Sumit Middha, Ph.D. - Publications

Affiliations: 
2014 Biomedical Informatics and Computational Biology University of Minnesota, Twin Cities, Minneapolis, MN 

87 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Gupta S, Vanderbilt C, Lin YT, Benhamida JK, Jungbluth AA, Rana S, Boroujeni AM, Chang JC, Mcfarlane T, Salazar P, Mullaney K, Middha S, Zehir A, Gopalan A, Bale TA, et al. A Pan-Cancer Study of Somatic TERT Promoter Mutations and Amplification in 30,773 Tumors Profiled By Clinical Genomic Sequencing. The Journal of Molecular Diagnostics : Jmd. PMID 33285287 DOI: 10.1016/j.jmoldx.2020.11.003  0.328
2019 Hechtman JF, Rana S, Middha S, Stadler ZK, Latham A, Benayed R, Soslow R, Ladanyi M, Yaeger R, Zehir A, Shia J. Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 31857677 DOI: 10.1038/S41379-019-0414-6  0.344
2019 Suehara Y, Alex D, Bowman AS, Middha S, Zehir A, Chakravarty D, Wang L, Jour G, Nafa K, Hayashi T, Jungbluth AA, Frosina D, Slotkin EK, Shukla NN, Meyers PA, et al. Clinical genomic sequencing of pediatric and adult osteosarcoma reveals distinct molecular subsets with potentially targetable alterations. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 31175097 DOI: 10.1158/1078-0432.Ccr-18-4032  0.361
2019 Mandal R, Samstein RM, Lee KW, Havel JJ, Wang H, Krishna C, Sabio EY, Makarov V, Kuo F, Blecua P, Ramaswamy AT, Durham JN, Bartlett B, Ma X, Srivastava R, ... Middha S, et al. Genetic diversity of tumors with mismatch repair deficiency influences anti-PD-1 immunotherapy response. Science (New York, N.Y.). 364: 485-491. PMID 31048490 DOI: 10.1126/Science.Aau0447  0.336
2018 Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, et al. Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. JCO1800283. PMID 30376427 DOI: 10.1200/Jco.18.00283  0.317
2018 Razavi P, Chang MT, Xu G, Bandlamudi C, Ross DS, Vasan N, Cai Y, Bielski CM, Donoghue MTA, Jonsson P, Penson A, Shen R, Pareja F, Kundra R, Middha S, et al. The Genomic Landscape of Endocrine-Resistant Advanced Breast Cancers. Cancer Cell. 34: 427-438.e6. PMID 30205045 DOI: 10.1016/J.Ccell.2018.08.008  0.366
2018 Hechtman JF, Abou Alfa GK, Stadler ZK, Mandelker DL, Roehrl MHA, Zehir A, Vakiani E, Middha S, Klimstra DS, Shia J. Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA. Human Pathology. PMID 30121369 DOI: 10.1016/J.Humpath.2018.08.004  0.319
2018 Soumerai TE, Donoghue MTA, Bandlamudi C, Srinivasan P, Chang MT, Zamarin D, Cadoo K, Grisham R, O'Cearbhaill RE, Tew W, Konner J, Hensley ML, Makker V, Sabbatini PJ, Spriggs DR, ... ... Middha S, et al. CLINICAL UTILITY OF PROSPECTIVE MOLECULAR CHARACTERIZATION IN ADVANCED ENDOMETRIAL CANCER. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 30068706 DOI: 10.1158/1078-0432.Ccr-18-0412  0.309
2018 Fan PD, Narzisi G, Jayaprakash AD, Venturini E, Robine N, Smibert P, Germer S, Yu HA, Jordan EJ, Paik PK, Janjigian YY, Chaft JE, Wang L, Jungbluth AA, Middha S, et al. amplification is a mechanism of acquired resistance to EGFR inhibitors identified by transposon mutagenesis and clinical genomics. Proceedings of the National Academy of Sciences of the United States of America. PMID 29875142 DOI: 10.1073/Pnas.1717782115  0.328
