Author

Murali M. Chakinala

Washington University in St. LouisORCID 0000-0002-3782-341XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:whole-exome sequencing· 2 Research Focus:database / resource· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adaani FrostiD· 3 shared Ankit A. DesaiiD· 3 shared Anton Vonk NoordegraafiD· 3 shared Carmen Treacy· 3 shared Carrie L. WelchiD· 3 shared Christopher J. RhodesiD· 3 shared David Gerard KielyiD· 3 shared David MontaniiD· 3 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Adaani FrostORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 5, 2023

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar…·Dmitry A. Zateyshchikov

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

83 citationstop 1%

humanstatistical model

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GeneticsGenome MedicinePeer-reviewedMay 10, 2021

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH

Na Zhu, Emilia M. Swietlik, Carrie L. Welch…·National Cohort Study of Idiopathic and Heritable PAH

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

84 citationstop 1%

humanwhole-exome sequencing

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GeneticsGenome MedicinePeer-reviewedNov 14, 2019

Novel risk genes and mechanisms implicated by exome sequencing of 2,572 individuals with pulmonary arterial hypertension

Na Zhu, Michael W. Pauciulo, Carrie L. Welch…·William C. Nichols

The paper identifies two new risk genes for idiopathic pulmonary arterial hypertension through exome sequencing of 2,572 individuals.

136 citationstop 1%

humanwhole-exome sequencing

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GeneticsThe Lancet Respiratory MedicinePeer-reviewedDec 5, 2018

Genetic determinants of risk and survival in pulmonary arterial hypertension

Christopher J. Rhodes, Ken Batai, Marta Bleda…·Quinten Waisfisz

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

212 citations

humanGWAS summary statistics

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