Publications by authors named "Revathi Rajkumar"

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Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Alka Malhotra, Erin Thorpe, Alison J Coffey, Revathi Rajkumar, Josephine Adjeman

HGG Adv· July 2025

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Eleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, Pamela Ajuyah, Marie B Balzotti, Revathi Rajkumar

Genet Med Open· April 2025

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, Pamela Ajuyah, Marie Balzotti, Revathi Rajkumar

medRxiv· November 2024

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Development of a comprehensive cardiovascular disease genetic risk assessment test.
Laura M Amendola, Alison J Coffey, Josh Lowry, James Avecilla, Alka Malhotra, Revathi Rajkumar

medRxiv· May 2024

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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Amanda R Clause, Julie P Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett

Cell Genom· February 2023

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The genomic complexity underlying pulmonary arterial hypertension: from mendel to networks.
Revathi Rajkumar, Ferhaan Ahmad

Am J Respir Crit Care Med· May 2014

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Cellular, pharmacological, and biophysical evaluation of explanted lungs from a patient with sickle cell disease and severe pulmonary arterial hypertension.
Natasha M Rogers, Mingyi Yao, John Sembrat, M Patricia George, Heather Knupp, Revathi Rajkumar

Pulm Circ· December 2013

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Early treatment with fumagillin, an inhibitor of methionine aminopeptidase-2, prevents Pulmonary Hypertension in monocrotaline-injured rats.
Daniel J Kass, Eileen Rattigan, Rehan Kahloon, Katrina Loh, Liyang Yu, Revathi Rajkumar

PLoS One· August 2012

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Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Revathi Rajkumar, John C Sembrat, Barbara McDonough, Christine E Seidman, Ferhaan Ahmad

BMC Med Genet· March 2012

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Genomewide RNA expression profiling in lung identifies distinct signatures in idiopathic pulmonary arterial hypertension and secondary pulmonary hypertension.
Revathi Rajkumar, Kazuhisa Konishi, Thomas J Richards, David C Ishizawar, Andrew C Wiechert

Am J Physiol Heart Circ Physiol· April 2010

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Phylogeny and antiquity of M macrohaplogroup inferred from complete mt DNA sequence of Indian specific lineages.
Revathi Rajkumar, Jheelam Banerjee, Hima Bindu Gunturi, R Trivedi, V K Kashyap

BMC Evol Biol· April 2005

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Genetic structure of four socio-culturally diversified caste populations of southwest India and their affinity with related Indian and global groups.
Revathi Rajkumar, V K Kashyap

BMC Genet· August 2004

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Haplotype diversity in mitochondrial DNA hypervariable regions I and II in three communities of Southern India.
Revathi Rajkumar, V K Kashyap

Forensic Sci Int· September 2003

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Evaluation of 15 biparental STR loci in human identification and genetic study of the Kannada-speaking groups of India.
Revathi Rajkumar, V K Kashyap

Am J Forensic Med Pathol· June 2003

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Mitochondrial DNA hypervariable region I and II sequence polymorphism in the Dravidian linguistic group of India.
Revathi Rajkumar, V K Kashyap

J Forensic Sci· January 2003

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Distribution of alleles of 15 STR loci of the Powerplex 16 Multiplex system in four predominant population groups of South India.
Revathi Rajkumar, V K Kashyap

Forensic Sci Int· April 2002

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