2018 Scheid AD, Van Keulen VP, Felts SJ, Neier SC, Middha S, Nair AA, Techentin RW, Gilbert BK, Jen J, Neuhauser C, Zhang Y, Pease LR. Gene Expression Signatures Characterized by Longitudinal Stability and Interindividual Variability Delineate Baseline Phenotypic Groups with Distinct Responses to Immune Stimulation. Journal of Immunology (Baltimore, Md. : 1950). PMID 29352003 DOI: 10.4049/Jimmunol.1701099  0.577
2018 Yaeger R, Chatila WK, Lipsyc MD, Hechtman JF, Cercek A, Sanchez-Vega F, Jayakumaran G, Middha S, Zehir A, Donoghue MTA, You D, Viale A, Kemeny N, Segal NH, Stadler ZK, et al. Clinical Sequencing Defines the Genomic Landscape of Metastatic Colorectal Cancer. Cancer Cell. 33: 125-136.e3. PMID 29316426 DOI: 10.1016/J.Ccell.2017.12.004  0.396
2018 Latham Schwark A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Dubard-Gault M, Tran C, Middha S, Hechtman JF, Penson A, Varghese AM, Zhang L, Robson ME, Solit DB, et al. Pan-cancer microsatellite instability to predict for presence of Lynch syndrome. Journal of Clinical Oncology. 36: LBA1509-LBA1509. DOI: 10.1200/Jco.2018.36.18_Suppl.Lba1509  0.317
2018 Srinivasan P, Tran C, Reichel J, Patel JA, Hasan M, Meng F, Jing X, Middha S, Zehir A, Yaeger RD, Reidy D, Tsui D, Stadler Z, Berger MF. Abstract 3656: Detecting MSI in plasma: Implications for early detection of lynch associated tumors Cancer Research. 78: 3656-3656. DOI: 10.1158/1538-7445.Am2018-3656  0.367
2018 DeLair D, Fix D, Middha S, Park KJ, Chiang S, Murali R, Cadoo KA, Makker V, Aghajanian CA, Mueller JJ, Leitao MM, Soslow RA, Abu-Rustum NR, Weigelt B. Classification of prospectively collected endometrial cancers into prognostically relevant subgroups using massively parallel sequencing and immunohistochemistry Gynecologic Oncology. 149: 172. DOI: 10.1016/J.Ygyno.2018.04.391  0.338
2017 Janjigian YY, Sanchez-Vega F, Jonsson P, Chatila WK, Hechtman JF, Ku GY, Riches JC, Tuvy Y, Kundra R, Bouvier N, Vakiani E, Gao J, Heins ZJ, Gross BE, Kelsen DP, ... ... Middha S, et al. Genetic predictors of response to systemic therapy in esophagogastric cancer. Cancer Discovery. PMID 29122777 DOI: 10.1158/2159-8290.Cd-17-0787  0.353
2017 DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, et al. Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Molecular Genetics & Genomic Medicine. 5: 553-569. PMID 28944238 DOI: 10.1002/Mgg3.317  0.389
2017 Wang L, Basturk O, Wang J, Benayed R, Middha S, Zehir A, Linkov I, Rao M, Aryeequaye R, Cao L, Chmielecki J, Ross J, Stephens PJ, Adsay V, Askan G, et al. A FISH assay efficiently screens for BRAF gene rearrangements in pancreatic acinar-type neoplasms. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 28884748 DOI: 10.1038/Modpathol.2017.106  0.367
2017 DeLair DF, Burke KA, Selenica P, Lim RS, Scott SN, Middha S, Mohanty AS, Cheng DT, Berger MF, Soslow RA, Weigelt B. The genetic landscape of endometrial clear cell carcinomas. The Journal of Pathology. PMID 28718916 DOI: 10.1002/Path.4947  0.406
2017 Ibrahimpasic T, Xu B, Landa I, Dogan S, Middha S, Seshan V, Deraje Vasudeva S, Carlson D, Migliacci J, Knauf JA, Untch BR, Berger MF, Morris LG, Tuttle RM, Chan TA, et al. Genomic alterations in fatal forms of non-anaplastic thyroid cancer: Identification of MED12 and RBM10 as novel thyroid cancer genes associated with tumor virulence. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 28634282 DOI: 10.1158/1078-0432.Ccr-17-1183  0.372
