Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 10, 2018 Category: Genetics & Stem Cells Authors: Erin R.Riggs , TristanNelson , AndrewMerz , ToddAckley , BrianBunke , Christin D.Collins , Morag N.Collinson , Yao ‐ShanFan , McKinsey L.Goodenberger , Denae M.Golden , LindaHaglund‐Hazy , DanijelaKrgovic , Allen N.Lamb , Zo Source Type: research

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin ‐α2 variome and its related phenotypes
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 10, 2018 Category: Genetics & Stem Cells Authors: JorgeOliveira , AngelaGruber , M árcioCardoso , RicardoTaipa , IsabelFineza , AnaGonçalves , AndreasLaner , Thomas L.Winder , JocelynSchroeder , JulieRath , Márcia E.Oliveira , EmíliaVieira , Ana PaulaSousa , José PedroViei 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

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 10, 2018 Category: Genetics & Stem Cells Authors: Erin R.Riggs , TristanNelson , AndrewMerz , ToddAckley , BrianBunke , Christin D.Collins , Morag N.Collinson , Yao ‐ShanFan , McKinsey L.Goodenberger , Denae M.Golden , LindaHaglund‐Hazy , DanijelaKrgovic , Allen N.Lamb , Zo Source Type: research

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin ‐α2 variome and its related phenotypes
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 10, 2018 Category: Genetics & Stem Cells Authors: JorgeOliveira , AngelaGruber , M árcioCardoso , RicardoTaipa , IsabelFineza , AnaGonçalves , AndreasLaner , Thomas L.Winder , JocelynSchroeder , JulieRath , Márcia E.Oliveira , EmíliaVieira , Ana PaulaSousa , José PedroViei Source Type: research

Disruption of TWIST1 translation by 5 ′ UTR variants in Saethre‐Chotzen syndrome
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 7, 2018 Category: Genetics & Stem Cells Authors: YanZhou , NilsKoelling , Aim ée L.Fenwick , Simon J.McGowan , EduardoCalpena , Steven A.Wall , Sarah F.Smithson , Andrew O.M.Wilkie , Stephen R.F.Twigg Source Type: research

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 7, 2018 Category: Genetics & Stem Cells Authors: AlrunHotz , EmmanuelleBourrat , JuliaK üsel , VinzenzOji , SvenjaAlter , LisanneHake , MounaKorbi , HagenOtt , IngridHausser , Andreas DZimmer , JudithFischer Source Type: research

LINE ‐ and Alu‐containing genomic instability hotspotat 16q24.1 associated with recurrent and nonrecurrent CNV deletionscausative for ACDMPV
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 7, 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

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 6, 2018 Category: Genetics & Stem Cells Authors: FrancaVulinovic , VictorKrajka , Torben J.Hausrat , PhilipSeibler , DanielAlvarez ‐Fischer , HarutyunMadoev , Jin‐SungPark , Kishore R.Kumar , Carolyn M.Sue , KatjaLohmann , MatthiasKneussel , ChristineKlein , AleksandarRakovi Source Type: research

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 6, 2018 Category: Genetics & Stem Cells Authors: NicoleWeisschuh , KatarinaStingl , IsabelleAudo , SaskiaBiskup , B éatriceBocquet , KariBranham , Marie SBurstedt , ElfrideDe Baere , Meindert JDe Vries , IrinaGolovleva , AndrewGreen , JohnHeckenlively , Bart PLeroy , Isabell Source Type: research

Alu ‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 6, 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

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 6, 2018 Category: Genetics & Stem Cells Authors: FrancaVulinovic , VictorKrajka , Torben J.Hausrat , PhilipSeibler , DanielAlvarez ‐Fischer , HarutyunMadoev , Jin‐SungPark , Kishore R.Kumar , Carolyn M.Sue , KatjaLohmann , MatthiasKneussel , ChristineKlein , AleksandarRakovi Source Type: research

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 3, 2018 Category: Genetics & Stem Cells Authors: HassanVahidnezhad , LeilaYoussefian , Amir HosseinSaeidian , AndrewTouati , SoheilaSotoudeh , AliJazayeri , AlysonGuy , Patricia A.Lovell , LuLiu , ArianaKariminejad , John A.McGrath , SirousZeinali , JouniUitto Source Type: research

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next ‐generation sequencing
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 2, 2018 Category: Genetics & Stem Cells Authors: LiDong , NanWu , ShaojingWang , YananCheng , LeiHan , JingZhao , XinxinLong , KunMu , MenghuiLi , LijuanWei , WanhengWang , WeijiaZhang , YandongCao , JuntianLiu , JinpuYu , XishanHao Source Type: research

Mutant NR5A1/SF ‐1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 1, 2018 Category: Genetics & Stem Cells Authors: RajiniSreenivasan , LouisaLudbrook , BrettFisher , FaustineDeclosmenil , Kevin C.Knower , BrittanyCroft , DanielBird , JanelleRyan , AnuBashamboo , Andrew H.Sinclair , PeterKoopman , KenMcElreavey , FrancisPoulat , VincentHarley Source Type: research