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Saurabh Baheti
Saurabh Baheti
Principal Bioinformatician, Mayo Clinic
Verified email at mayo.edu
Title
Cited by
Cited by
Year
REVEL: an ensemble method for predicting the pathogenicity of rare missense variants
NM Ioannidis, JH Rothstein, V Pejaver, S Middha, SK McDonnell, ...
The American Journal of Human Genetics 99 (4), 877-885, 2016
17692016
Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease
B Porath, VG Gainullin, E Cornec-Le Gall, EK Dillinger, CM Heyer, ...
The American Journal of Human Genetics 98 (6), 1193-1207, 2016
465*2016
MAP-RSeq: Mayo analysis pipeline for RNA sequencing
KR Kalari, AA Nair, JD Bhavsar, DR O’Brien, JI Davila, MA Bockol, J Nie, ...
BMC bioinformatics 15, 1-11, 2014
3182014
Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease
E Cornec-Le Gall, RJ Olson, W Besse, CM Heyer, VG Gainullin, JM Smith, ...
The American Journal of Human Genetics 102 (5), 832-844, 2018
2802018
Genome-wide detection of tandem DNA repeats that are expanded in autism
B Trost, W Engchuan, CM Nguyen, B Thiruvahindrapuram, E Dolzhenko, ...
Nature 586 (7827), 80-86, 2020
1642020
Sentieon DNASeq variant calling workflow demonstrates strong computational performance and accuracy
KI Kendig, S Baheti, MA Bockol, TM Drucker, SN Hart, JR Heldenbrand, ...
Frontiers in genetics 10, 736, 2019
1392019
New DNA methylation markers for pancreatic cancer: discovery, tissue validation, and pilot testing in pancreatic juice
JB Kisiel, M Raimondo, WR Taylor, TC Yab, DW Mahoney, Z Sun, ...
Clinical cancer research 21 (19), 4473-4481, 2015
1282015
Molecular profiling reveals immunogenic cues in anaplastic large cell lymphomas with DUSP22 rearrangements
RA Luchtel, S Dasari, N Oishi, MB Pedersen, G Hu, KL Rech, ...
Blood, The Journal of the American Society of Hematology 132 (13), 1386-1398, 2018
1122018
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E
Z Sun, Y Wu, T Ordog, S Baheti, J Nie, X Duan, K Hojo, JP Kocher, ...
Epigenetics 9 (8), 0--1, 2014
752014
TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data
YW Asmann, S Middha, A Hossain, S Baheti, Y Li, HS Chai, Z Sun, ...
Bioinformatics 28 (2), 277-278, 2012
752012
Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set
SN Thibodeau, AJ French, SK McDonnell, J Cheville, S Middha, ...
Nature communications 6 (1), 8653, 2015
742015
DNA methylation profiling: comparison of genome-wide sequencing methods and the Infinium Human Methylation 450 Bead Chip
DL Walker, AV Bhagwate, S Baheti, RL Smalley, CA Hilker, Z Sun, ...
Epigenomics 7 (8), 1287-1302, 2015
642015
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy
W Wang, C Wang, DB Dawson, EC Thorland, PA Lundquist, BW Eckloff, ...
Neurology 86 (19), 1762-1771, 2016
632016
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease
K Hopp, E Cornec-Le Gall, SR Senum, IBAW Te Paske, S Raj, S Lavu, ...
Kidney international 97 (2), 370-382, 2020
602020
The role of the histone methyltransferase enhancer of zeste homolog 2 (EZH2) in the pathobiological mechanisms underlying inflammatory bowel disease (IBD)
OF Sarmento, PA Svingen, Y Xiong, Z Sun, AO Bamidele, AJ Mathison, ...
Journal of Biological Chemistry 292 (2), 706-722, 2017
602017
SAAP-RRBS: streamlined analysis and annotation pipeline for reduced representation bisulfite sequencing
Z Sun, S Baheti, S Middha, R Kanwar, Y Zhang, X Li, AS Beutler, E Klee, ...
Bioinformatics 28 (16), 2180-2181, 2012
602012
SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations
SN Hart, V Sarangi, R Moore, S Baheti, JD Bhavsar, FJ Couch, ...
PloS one 8 (12), e83356, 2013
562013
Deep sequence analysis of non-small cell lung cancer: integrated analysis of gene expression, alternative splicing, and single nucleotide variations in lung adenocarcinomas …
KR Kalari, D Rossell, BM Necela, YW Asmann, A Nair, S Baheti, ...
Frontiers in oncology 2, 12, 2012
552012
Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci
M Allen, JD Burgess, T Ballard, D Serie, X Wang, CS Younkin, Z Sun, ...
Acta neuropathologica 132, 197-211, 2016
532016
TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer
J Chien, H Sicotte, JB Fan, S Humphray, JM Cunningham, KR Kalli, ...
Nucleic acids research 43 (14), 6945-6958, 2015
532015
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