2017 Zehir A, Benayed R, Shah RH, Syed A, Middha S, Kim HR, Srinivasan P, Gao J, Chakravarty D, Devlin SM, Hellmann MD, Barron DA, Schram AM, Hameed M, Dogan S, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nature Medicine. PMID 28481359 DOI: 10.1038/Nm.4333  0.418
2017 Hechtman JF, Middha S, Stadler ZK, Zehir A, Berger MF, Vakiani E, Weiser MR, Ladanyi M, Saltz LB, Klimstra DS, Shia J. Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations. Familial Cancer. PMID 28405781 DOI: 10.1007/S10689-017-9993-X  0.309
2017 Ptashkin RN, Pagan C, Yaeger R, Middha S, Shia J, O'Rourke KP, Berger MF, Wang L, Cimera R, Wang J, Klimstra DS, Saltz L, Ladanyi M, Zehir A, Hechtman JF. Chromosome 20q Amplification Defines a Subtype of Microsatellite Stable, Left-sided Colon Cancers with Wild-type RAS/RAF and Better Overall Survival. Molecular Cancer Research : McR. PMID 28184012 DOI: 10.1158/1541-7786.Mcr-16-0352  0.316
2017 Iyer G, Audenet F, Middha S, Carlo MI, Regazzi AM, Funt S, Al-Ahmadie H, Solit DB, Rosenberg JE, Bajorin DF. Mismatch repair (MMR) detection in urothelial carcinoma (UC) and correlation with immune checkpoint blockade (ICB) response. Journal of Clinical Oncology. 35: 4511-4511. DOI: 10.1200/Jco.2017.35.15_Suppl.4511  0.357
2017 Yaeger R, Chatila W, Lipsyc M, Sanchez-Vega F, Hechtman JF, Cercek A, Stadler ZK, Middha S, Kundra R, Syed A, Zehir A, Varghese AM, Segal NH, Vakiani E, Ladanyi M, et al. Variability in genomic alterations between right- and left-sided microsatellite stable (MSS) metastatic colorectal cancer and impact on survival. Journal of Clinical Oncology. 35: 3534-3534. DOI: 10.1200/Jco.2017.35.15_Suppl.3534  0.309
2017 Lipsyc M, Chatila W, Hechtman JF, Sanchez-Vega F, Middha S, Cercek A, Stadler Z, Kundra R, Syed A, Hyman DM, Zehir A, Shahrokni A, Varghese A, Reidy D, Segal NH, et al. Abstract 4380: Integrative genomics analysis of metastatic colorectal cancer Cancer Research. 77: 4380-4380. DOI: 10.1158/1538-7445.Am2017-4380  0.38
2016 Shia J, Schultz N, Kuk D, Vakiani E, Middha S, Segal NH, Hechtman JF, Berger MF, Stadler ZK, Weiser MR, Wolchok JD, Boland CR, Gönen M, Klimstra DS. Morphological characterization of colorectal cancers in The Cancer Genome Atlas reveals distinct morphology-molecular associations: clinical and biological implications. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 27982025 DOI: 10.1038/Modpathol.2016.198  0.42
2016 Karyadi DM, Geybels MS, Karlins E, Decker B, McIntosh L, Hutchinson A, Kolb S, McDonnell SK, Hicks B, Middha S, FitzGerald LM, DeRycke MS, Yeager M, Schaid DJ, Chanock SJ, et al. Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes. Oncotarget. PMID 27902461 DOI: 10.18632/Oncotarget.13646  0.351
2016 Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, et al. REVEL: an Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. American Journal of Human Genetics. PMID 27666373 DOI: 10.1016/J.Ajhg.2016.08.016  0.342
2016 Hoang LN, Aneja A, Conlon N, Delair DF, Middha S, Benayed R, Hensley ML, Park KJ, Hollmann TJ, Hameed MR, Antonescu CR, Soslow RA, Chiang S. Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma. The American Journal of Surgical Pathology. PMID 27631520 DOI: 10.1097/Pas.0000000000000721  0.379
