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Praveen F. Cherukuri · SciRah

Researcher profile · Semantic Scholar

Praveen F. Cherukuri

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Praveen F. Cherukuri — researcher profile on SciRah

h-index: 22
Works: 40
Citations: 3,430

Most-cited papers

CDD: a Conserved Domain Database for protein classification
A. Marchler-Bauer, John B. Anderson, Praveen F. Cherukuri, Carol DeWeese-Scott +20 more
2004Nucleic Acids Res.1,218 citations Open access
Semantic Scholar
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
E. Davis, Qi Zhang, Qin Liu, B. Diplas +43 more
2011Nature Genetics368 citations Open access
Semantic Scholar
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
T. Pierson, D. Adams, F. Bonn, P. Martinelli +17 more
2011PLoS Genetics207 citations Open access
Semantic Scholar
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
H. Mclaughlin, Reiko Sakaguchi, Cui-Ping Liu, T. Igarashi +20 more
2010American Journal of Human Genetics203 citations Open access
Semantic Scholar
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
J. Johnston, J. Teer, Praveen F. Cherukuri, N. Hansen +4 more
2010American Journal of Human Genetics163 citations Open access
Semantic Scholar
Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma
Todd D. Prickett, Xiaomu Wei, Isabel Cárdenas-Navia, J. Teer +12 more
2011Nature Genetics159 citations Open access
Semantic Scholar
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
M. Gunay-Aygun, Yifat Zivony-Elboum, F. Gumruk, D. Geiger +32 more
2010Blood149 citations Open access
Semantic Scholar
Co-evolutionary analysis of domains in interacting proteins reveals insights into domain-domain interactions mediating protein-protein interactions.
R. Jothi, Praveen F. Cherukuri, A. Tasneem, T. Przytycka
2006Journal of Molecular Biology128 citations
Semantic Scholar
Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation.
A. M. Pilon, S. Ajay, S. Kumar, Laurie A. Steiner +8 more
2011Blood112 citations Open access
Semantic Scholar
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
L. Biesecker, J. Mullikin, Flavia M. Facio, C. Turner +19 more
2009Genome Research100 citations Open access
Semantic Scholar
Predisposition to Cancer Caused by Genetic and Functional Defects of Mammalian Atad5
D. Bell, Nilabja Sikdar, Kyoo-young Lee, J. Price +30 more
2011PLoS Genetics92 citations Open access
Semantic Scholar
Circadian changes in long noncoding RNAs in the pineal gland
S. Coon, P. Munson, Praveen F. Cherukuri, D. Sugden +41 more
2012Proceedings of the National Academy of Sciences of the United States of America80 citations Open access
Semantic Scholar
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
T. Pierson, Dimitre R. Simeonov, Murat Sincan, D. Adams +11 more
2011European Journal of Human Genetics59 citations Open access
Semantic Scholar
Predicting protein domain interactions from coevolution of conserved regions
M. Kann, R. Jothi, Praveen F. Cherukuri, T. Przytycka
2007Proteins: Structure, Function, and Bioinformatics48 citations
Semantic Scholar
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
C. Dias, Murat Sincan, Praveen F. Cherukuri, R. Rupps +8 more
2012Human Mutation39 citations Open access
Semantic Scholar
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis
T. Pierson, D. Adams, T. Markello, Gretchen A. Golas +12 more
2012Neurology39 citations Open access
Semantic Scholar
Incidental Medical Information in Whole-Exome Sequencing
B. Solomon, D. Hadley, D. Pineda-Alvarez, A. Kamat +8 more
2012Pediatrics39 citations Open access
Semantic Scholar
Gene-Based Sequencing Identifies Lipid-Influencing Variants with Ethnicity-Specific Effects in African Americans
Amy R. Bentley, Guan-Jie Chen, D. Shriner, A. Doumatey +11 more
2014PLoS Genetics37 citations Open access
Semantic Scholar
Sequencing of Candidate Chromosome Instability Genes in Endometrial Cancers Reveals Somatic Mutations in ESCO1, CHTF18, and MRE11A
J. Price, Lana M. Pollock, Meghan L. Rudd, Sarah K. Fogoros +14 more
2013PLoS ONE34 citations Open access
Semantic Scholar
