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LINE ‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 22, 2018 Category: Genetics & Stem Cells Authors: PrzemyslawSzafranski , EwelinaKo śmider , QianLiu , Justyna A.Karolak , LaurenCurrie , SandhyaParkash , Stephen G.Kahler , ElizabethRoeder , Rebecca O.Littlejohn , Thomas S.DeNapoli , Felix R.Shardonofsky , CodyHenderson , GeorgeP Source Type: research

Mutant NR5A1/SF ‐1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 22, 2018 Category: Genetics & Stem Cells Authors: RajiniSreenivasan , LouisaLudbrook , BrettFisher , FaustineDeclosmenil , Kevin C.Knower , BrittanyCroft , Anthony D.Bird , JanelleRyan , AnuBashamboo , Andrew H.Sinclair , PeterKoopman , KenMcElreavey , FrancisPoulat , Vincent R Source Type: research

Alu ‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 22, 2018 Category: Genetics & Stem Cells Authors: MariaPettersson , RaquelVaz , AnnaHammarsj ö , JesperEisfeldt , Claudia M.B.Carvalho , WolfgangHofmeister , EmmaTham , EvaHoremuzova , UlrikaVoss , GenNishimura , BoKlintberg , AnnNordgren , DanielNilsson , GiedreGrigelionien Source Type: research

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 20, 2018 Category: Genetics & Stem Cells Authors: MengWang , Keith M.Callenberg , RaymondDalgleish , AlexandreFedtsov , NaomiFox , Peter J.Freeman , Kevin B.Jacobs , PiotrKaleta , Andrew J.McMurry , AndreasPrli ć , VeenaRajaraman , Reece K.Hart Source Type: research

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 18, 2018 Category: Genetics & Stem Cells Authors: NitiKumari , AmanKumar , Babu RamThapa , ManishModi , ArnabPal , RajendraPrasad Source Type: research

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 17, 2018 Category: Genetics & Stem Cells Authors: RosellaTomanin , LitsaKarageorgos , AlessandraZanetti , MoeenaldeenAl ‐Sayed , MitchBailey , NicoleMiller , HitoshiSakuraba , John J.Hopwood Source Type: research

RheoScale: A tool to aggregate and quantify experimentally ‐determined substitution outcomes for multiple variants at individual protein positions
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 17, 2018 Category: Genetics & Stem Cells Authors: Abby M.Hodges , Aron W.Fenton , Larissa L.Dougherty , Andrew C.Overholt , LiskinSwint ‐Kruse Source Type: research

Exploring genetic modifiers of Gaucher disease: The next horizon
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 11, 2018 Category: Genetics & Stem Cells Authors: Brad A.Davidson , ShahzebHassan , Eric JoshuaGarcia , NahidTayebi , EllenSidransky Source Type: research

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 10, 2018 Category: Genetics & Stem Cells Authors: Sarah E.Brnich , Edgar A.Rivera ‐Muñoz , Jonathan S.Berg Source Type: research