2016 Tian SK, Killian JK, Rekhtman N, Benayed R, Middha S, Ladanyi M, Lin O, Arcila ME. Optimizing Workflows and Processing of Cytologic Samples for Comprehensive Analysis by Next-Generation Sequencing: Memorial Sloan Kettering Cancer Center Experience. Archives of Pathology & Laboratory Medicine. PMID 27588332 DOI: 10.5858/Arpa.2016-0108-Ra  0.332
2016 Javier BM, Yaeger R, Wang L, Sanchez-Vega F, Zehir A, Middha S, Sadowska J, Vakiani E, Shia J, Klimstra D, Ladanyi M, Iacobuzio-Donahue CA, Hechtman JF. Recurrent, truncating Sox9 mutations are associated with sox9 overexpression, KRAS mutation, and TP53 wild type status in colorectal carcinoma. Oncotarget. PMID 27248473 DOI: 10.18632/Oncotarget.9682  0.344
2016 Stadler ZK, Battaglin F, Middha S, Hechtman JF, Tran C, Cercek A, Yaeger R, Segal NH, Varghese AM, Reidy-Lagunes DL, Kemeny NE, Salo-Mullen EE, Ashraf A, Weiser MR, Garcia-Aguilar J, et al. Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. PMID 27022117 DOI: 10.1200/Jco.2015.65.1067  0.385
2016 Ganesh K, Middha S, Hechtman JF, Ashraf A, Tran C, Villano D, Yaeger RD, Segal NH, Cercek A, Varghese AM, Reidy DL, Kemeny NE, Vijai J, Robson ME, Offit K, et al. Somatic tumor profiling of DNA mismatch repair deficient (MMR-D) colorectal cancers (CRC). Journal of Clinical Oncology. 34: 1528-1528. DOI: 10.1200/Jco.2016.34.15_Suppl.1528  0.378
2016 Cropp CD, McDonnell SK, Middha S, DeRycke M, Karyadi DM, Schaid D, Thibodeau SN, Isaacs WB, Ostrander EA, Stanford J, Cooney KA, Bailey-Wilson JE, Carpten JD. Abstract B40: Rare variant discovery in known cancer genes from whole-exome sequencingof African American hereditary prostate cancer families Cancer Epidemiology, Biomarkers & Prevention. 25. DOI: 10.1158/1538-7755.Disp15-B40  0.351
2016 Razavi P, Chang MT, Middha S, Ross DS, Zehir A, Proverbs-Singh TA, Kandoth C, Chandarlapaty S, Dickler MN, Reis-Filho JS, Patil S, Seshan V, Smyth L, Iyengar NM, Jhaveri K, et al. Abstract 4509: Clinical genomic profiling of 1000 metastatic breast cancer patients: actionable targets, novel alterations, and clinical correlations Cancer Research. 76: 4509-4509. DOI: 10.1158/1538-7445.Am2016-4509  0.39
2016 Coombs C, Zehir A, Devlin S, Middha S, Cheng D, Kishtagari A, Hyman D, Solit D, Robson M, Baselga J, Arcila M, Tallman M, Levine R, Berger M. Abstract 2640: Clonal hematopoiesis identified by matched-normal blood sequencing of solid tumor patients without hematologic malignancy is common and is associated with decreased overall survival Epidemiology. 76: 2640-2640. DOI: 10.1158/1538-7445.Am2016-2640  0.324
2015 Hechtman JF, Zehir A, Yaeger RD, Wang L, Middha S, Zheng T, Hyman D, Solit D, Arcila ME, Borsu L, Shia J, Vakiani E, Saltz L, Ladanyi M. Identification of Targetable Kinase Alterations in Patients with Colorectal Carcinoma that are Preferentially Associated with Wild Type RAS/RAF. Molecular Cancer Research : McR. PMID 26660078 DOI: 10.1158/1541-7786.Mcr-15-0392-T  0.338
2015 Thibodeau SN, French AJ, McDonnell SK, Cheville J, Middha S, Tillmans L, Riska S, Baheti S, Larson MC, Fogarty Z, Zhang Y, Larson N, Nair A, O'Brien D, Wang L, et al. Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set. Nature Communications. 6: 8653. PMID 26611117 DOI: 10.1038/Ncomms9653  0.321
