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1 . Academic Journal
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
저자
by
Emma S. Singer
;
Joshua Crowe
;
Mira Holliday
;
Julia C. Isbister
;
Sean Lal
, et al.
소스
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-7 (2023)
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7 . Academic Journal
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
저자
by
Rachel Austin
;
Jaye S. Brown
;
Sarah Casauria
;
Evanthia O. Madelli
;
Tessa Mattiske
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Full Text (ScienceDirect)
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7 .
Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage
저자
by
Jessica L. Sandy
;
Darazel Perez
;
Shuxiang Goh
;
Jonathan Forsey
;
Sulekha Rajagopalan
, et al.
소스
American Journal of Medical Genetics Part A
. 191:265-270
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7 .
The diverse pleiotropic effects of spliceosomal protein
PUF60
: A case series of Verheij syndrome
저자
by
Andrew Paul Fennell
;
Anne Elizabeth Baxter
;
Samuel Frank Berkovic
;
Carolyn Jane Ellaway
;
Caitlin Forwood
, et al.
소스
American Journal of Medical Genetics Part A
. 188:3432-3447
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7 .
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
저자
by
Elizabeth E. Palmer
;
Michael Pusch
;
Alessandra Picollo
;
Caitlin Forwood
;
Matthew H. Nguyen
, et al.
소스
Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
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7 .
MERTK retinopathy: biomarkers assessing vision loss
저자
by
Lisa Ewans
;
Dhimas Hari Sakti
;
Benjamin M. Nash
;
Afsah Zaheer
;
Peter McCluskey
, et al.
소스
Ophthalmic Genetics
. 42:706-716
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7 .
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
저자
by
Stuart M. Pitson
;
Mark A. Corbett
;
Stephen P. Robertson
;
Rebekah de Nys
;
Heidi E. Kirsch
, et al.
소스
Human Mutation
. 42:1030-1041
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7 .
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
저자
by
Adam M. Bournazos
;
Lisa G. Riley
;
Shobhana Bommireddipalli
;
Lesley Ades
;
Lauren S. Akesson
, et al.
소스
Open Access (OpenAIRE)
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7 .
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
저자
by
Lisa J. Ewans
;
Andre E. Minoche
;
Deborah Schofield
;
Rupendra Shrestha
;
Clare Puttick
, et al.
소스
European journal of human genetics : EJHG
. 30(10)
Open Access (OpenAIRE)
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7 .
Beyond the panel: preconception screening in consanguineous couples using the TruSight One 'clinical exome'
저자
by
Edwin P. Kirk
;
Velimir Gayevskiy
;
Sulekha Rajagopalan
;
Arthavan Selvanathan
;
Kristine Barlow-Stewart
, et al.
소스
Genetics in Medicine
. 21:608-612
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