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1 . Academic Journal
The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity
저자
by
Meltem Ece Kars
;
Yiming Wu
;
Peter D. Stenson
;
David N. Cooper
;
Johan Burisch
, et al.
소스
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
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7 . Academic Journal
NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads
저자
by
Jiang Hu
;
Zhuo Wang
;
Zongyi Sun
;
Benxia Hu
;
Adeola Oluwakemi Ayoola
, et al.
소스
Genome Biology, Vol 25, Iss 1, Pp 1-19 (2024)
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7 . Academic Journal
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
저자
by
Mónica Lopes-Marques
;
Matthew Mort
;
João Carneiro
;
António Azevedo
;
Andreia P. Amaro
, et al.
소스
Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)
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7 . Academic Journal
The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function
저자
by
Yuepeng Hu
;
Guofu Zhang
;
Qi Yang
;
Na Pu
;
Kaiwei Li
, et al.
소스
Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date
저자
by
Guofu Zhang
;
Yuepeng Hu
;
Qi Yang
;
Na Pu
;
Gang Li
, et al.
소스
Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-18 (2023)
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7 . Academic Journal
Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization
저자
by
Siying Lin
;
Haoyang Zhang
;
Mengling Qi
;
David N. Cooper
;
Yuedong Yang
, et al.
소스
NeuroImage, Vol 279, Iss , Pp 120325- (2023)
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7 . Academic Journal
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients
저자
by
Yiming Wu
;
Kyle Gettler
;
Meltem Ece Kars
;
Mamta Giri
;
Dalin Li
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
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7 . Academic Journal
High Clinical and Genetic Similarity Between Chronic Pancreatitis Associated With Light-to-Moderate Alcohol Consumption and Classical Alcoholic Chronic Pancreatitis
저자
by
Yuan-Chen Wang
;
Wen-Bin Zou
;
Da-Hai Tang
;
Lei Wang
;
Liang-Hao Hu
, et al.
소스
Gastro Hep Advances, Vol 2, Iss 2, Pp 186-195 (2023)
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7 . Academic Journal
Expanding ACMG variant classification guidelines into a general framework
저자
by
Emmanuelle Masson
;
Wen-Bin Zou
;
Emmanuelle Génin
;
David N. Cooper
;
Gerald Le Gac
, et al.
소스
Human Genomics, Vol 16, Iss 1, Pp 1-15 (2022)
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7 . Academic Journal
Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians
저자
by
Xuehao Xiu
;
Haoyang Zhang
;
Angli Xue
;
David N. Cooper
;
Li Yan
, et al.
소스
BMC Medicine, Vol 20, Iss 1, Pp 1-16 (2022)
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