2015 Middha S, Lindor NM, McDonnell SK, Olson JE, Johnson KJ, Wieben ED, Farrugia G, Cerhan JR, Thibodeau SN. How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples. Frontiers in Genetics. 6: 244. PMID 26257771 DOI: 10.3389/Fgene.2015.00244  0.304
2015 Felts SJ, Van Keulen VP, Scheid AD, Allen KS, Bradshaw RK, Jen J, Peikert T, Middha S, Zhang Y, Block MS, Markovic SN, Pease LR. Gene expression patterns in CD4+ peripheral blood cells in healthy subjects and stage IV melanoma patients. Cancer Immunology, Immunotherapy : Cii. PMID 26245876 DOI: 10.1007/S00262-015-1745-X  0.318
2015 Kisiel JB, Raimondo M, Taylor W, Yab TC, Mahoney DW, Sun Z, Middha S, Baheti S, Zou H, Smyrk TC, Boardman LA, Petersen GM, Ahlquist DA. New DNA Methylation Markers for Pancreatic Cancer: Discovery, Tissue Validation, and Pilot Testing in Pancreatic Juice. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 26023084 DOI: 10.1158/1078-0432.Ccr-14-2469  0.306
2015 Larson NB, McDonnell S, French AJ, Fogarty Z, Cheville J, Middha S, Riska S, Baheti S, Nair AA, Wang L, Schaid DJ, Thibodeau SN. Comprehensively Evaluating cis-Regulatory Variation in the Human Prostate Transcriptome by Using Gene-Level Allele-Specific Expression. American Journal of Human Genetics. 96: 869-82. PMID 25983244 DOI: 10.1016/J.Ajhg.2015.04.015  0.337
2015 Altmann HM, Tester DJ, Will ML, Middha S, Evans JM, Eckloff BW, Ackerman MJ. Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. Circulation. 131: 2051-60. PMID 25922419 DOI: 10.1161/Circulationaha.115.015397  0.371
2015 Mazzone A, Gibbons SJ, Bernard CE, Nowsheen S, Middha S, Almada LL, Ordog T, Kendrick ML, Reid Lombardo KM, Shen KR, Galietta LJ, Fernandez-Zapico ME, Farrugia G. Identification and characterization of a novel promoter for the human ANO1 gene regulated by the transcription factor signal transducer and activator of transcription 6 (STAT6). Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 29: 152-63. PMID 25351986 DOI: 10.1096/Fj.14-258541  0.303
2015 Coombs CC, Zehir A, Devlin S, Middha S, Cheng D, Kishtagari A, Hyman DM, Solit D, Robson M, Baselga J, Arcila M, Ladanyi M, Tallman MS, Levine RL, Berger M. Next-Generation Sequencing of Matched Normal Blood Identifies Clonal Hematopoiesis in a Significant Subset of Solid Tumor Patients without Hematologic Malignancies Blood. 126: 2447-2447. DOI: 10.1182/Blood.V126.23.2447.2447  0.388
2014 Wieben ED, Aleff RA, Eckloff BW, Atkinson EJ, Baheti S, Middha S, Brown WL, Patel SV, Kocher JP, Baratz KH. Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy. Investigative Ophthalmology & Visual Science. 55: 6101-7. PMID 25168903 DOI: 10.1167/Iovs.14-14958  0.36
2014 Goodloe AH, Evans JM, Middha S, Prasad A, Olson TM. Characterizing genetic variation of adrenergic signalling pathways in Takotsubo (stress) cardiomyopathy exomes. European Journal of Heart Failure. 16: 942-9. PMID 25132214 DOI: 10.1002/Ejhf.145  0.353
2014 Yan H, Evans J, Kalmbach M, Moore R, Middha S, Luban S, Wang L, Bhagwate A, Li Y, Sun Z, Chen X, Kocher JP. HiChIP: a high-throughput pipeline for integrative analysis of ChIP-Seq data. Bmc Bioinformatics. 15: 280. PMID 25128017 DOI: 10.1186/1471-2105-15-280  0.3
