E-LIB Suche - Ergebnisse für: Garcia-Barcelo, Maria-Mercè

1

Whole genome sequencing reveals epistasis effects within RE..:

Wang, Yanbing ; Mak, Timothy Shin Heng ; Dattani, Saloni...
Scientific Reports. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

2

Sequencing of a Chinese tetralogy of Fallot cohort reveals ..:

Tang, Clara Sze Man ; Mononen, Mimmi ; Lam, Wai-Yee...
JCI Insight. 7 (2022) 2 - p. , 2022

Link: https://doi.org/10.1172/..

3

Identification of a wide spectrum of ciliary gene mutations..:

Lam, Wai-Yee ; Tang, Clara Sze-Man ; So, Man-Ting...
eBioMedicine. 71 (2021) - p. 103530 , 2021

Link: https://doi.org/10.1016/..

4

Size matters: Large copy number losses in Hirschsprung dise..:

Kuil, Laura E. ; MacKenzie, Katherine C. ; Tang, Clara S....
PLOS Genetics. 17 (2021) 8 - p. e1009698 , 2021

Link: https://doi.org/10.1371/..

5

A random forest-based framework for genotyping and accuracy..:

Zhuang, Xuehan ; Ye, Rui ; So, Man-Ting...
NAR Genomics and Bioinformatics. 2 (2020) 3 - p. , 2020

Link: https://doi.org/10.1093/..

6

Whole-genome analysis of noncoding genetic variations ident..:

Fu, Alexander Xi ; Lui, Kathy Nga-Chu ; Tang, Clara Sze-Man...
Genome Research. 30 (2020) 11 - p. 1618-1632 , 2020

Link: https://doi.org/10.1101/..

7

Genetics of Hirschsprung's Disease:

, In: Hirschsprung's Disease and Allied Disorders,

Tam, Paul K. H. ; Tang, Clara S. M. ; Garcia-Barceló, Maria-Mercè - p. 121-131 , 2019

Link: https://doi.org/10.1007/..

8

Exome chip association study excluded the involvement of ra..:

van de Putte, Romy ; Wijers, Charlotte H. W. ; Reutter, Heiko...
PLOS ONE. 14 (2019) 5 - p. e0217477 , 2019

Link: https://doi.org/10.1371/..

9

Uncovering the genetic lesions underlying the most severe f..:

Tang, Clara SM ; Zhuang, Xuehan ; Lam, Wai-Yee...
European Journal of Human Genetics. 26 (2018) 6 - p. 818-826 , 2018

Link: https://doi.org/10.1038/..

10

Conditional deletion of platelet derived growth factor rece..:

Qian, Chen ; Wu, Zhongluan ; Ng, Roy Chun-Laam...
Cell Death & Differentiation. 26 (2018) 8 - p. 1396-1410 , 2018

Link: https://doi.org/10.1038/..

11

De novo mutations in Caudal Type Homeo Box transcription Fa..:

Hsu, Jacob S J ; So, Manting ; Tang, Clara S M...
Human Molecular Genetics. 27 (2017) 2 - p. 351-358 , 2017

Link: https://doi.org/10.1093/..

12

Patient complexity and genotype-phenotype correlations in b..:

Cheng, Guo ; Chung, Patrick Ho-Yu ; Chan, Edwin Kin-Wai...
BMC Medical Genomics. 10 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

13

Actionable secondary findings from whole-genome sequencing ..:

Tang, Clara Sze-man ; Dattani, Saloni ; So, Man-ting...
Human Genetics. 137 (2017) 1 - p. 31-37 , 2017

Link: https://doi.org/10.1007/..

14

Inheritance-mode specific pathogenicity prioritization (ISP..:

Hsu, Jacob Shujui ; Kwan, Johnny S.H. ; Pan, Zhicheng...
Bioinformatics. 32 (2016) 20 - p. 3065-3071 , 2016

Link: https://doi.org/10.1093/..

15

Sacral agenesis: a pilot whole exome sequencing and copy nu..:

Porsch, Robert M. ; Merello, Elisa ; De Marco, Patrizia...
BMC Medical Genetics. 17 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..