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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,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 17, 2018 Category: Genetics & Stem Cells Authors: FahadZadjali , AidaAl ‐Yahyaee , MaryamAl‐Nabhani , SaifAl‐Mubahesi , ArunodayaGujjar , SameerRaniga , AlmundherAl‐Maawali Source Type: research

Missense mutations have unexpected consequences: The McArdle disease paradigm
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 16, 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 , Al Source Type: research

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 16, 2018 Category: Genetics & Stem Cells Authors: AlrunHotz , EmmanuelleBourrat , JuliaK üsel , VinzenzOji , SvenjaAlter , LisanneHake , MounaKorbi , HagenOtt , IngridHausser , Andreas DZimmer , JudithFischer Source Type: research

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 14, 2018 Category: Genetics & Stem Cells Authors: RosangelaFerese , MonicaBonetti , FedericaConsoli , ValentinaGuida , AnnaSarkozy , Francesca R.Lepri , PaoloVersacci , StefanoGambardella , GiulioCalcagni , KatiaMargiotti , Francesca PiceciSparascio , HosseinHozhabri , TommasoMazz Source Type: research

Results of next ‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 12, 2018 Category: Genetics & Stem Cells Authors: ElineOverwater , LuisaMarsili , Marieke J.H.Baars , Annette F.Baas , Irmavan de Beek , EelcoDulfer , Johanna M.van Hagen , YvonneHilhorst ‐Hofstee , MarliesKempers , Ingrid P.Krapels , Leonie A.Menke , Judith M.A.Verhagen , Kak Source Type: research

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 12, 2018 Category: Genetics & Stem Cells Authors: Richard T.Wang , FlorianBarthelemy , Ann S.Martin , Emilie D.Douine , AsciaEskin , AnnLucas , JeniferLavigne , HollyPeay , NegarKhanlou , LeeSweeney , Rita M.Cantor , M. CarrieMiceli , Stanley F.Nelson Source Type: research

Cover Image, Volume 39, Issue 8
Human Mutation,Volume 39, Issue 8, Page i-i, August 2018. (Source: Human Mutation)
Source: Human Mutation - July 12, 2018 Category: Genetics & Stem Cells Authors: CarmenDiez ‐Fernandez , VéroniqueRüfenacht , CorinneGemperle , RalphFingerhut , JohannesHäberle Source Type: research

Issue Information
Human Mutation,Volume 39, Issue 8, Page 1025-1027, August 2018. (Source: Human Mutation)
Source: Human Mutation - July 12, 2018 Category: Genetics & Stem Cells Source Type: research

Cover Image, Volume 39, Issue 8
Human Mutation,Volume 39, Issue 8, Page i-i, August 2018. (Source: Human Mutation)
Source: Human Mutation - July 12, 2018 Category: Genetics & Stem Cells Authors: CarmenDiez ‐Fernandez , VéroniqueRüfenacht , CorinneGemperle , RalphFingerhut , JohannesHäberle Source Type: research

Issue Information
Human Mutation,Volume 39, Issue 8, Page 1025-1027, August 2018. (Source: Human Mutation)
Source: Human Mutation - July 12, 2018 Category: Genetics & Stem Cells Source Type: research

Results of next ‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 12, 2018 Category: Genetics & Stem Cells Authors: ElineOverwater , LuisaMarsili , Marieke J.H.Baars , Annette F.Baas , Irmavan de Beek , EelcoDulfer , Johanna M.van Hagen , YvonneHilhorst ‐Hofstee , MarliesKempers , Ingrid P.Krapels , Leonie A.Menke , Judith M.A.Verhagen , Kak Source Type: research

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 12, 2018 Category: Genetics & Stem Cells Authors: Richard T.Wang , FlorianBarthelemy , Ann S.Martin , Emilie D.Douine , AsciaEskin , AnnLucas , JeniferLavigne , HollyPeay , NegarKhanlou , LeeSweeney , Rita M.Cantor , M. CarrieMiceli , Stanley F.Nelson 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,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 11, 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.Solo Source Type: research

A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage dependent sodium channel
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 11, 2018 Category: Genetics & Stem Cells Authors: DeboraBaroni , CristianaPicco , OscarMoran Source Type: research

A characterization of post ‐zygotic mutations identified in monozygotic twins
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 6, 2018 Category: Genetics & Stem Cells Authors: Klaasjan G.Ouwens , RickJansen , BasTolhuis , P. ElineSlagboom , Brenda W.J.H.Penninx , Dorret I.Boomsma Source Type: research