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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene. PLoS One. 2016 Apr 25;11(4):e0154390. doi: 10.1371/journal.pone.0154390. eCollection 2016.
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Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.Neuromolecular Med. 2020 Mar;22(1):68-72. doi: 10.1007/s12017-019-08564-4. Epub 2019 Aug 29.
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Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.BMC Med Genet. 2014 Mar 26;15:36. doi: 10.1186/1471-2350-15-36.
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The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. doi: 10.1086/518900. Epub 2007 May 16.
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TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22.
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Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA.Transgenic Res. 2011 Dec;20(6):1293-304. doi: 10.1007/s11248-011-9496-8. Epub 2011 Feb 25.
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Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.J Child Neurol. 2017 Mar;32(4):379-386. doi: 10.1177/0883073816683083. Epub 2016 Dec 20.
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The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.Genome Res. 1999 Jun;9(6):568-74.
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