2014 Johnson AM, Zuhlke KA, Plotts C, McDonnell SK, Middha S, Riska SM, Schaid DJ, Thibodeau SN, Douglas JA, Cooney KA. Mutational landscape of candidate genes in familial prostate cancer. The Prostate. 74: 1371-8. PMID 25111073 DOI: 10.1002/Pros.22849  0.349
2014 Kalari KR, Nair AA, Bhavsar JD, O'Brien DR, Davila JI, Bockol MA, Nie J, Tang X, Baheti S, Doughty JB, Middha S, Sicotte H, Thompson AE, Asmann YW, Kocher JP. MAP-RSeq: Mayo Analysis Pipeline for RNA sequencing. Bmc Bioinformatics. 15: 224. PMID 24972667 DOI: 10.1186/1471-2105-15-224  0.332
2014 Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM. TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. Human Molecular Genetics. 23: 5793-804. PMID 24925317 DOI: 10.1093/Hmg/Ddu297  0.339
2014 Klein CJ, Middha S, Duan X, Wu Y, Litchy WJ, Gu W, Dyck PJ, Gavrilova RH, Smith DI, Kocher JP, Dyck PJ. Application of whole exome sequencing in undiagnosed inherited polyneuropathies. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 1265-72. PMID 24604904 DOI: 10.1136/Jnnp-2013-306740  0.4
2014 Borad MJ, Champion MD, Egan JB, Liang WS, Fonseca R, Bryce AH, McCullough AE, Barrett MT, Hunt K, Patel MD, Young SW, Collins JM, Silva AC, Condjella RM, Block M, ... ... Middha S, et al. Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma. Plos Genetics. 10: e1004135. PMID 24550739 DOI: 10.1371/Journal.Pgen.1004135  0.393
2014 Egan JB, Barrett MT, Champion MD, Middha S, Lenkiewicz E, Evers L, Francis P, Schmidt J, Shi CX, Van Wier S, Badar S, Ahmann G, Kortuem KM, Boczek NJ, Fonseca R, et al. Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements. Plos One. 9: e87113. PMID 24505276 DOI: 10.1371/Journal.Pone.0087113  0.38
2014 Middha S, Baheti S, Hart SN, Kocher JP. From days to hours: reporting clinically actionable variants from whole genome sequencing. Plos One. 9: e86803. PMID 24505267 DOI: 10.1371/Journal.Pone.0086803  0.351
2014 Feldman AL, Vasmatzis G, Asmann YW, Johnson SH, Eckloff BW, Middha S, Davila JI, Kurtin PJ, Link BK, Ansell SM, Cerhan JR. Abstract 5585: Integrated DNA/RNA sequencing for discovery and orthogonal validation of expressed fusion genes in peripheral T-cell lymphomas Cancer Research. 74: 5585-5585. DOI: 10.1158/1538-7445.Am2014-5585  0.383
2014 Mazzone A, Gibbons SJ, Bernard CE, Nowsheen S, Middha S, Almada LL, Ordog T, Kendrick ML, Lombardo KMR, Shen KR, Galietta LJ, Fernandez-Zapico ME, Farrugia G. Su2023 IL-4 via STAT6 Regulates a Promoter for the Human Ano1 Gene Gastroenterology. 146. DOI: 10.1016/S0016-5085(14)61902-8  0.304
2013 Feldman AL, Vasmatzis G, Asmann YW, Davila J, Middha S, Eckloff BW, Johnson SH, Porcher JC, Ansell SM, Caride A. Novel TRAF1-ALK fusion identified by deep RNA sequencing of anaplastic large cell lymphoma. Genes, Chromosomes & Cancer. 52: 1097-102. PMID 23999969 DOI: 10.1002/Gcc.22104  0.349
2013 Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circulation. Cardiovascular Genetics. 6: 279-89. PMID 23677916 DOI: 10.1161/Circgenetics.113.000138  0.318
2013 Haralambieva IH, Oberg AL, Ovsyannikova IG, Kennedy RB, Grill DE, Middha S, Bot BM, Wang VW, Smith DI, Jacobson RM, Poland GA. Genome-wide characterization of transcriptional patterns in high and low antibody responders to rubella vaccination. Plos One. 8: e62149. PMID 23658707 DOI: 10.1371/Journal.Pone.0062149  0.322
