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Author Details

Praveen F Cherukuri
Sanford School of Medicine, University of South Dakota
2005
29
21
PMIDPaper TitleJournal TitlePublished Year
35287663Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.BMC Med Genomics2022
35946377Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?Am J Med Genet A2022
31730267Pan-cancer RNA-seq data stratifies tumours by some hallmarks of cancer.J Cell Mol Med2020
27179618Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.Orphanet J Rare Dis2016
26602380Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.BMC Genomics2015
24628908Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines.BMC Genomics2014
24603370Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans.PLoS Genet2014
23292442Reproduction and immunity-driven natural selection in the human WFDC locus.Mol Biol Evol2013
24356879Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity.Genome Biol Evol2013
23755103Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.PLoS One2013
23453856Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).Neuromuscul Disord2013
22146942Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.Eur J Hum Genet2012
22864914Circadian changes in long noncoding RNAs in the pineal gland.Proc Natl Acad Sci U S A2012
22585771Incidental medical information in whole-exome sequencing.Pediatrics2012
22675082Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.Neurology2012
22311686An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Hum Mutat2012
21258341TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Nat Genet2011
22022284Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.PLoS Genet2011
21767969Personalized genomic medicine: lessons from the exome.Mol Genet Metab2011
21946352Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma.Nat Genet2011
21901109Predisposition to cancer caused by genetic and functional defects of mammalian Atad5.PLoS Genet2011
21900194Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation.Blood2011
20451169Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.Am J Hum Genet2010
20709904Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.Blood2010
20920668Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.Am J Hum Genet2010
19602640The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.Genome Res2009
17357158Predicting protein domain interactions from coevolution of conserved regions.Proteins2007
16949097Co-evolutionary analysis of domains in interacting proteins reveals insights into domain-domain interactions mediating protein-protein interactions.J Mol Biol2006
15608175CDD: a Conserved Domain Database for protein classification.Nucleic Acids Res2005
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Collaborators

James C Mullikin
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 22
Nancy F Hansen
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 13
Cornelius F Boerkoel
University of British Columbia
Co-authored papers 9
William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 8
Jamie K Teer
H. Lee Moffitt Cancer Center and Research Institute
Co-authored papers 7
David R Adams
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 7
Thomas C Markello
National Institutes of Health
Co-authored papers 6
Eric D Green
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 6
Alice C Young
Co-authored papers 5
Cynthia J Tifft
National Human Genome Research Institute
Co-authored papers 5
Murat Sincan
Boston University School of Public Health
Co-authored papers 5
Robert W Blakesley
Co-authored papers 5
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
Baishali Maskeri
Co-authored papers 3
Gretchen Golas
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Gerard G Bouffard
Co-authored papers 3
Dennis C Sgroi
Co-authored papers 2
Andrew E Arai
Lung and Blood Institute (NHLBI), Institutes of Health (NIH)
Co-authored papers 2
Maria J Merino
National Cancer Institute, National Institutes of Health
Co-authored papers 2
Settara C Chandrasekharappa
National Institutes of Health
Co-authored papers 2
Philip Hieter
University of British Columbia
Co-authored papers 2
Andrew G Clark
Co-authored papers 2
Daniel E Pineda-Alvarez
Invitae Corporation
Co-authored papers 2
Dimitre R Simeonov
University of California San Francisco
Co-authored papers 2
Peter J Munson
and Blood Institute, National Institutes of Health
Co-authored papers 2
Elliott H Margulies
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Valerie Maduro
NIH and National Human Genome Research Institute
Co-authored papers 2
Abdel G Elkahloun
National Human Genome Research Institute
Co-authored papers 2
Benjamin D Solomon
Co-authored papers 2
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
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