Suchergebnisse - "Ip, Eddie"

PubPharm (15)

1

Insights into the genetic architecture underlying complex, critical congenital heart disease

enthalten in: American heart journal | 2022

von Blue, G. | Ip, E. | Troup, M. | +6

2

CHDgene : A Curated Database for Congenital Heart Disease Genes

enthalten in: Circulation. Genomic and precision medicine | 2022

von Yang, A. | Alankarage, D. | Cuny, H. | +12

3

Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes

enthalten in: American heart journal | 2022

von Blue, G. | Mekel, M. | Das, D. | +14

4

Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers : Practical Implications for Clinical Application

enthalten in: Frontiers in genetics | 2022

von Ip, E. | Troup, M. | Xu, C. | +3

5

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

enthalten in: Human molecular genetics | 2020

von Martin, E. | Enriquez, A. | Sparrow, D. | +31

6

dv-trio : a family-based variant calling pipeline using DeepVariant

enthalten in: Bioinformatics (Oxford, England) | 2020

von Ip, E. | Hadinata, C. | Ho, J. | +1

7

Spliceogen : an integrative, scalable tool for the discovery of splice-altering variants

enthalten in: Bioinformatics (Oxford, England) | 2019

von Monger, S. | Troup, M. | Ip, E. | +2

8

VPOT : A Customizable Variant Prioritization Ordering Tool for Annotated Variants

enthalten in: Genomics, proteomics & bioinformatics | 2019

von Ip, E. | Chapman, G. | Winlaw, D. | +2

9

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Alankarage, D. | Ip, E. | Szot, J. | +18

10

Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease

enthalten in: American heart journal | 2018

von Blue, G. | Ip, E. | Walker, K. | +8