2013 DeRycke MS, Gunawardena SR, Middha S, Asmann YW, Schaid DJ, McDonnell SK, Riska SM, Eckloff BW, Cunningham JM, Fridley BL, Serie DJ, Bamlet WR, Cicek MS, Jenkins MA, Duggan DJ, et al. Identification of novel variants in colorectal cancer families by high-throughput exome sequencing. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 22: 1239-51. PMID 23637064 DOI: 10.1158/1055-9965.Epi-12-1226  0.4
2013 Kolbert CP, Feddersen RM, Rakhshan F, Grill DE, Simon G, Middha S, Jang JS, Simon V, Schultz DA, Zschunke M, Lingle W, Carr JM, Thompson EA, Oberg AL, Eckloff BW, et al. Multi-platform analysis of microRNA expression measurements in RNA from fresh frozen and FFPE tissues. Plos One. 8: e52517. PMID 23382819 DOI: 10.1371/Journal.Pone.0052517  0.332
2013 DeRycke MS, Gunawardena SR, Middha S, McDonnell SK, Riska SM, Fogarty ZC, Eckloff BW, Schaid DJ, Goode EL, Thibodeau SN. Abstract 2548: Targeted sequencing to identify rare variants in colorectal cancer. Cancer Research. 73: 2548-2548. DOI: 10.1158/1538-7445.Am2013-2548  0.411
2012 Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, et al. Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology. 79: 221-8. PMID 22722634 DOI: 10.1212/Wnl.0B013E3182605801  0.333
2012 Sun Z, Baheti S, Middha S, Kanwar R, Zhang Y, Li X, Beutler AS, Klee E, Asmann YW, Thompson EA, Kocher JP. SAAP-RRBS: streamlined analysis and annotation pipeline for reduced representation bisulfite sequencing. Bioinformatics (Oxford, England). 28: 2180-1. PMID 22689387 DOI: 10.1093/Bioinformatics/Bts337  0.313
2012 Zou F, Chai HS, Younkin CS, Allen M, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, et al. Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. Plos Genetics. 8: e1002707. PMID 22685416 DOI: 10.1371/Journal.Pgen.1002707  0.331
2012 Egan JB, Shi CX, Tembe W, Christoforides A, Kurdoglu A, Sinari S, Middha S, Asmann Y, Schmidt J, Braggio E, Keats JJ, Fonseca R, Bergsagel PL, Craig DW, Carpten JD, et al. Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides. Blood. 120: 1060-6. PMID 22529291 DOI: 10.1182/Blood-2012-01-405977  0.379
2012 Allen M, Zou F, Chai HS, Younkin CS, Miles R, Nair AA, Crook JE, Pankratz VS, Carrasquillo MM, Rowley CN, Nguyen T, Ma L, Malphrus KG, Bisceglio G, Ortolaza AI, ... ... Middha S, et al. Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications. Molecular Neurodegeneration. 7: 13. PMID 22494505 DOI: 10.1186/1750-1326-7-13  0.306
2012 Asmann YW, Middha S, Hossain A, Baheti S, Li Y, Chai HS, Sun Z, Duffy PH, Hadad AA, Nair A, Liu X, Zhang Y, Klee EW, Kalari KR, Kocher JP. TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data. Bioinformatics (Oxford, England). 28: 277-8. PMID 22088845 DOI: 10.1093/Bioinformatics/Btr612  0.352
2012 Taner N, Zou F, Chai HS, Younkin C, Crook J, Pankratz V, Allen M, Carrasquillo M, Rowley C, Nair A, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus K, et al. Novel Progressive Supranuclear Palsy (PSP) Risk Loci Variants Associate with Brain Gene Expression Levels (S54.002) Neurology. 78: S54.002-S54.002. DOI: 10.1212/Wnl.78.1_Meetingabstracts.S54.002  0.323
