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11 . Academic Journal
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
저자
by
Dennis Lal
;
Patrick May
;
Eduardo Perez-Palma
;
Kaitlin E. Samocha
;
Jack A. Kosmicki
, et al.
소스
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Open Access (DOAJ)
Open Access (BioMed Central)
Web of Science
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17 . Academic Journal
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy
저자
by
Hariharan Raju
;
James S. Ware
;
Jonathan R. Skinner
;
Paula L. Hedley
;
Gavin Arno
, et al.
소스
BMC Cardiovascular Disorders, Vol 19, Iss 1, Pp 1-10 (2019)
Open Access (DOAJ)
Open Access (BioMed Central)
Web of Science
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17 . Academic Journal
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
저자
by
Roddy Walsh
;
Francesco Mazzarotto
;
Nicola Whiffin
;
Rachel Buchan
;
William Midwinter
, et al.
소스
Genome Medicine, Vol 11, Iss 1, Pp 1-18 (2019)
Open Access (DOAJ)
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17 . Academic Journal
Genomic variant sharing: a position statement [version 2; peer review: 2 approved]
저자
by
Caroline F. Wright
;
James S. Ware
;
Anneke M. Lucassen
;
Alison Hall
;
Anna Middleton
, et al.
소스
Wellcome Open Research, Vol 4 (2019)
Open Access (DOAJ)
Scopus
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17 . Academic Journal
Ajmaline blocks INa and IKr without eliciting differences between Brugada syndrome patient and control human pluripotent stem cell-derived cardiac clusters
저자
by
Duncan C. Miller
;
Stephen C. Harmer
;
Ariel Poliandri
;
Muriel Nobles
;
Elizabeth C. Edwards
, et al.
소스
Stem Cell Research, Vol 25, Iss C, Pp 233-244 (2017)
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17 . Academic Journal
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy
저자
by
Matthias Heinig
;
Michiel E. Adriaens
;
Sebastian Schafer
;
Hanneke W. M. van Deutekom
;
Elisabeth M. Lodder
, et al.
소스
Genome Biology, Vol 18, Iss 1, Pp 1-21 (2017)
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17 . Academic Journal
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
저자
by
Nicola Whiffin
;
Konrad J. Karczewski
;
Xiaolei Zhang
;
Sonia Chothani
;
Miriam J. Smith
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
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17 . Academic Journal
Loss of RNA expression and allele-specific expression associated with congenital heart disease
저자
by
David M. McKean
;
Jason Homsy
;
Hiroko Wakimoto
;
Neil Patel
;
Joshua Gorham
, et al.
소스
Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016)
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17 . Academic Journal
Role of Targeted Therapy in Dilated Cardiomyopathy: The Challenging Road Toward a Personalized Approach
저자
by
Job A. J. Verdonschot
;
Mark R. Hazebroek
;
James S. Ware
;
Sanjay K. Prasad
;
Stephane R. B. Heymans
.
소스
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 8, Iss 11 (2019)
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Open Access (Wiley)
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17 . Academic Journal
ClinVar data parsing [version 1; referees: 2 approved]
저자
by
Xiaolei Zhang
;
Eric V. Minikel
;
Anne H. O'Donnell-Luria
;
Daniel G. MacArthur
;
James S. Ware
, et al.
소스
Wellcome Open Research, Vol 2 (2017)
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