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