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Front Cover, Volume 40, Issue 10.
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- Human Mutation, 2019, v. 40, n. 10, p. i, doi. 10.1002/humu.23923
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Issue Information.
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- Human Mutation, 2019, v. 40, n. 10, p. 1623, doi. 10.1002/humu.23577
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In Memoriam: Emeritus Professor Sue (Margaret Susan) Povey [1942–2019].
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- Human Mutation, 2019, v. 40, n. 10, p. 1627, doi. 10.1002/humu.23766
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Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples.
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- Human Mutation, 2019, v. 40, n. 10, p. 1630, doi. 10.1002/humu.23850
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Checklist for gene/disease‐specific variation database curators to enable ethical data management.
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- Human Mutation, 2019, v. 40, n. 10, p. 1634, doi. 10.1002/humu.23881
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Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency.
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- Human Mutation, 2019, v. 40, n. 10, p. 1641, doi. 10.1002/humu.23831
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A Vietnamese human genetic variation database.
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- Human Mutation, 2019, v. 40, n. 10, p. 1664, doi. 10.1002/humu.23835
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The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
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- Human Mutation, 2019, v. 40, n. 10, p. 1676, doi. 10.1002/humu.23828
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Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
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- Human Mutation, 2019, v. 40, n. 10, p. 1684, doi. 10.1002/humu.23833
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Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect.
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- Human Mutation, 2019, v. 40, n. 10, p. 1690, doi. 10.1002/humu.23773
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Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
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- Human Mutation, 2019, v. 40, n. 10, p. 1700, doi. 10.1002/humu.23779
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Functional classification of ATM variants in ataxia‐telangiectasia patients.
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- Human Mutation, 2019, v. 40, n. 10, p. 1713, doi. 10.1002/humu.23778
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Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
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- Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
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Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.
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- Human Mutation, 2019, v. 40, n. 10, p. 1749, doi. 10.1002/humu.23787
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Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site.
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- Human Mutation, 2019, v. 40, n. 10, p. 1760, doi. 10.1002/humu.23783
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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major.
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- Human Mutation, 2019, v. 40, n. 10, p. 1768, doi. 10.1002/humu.23817
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BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
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- Human Mutation, 2019, v. 40, n. 10, p. 1781, doi. 10.1002/humu.23804
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Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
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- Human Mutation, 2019, v. 40, n. 10, p. 1797, doi. 10.1002/humu.23792
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Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
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- Human Mutation, 2019, v. 40, n. 10, p. 1813, doi. 10.1002/humu.23793
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Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
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- Human Mutation, 2019, v. 40, n. 10, p. 1826, doi. 10.1002/humu.23799
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Disease‐associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex.
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- Human Mutation, 2019, v. 40, n. 10, p. 1841, doi. 10.1002/humu.23803
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First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts.
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- Human Mutation, 2019, v. 40, n. 10, p. 1856, doi. 10.1002/humu.23821
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Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variants.
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- Human Mutation, 2019, v. 40, n. 10, p. 1874, doi. 10.1002/humu.23827
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TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
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- Human Mutation, 2019, v. 40, n. 10, p. 1886, doi. 10.1002/humu.23834
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A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency.
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- Human Mutation, 2019, v. 40, n. 10, p. 1899, doi. 10.1002/humu.23839
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