Whole-exome sequencing identified a novel mutation of BMPR2 in a Chinese family with pulmonary arterial hypertension

Arterial Hypertension ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Novel Mutation ◽

Chinese Family ◽

Whole Exome ◽

Faculty Opinions recommendation of Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718024844.793479573 ◽

2013 ◽

Author(s):

Vinicio de Jesus Perez

Keyword(s):

Arterial Hypertension ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Caveolin 1 ◽

Novel Gene ◽

Whole Exome ◽

Faculty Opinions recommendation of Whole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertension.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718340237.793496478 ◽

2014 ◽

Author(s):

YS Prakash ◽

Yvette Martin

Keyword(s):

Arterial Hypertension ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Idiopathic Pulmonary Arterial Hypertension ◽

Novel Gene ◽

Whole Exome ◽

A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension

Scientific Reports ◽

10.1038/s41598-018-37277-0 ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 7

Author(s):

Chiara Barozzi ◽

Margherita Galletti ◽

Luciana Tomasi ◽

Sara De Fanti ◽

Massimiliano Palazzini ◽

...

Keyword(s):

Heritable Pulmonary Arterial Hypertension

Arterial Hypertension ◽

Exome Sequencing ◽

Candidate Genes ◽

Whole Exome Sequencing ◽

Whole Exome ◽

Pulmonary Arterial ◽

Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension

Circulation Cardiovascular Genetics ◽

10.1161/circgenetics.111.961888 ◽

2012 ◽

Vol 5 (3) ◽

pp. 336-343 ◽

Cited By ~ 237

Author(s):

Eric D. Austin ◽

Lijiang Ma ◽

Charles LeDuc ◽

Erika Berman Rosenzweig ◽

Alain Borczuk ◽

...

Keyword(s):

Arterial Hypertension ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Caveolin 1 ◽

Novel Gene ◽

Whole Exome ◽

Genetic Insights into Pulmonary Arterial Hypertension. Application of Whole-Exome Sequencing to the Study of Pathogenic Mechanisms

American Journal of Respiratory and Critical Care Medicine ◽

10.1164/rccm.201603-0577ed ◽

2016 ◽

Vol 194 (4) ◽

pp. 393-397 ◽

Cited By ~ 8

Author(s):

Haiyang Tang ◽

Ankit A. Desai ◽

Jason X.-J. Yuan

Keyword(s):

Arterial Hypertension ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Pathogenic Mechanisms ◽

Whole Exome ◽

Whole-Exome Sequencing RevealsTopBP1as a Novel Gene in Idiopathic Pulmonary Arterial Hypertension

American Journal of Respiratory and Critical Care Medicine ◽

10.1164/rccm.201310-1749oc ◽

2014 ◽

Vol 189 (10) ◽

pp. 1260-1272 ◽

Cited By ~ 48

Author(s):

Vinicio A. de Jesus Perez ◽

Ke Yuan ◽

Maria A. Lyuksyutova ◽

Frederick Dewey ◽

Mark E. Orcholski ◽

...

Keyword(s):

Arterial Hypertension ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Idiopathic Pulmonary Arterial Hypertension ◽

Novel Gene ◽

Whole Exome ◽

Whole-Exome Sequencing and Runs of Homozygosity Identifies a Novel Mutation of DRC1 in Primary Ciliary Dyskinesia with Infertility from an Inbred Chinese Family

10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1196 ◽

2020 ◽

Author(s):

T. Guo ◽

H. Luo

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Primary Ciliary Dyskinesia ◽

Novel Mutation ◽

Chinese Family ◽

Runs Of Homozygosity ◽

Whole Exome ◽

Ciliary Dyskinesia

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Journal of Zhejiang University SCIENCE B ◽

10.1631/jzus.b1300321 ◽

2014 ◽

Vol 15 (8) ◽

pp. 727-734 ◽

Cited By ~ 8

Author(s):

Nan Hong ◽

Yan-hua Chen ◽

Chen Xie ◽

Bai-sheng Xu ◽

Hui Huang ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Novel Mutation ◽

Chinese Family ◽

Whole Exome

Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer

Acta Dermato Venereologica ◽

10.2340/00015555-3189 ◽

2019 ◽

Vol 99 (7) ◽

pp. 699-700

Author(s):

L Qu ◽

S Sha ◽

Q Zou ◽

X Gao ◽

T Xiao ◽

...

Keyword(s):

Esophageal Cancer ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Novel Mutation ◽

Chinese Family ◽

Whole Exome

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family

Clinical Genetics ◽

10.1111/j.1399-0004.2012.01895.x ◽

2013 ◽

Vol 83 (3) ◽

pp. 269-273 ◽

Cited By ~ 29

Author(s):

M Li ◽

SYY Pang ◽

Y Song ◽

MHW Kung ◽

S-L Ho ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Spinocerebellar Ataxia ◽

Novel Mutation ◽

Chinese Family ◽

Whole Exome