Pan‐cancer RNA‐seq data stratifies tumours by some hallmarks of cancer
F. G. Frost, Praveen F. Cherukuri, Samuel Milanovich, C. Boerkoel
2019Journal of Cellular and Molecular Medicine30 citations Open access
Semantic Scholar
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
T. Pierson, T. Markello, John Accardi, L. Wolfe +17 more
2013Neuromuscular Disorders30 citations Open access
Semantic Scholar
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
Valerie V. Maduro, Barbara N. Pusey, Praveen F. Cherukuri, P. Atkins +18 more
2016Orphanet Journal of Rare Diseases27 citations Open access
Semantic Scholar
Reproduction and immunity-driven natural selection in the human WFDC locus.
Zélia Ferreira, S. Seixas, Aida M. Andrés, W. Kretzschmar +7 more
2013Molecular biology and evolution22 citations Open access
Semantic Scholar
Personalized Genomic Medicine: Lessons from the Exome
B. Solomon, D. Pineda-Alvarez, D. Hadley, J. Teer +10 more
2011Molecular Genetics and Metabolism18 citations Open access
Semantic Scholar
Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines
S. Sen, J. Barb, Praveen F. Cherukuri, David S. Accame +13 more
2014BMC Genomics12 citations Open access
Semantic Scholar
Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data
Praveen F. Cherukuri, Valerie V. Maduro, K. Fuentes-Fajardo, Kevin Lam +6 more
2015BMC Genomics7 citations Open access
Semantic Scholar
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets
Praveen F. Cherukuri, Melissa M. Soe, David E. Condon, S. Bartaria +10 more
2021BMC Medical Genomics5 citations Open access
Semantic Scholar
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?
Nour Gazzaz, F. G. Frost, E. Alderman, P. Richmond +8 more
2022American Journal of Medical Genetics. Part A3 citations
Semantic Scholar
Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity
Zélia Ferreira, Belén Hurlé, Aida M. Andrés, W. Kretzschmar +10 more
2013Genome Biology and Evolution2 citations Open access
Semantic Scholar
P-B23 Prevalence of Ebola viral entry resistance in a diverse population
Praveen F. Cherukuri, T. Vilboux, Prachi Kothiyal, Aaron D. Black +6 more
20161 citations
Semantic Scholar
Systematic Identification and Definition of Consistently Well-Characterized Protein-Coding Exons Using Next Generation Sequencing Technology
Praveen F. Cherukuri, Murat Sincan, John Accardi, K. F. Fajardo +5 more
20131 citations
Semantic Scholar
G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10
K. Meilleur, T. M. Pierson, M. Jain, S. Donkervoort +16 more
20121 citations
Semantic Scholar
Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
E. Davis, Qi Zhang, Qin Liu, B. Diplas +43 more
2011Nature Genetics1 citations Open access
Semantic Scholar
Tandem splice acceptor sites: Profiling their relevance to human disease
F. G. Frost, Shaopeng Gu, Adrienne Elbert, Stéphanie Huynh +4 more
2025Genetics in Medicine0 citations Open access
Semantic Scholar
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets
Praveen F. Cherukuri, Melissa M. Soe, David E. Condon, S. Bartaria +10 more
2022BMC Medical Genomics0 citations Open access
Semantic Scholar
Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity
Zélia Ferreira, Belén Hurlé, Aida M. Andrés, Warren W. Kretzschmar +11 more
2014Genome Biology and Evolution0 citations Open access
Semantic Scholar
Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
T. Pierson, D. Adams, F. Bonn, P. Martinelli +17 more
2013PLoS Genetics0 citations Open access
Semantic Scholar
gangliosidosis 1 juvenile-onset GM Exome sequencing as a diagnostic tool in a case of undiagnosed
T. Pierson, D. Adams, T. Markello, Gretchen A. Golas +11 more
20120 citations
Semantic Scholar
Abstract 4860: Exon capture analysis of G-protein coupled receptors reveals activating mutations inGRM3in melanoma
Todd D. Prickett, Xiaomu Wei, Isabel Cárdenas-Navia, J. Teer +11 more
20120 citations
Semantic Scholar
locus assignment to chromosome 3p Gray platelet syndrome: natural history of a large patient cohort and
P. Cruz, J. Mullikin, A. Nurden, J. White +23 more
20110 citations
Semantic Scholar

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