMC article.
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS. Krakow D, et al. Among authors: lachman rs. Am J Med Genet A. 2016 Oct;170(10):2652-61. doi: 10.1002/ajmg.a.37772. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240702 Free PMC article.
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics Consortium; Krakow D, Cohn DH. Zhang W, et al. Among authors: lachman rs. Hum Mol Genet. 2016 Sep 15;25(18):4012-4020. doi: 10.1093/hmg/ddw241. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466190 Free PMC article.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Among authors: lachman rs. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Barad M, Csukasi F, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I. Barad M, et al. Among authors: lachman rs. EBioMedicine. 2020 Dec;62:103075. doi: 10.1016/j.ebiom.2020.103075. Epub 2020 Nov 23. EBioMedicine. 2020. PMID: 33242826 Free PMC article.
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
Badiner N, Taylor SP, Forlenza K, Lachman RS; University of Washington Center for Mendelian Genomics; Bamshad M, Nickerson D, Cohn DH, Krakow D. Badiner N, et al. Among authors: lachman rs. Clin Genet. 2017 Aug;92(2):158-165. doi: 10.1111/cge.12947. Epub 2017 Mar 13. Clin Genet. 2017. PMID: 27925158 Free PMC article.
281 results