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Homozygosity for FARSB mutation leads to Phe ‐tRNA synthetase‐related disease of growth restriction, brain calcification, and interstitial lung disease
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 30, 2018 Category: Genetics & Stem Cells Authors: FahadZadjali , AidaAl ‐Yahyaee , MaryamAl‐Nabhani , SaifAl‐Mubaihsi , ArunodayaGujjar , SameerRaniga , AlmundherAl‐Maawali Source Type: research

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 30, 2018 Category: Genetics & Stem Cells Authors: RosangelaFerese , MonicaBonetti , FedericaConsoli , ValentinaGuida , AnnaSarkozy , Francesca RomanaLepri , PaoloVersacci , StefanoGambardella , GiulioCalcagni , KatiaMargiotti , FrancescaPiceci Sparascio , HosseinHozhabri , Tommaso Source Type: research

A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage ‐dependent sodium channel
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 30, 2018 Category: Genetics & Stem Cells Authors: DeboraBaroni , CristianaPicco , OscarMoran Source Type: research

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 30, 2018 Category: Genetics & Stem Cells Authors: BurcuTurkgenc , BurcinSanlidag , AmberEker , AsliGiray , OzgurKutuk , CengizYakicier , Asl ıhanTolun , Sehime GTemel Source Type: research

A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage ‐dependent sodium channel
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 30, 2018 Category: Genetics & Stem Cells Authors: DeboraBaroni , CristianaPicco , OscarMoran Source Type: research

LAMA2 gene mutation update: Towards a more comprehensive picture of the laminin ‐α2 variome and its related phenotypes
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 28, 2018 Category: Genetics & Stem Cells Authors: JorgeOliveira , AngelaGruber , M árcioCardoso , RicardoTaipa , IsabelFineza , AnaGonçalves , AndreasLaner , Thomas L.Winder , JocelynSchroeder , JulieRath , MárciaOliveira , EmíliaVieira , Ana PaulaSousa , José PedroVieira Source Type: research

Missense mutations have unexpected consequences: The McArdle disease paradigm
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 27, 2018 Category: Genetics & Stem Cells Authors: In ésGarcía‐Consuegra , SaraAsensio‐Peña , AlfonsinaBallester‐Lopez , RosarioFrancisco‐Velilla , TomásPinos , GuillemPintos‐Morell , JaumeColl‐Cantí , AdriánGonzález‐Quintana , Antoni L.Andreu , JoaquínArenas , A Source Type: research

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF ‐β, hedgehog, and FGF signaling
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 27, 2018 Category: Genetics & Stem Cells Authors: ErichRoessler , PingHu , JulianaMarino , SungkookHong , RachelHart , SethBerger , ArielMartinez , YuAbe , PaulKruszka , James W.Thomas , James C.Mullikin , , YupengWang , Wendy S.W.Wong , John E.Niederhuber , Benjamin D.Sol Source Type: research

Rare RELN variants affect Reelin –DAB1 signal transduction in autism spectrum disorder
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 27, 2018 Category: Genetics & Stem Cells Authors: SandraM. S ánchez‐Sánchez , JulianaMagdalon , KarinaGriesi‐Oliveira , GuilhermeL. Yamamoto , CarolinaSantacruz‐Perez , MarianaFogo , Maria RitaPassos‐Bueno , AndreaL. Sertié Source Type: research

Disruption of TWIST1 translation by 5 ′ UTR variants in Saethre‐Chotzen syndrome
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 24, 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

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next ‐generation sequencing
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 24, 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

A characterization of postzygotic mutations identified in monozygotic twins
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 18, 2018 Category: Genetics & Stem Cells Authors: Klaasjan G.Ouwens , RickJansen , BasTolhuis , P. ElineSlagboom , Brenda W.J.H.Penninx , Dorret I.Boomsma 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,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 17, 2018 Category: Genetics & Stem Cells Authors: HassanVahidnezhad , LeilaYoussefian , Amir HosseinSaeidian , AndrewTouati , SoheilaSotoudeh , AliJazayeri , AlysonGuy , Patricia ALovell , LuLiu , ArianaKariminejad , John A.McGrath , SirousZeinali , JouniUitto Source Type: research