2012 Taner N, Zou F, Chai HS, Younkin C, Crook J, Pankratz V, Allen M, Carrasquillo M, Rowley C, Nair A, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus K, et al. Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants (P05.069) Neurology. 78: P05.069-P05.069. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.069  0.333
2012 Ertekin-Taner N, Zou F, Chai HS, Younkin C, Crook J, Pankratz V, Allen M, Carrasquillo M, Rowley C, Nair A, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus K, et al. Identification of human disease-associated variants in a brain expression genome-wide association study (eGWAS) Alzheimers & Dementia. 8: 178. DOI: 10.1016/J.Jalz.2012.05.480  0.326
2012 Ertekin-Taner N, Allen M, Murray M, Crook J, Serie D, Zou F, Chai HS, Younkin C, Pankratz V, Carrasquillo M, Rowley C, Nair A, Middha S, Maharjan S, Nguyen T, et al. O5-03-03: Genetic association of progressive supranuclear palsy (PSP) risk loci variants with brain gene expression and neuropathology endophenotypes Alzheimer's & Dementia. 8: P735-P735. DOI: 10.1016/J.Jalz.2012.05.1983  0.311
2012 Allen M, Zou F, Chai HS, Younkin C, Crook J, Pankratz V, Carrasquillo M, Rowley C, Nair A, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus K, Palusak R, et al. Genetic association of variants with late-onset Alzheimer's disease risk and brain gene expression Alzheimers & Dementia. 8: 451. DOI: 10.1016/J.Jalz.2012.05.1202  0.313
2011 Asmann YW, Hossain A, Necela BM, Middha S, Kalari KR, Sun Z, Chai HS, Williamson DW, Radisky D, Schroth GP, Kocher JP, Perez EA, Thompson EA. A novel bioinformatics pipeline for identification and characterization of fusion transcripts in breast cancer and normal cell lines. Nucleic Acids Research. 39: e100. PMID 21622959 DOI: 10.1093/Nar/Gkr362  0.32
2011 Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, ... ... Middha S, et al. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genetics. 43: 595-600. PMID 21532572 DOI: 10.1038/Ng.830  0.327
2011 Middha S, Asmann YW, Hossain A, Baheti S, Li Y, Chai H, Sun Z, Duffy PH, Hadad AA, Nair A, Liu X, Zhang Y, Klee EW, Kocher JA. TREAT: A comprehensive open framework for targeted re-sequencing analysis F1000research. 2. DOI: 10.7490/F1000Research.892.1  0.306
2011 Hoppman-Chaney N, Peterson LM, Klee EW, Middha S, Courteau LK, Ferber MJ. Erratum: Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics (Clinical Chemistry (2010) 56 (1297-1306) DOI: 10.1373/clinchem. 2010.145441) Clinical Chemistry. 57. DOI: 10.1373/Clinchem.2010.158063  0.316
2011 Liu X, Middha S, Hart S, Nair A, Hadad A, Duffy P, Kocher J. A high-throughput-sequence analysis infrastructure technology investigation framework for the evaluation of next-generation sequencing software Genome Biology. 12: 48. DOI: 10.1186/Gb-2011-12-S1-P48  0.305
2011 Middha S, Theis JL, Goodloe AH, Olson TM, Kocher JA. Genomes or exomes: evaluation of cost, time and coverage Genome Biology. 12: 43. DOI: 10.1186/Gb-2011-12-S1-P43  0.353
2011 Asmann YW, Andrade Md, Middha S, Matsumoto ME, Armasu SM, Petterson TM, Cunningham JM, Heit JA. Identification of Venous Thromboembolism (VTE)-Associated Novel Variants in the ABO Gene Using Targeted Deep Sequencing Blood. 118: 709-709. DOI: 10.1182/Blood.V118.21.709.709  0.335
2011 Kalari KR, Rossell D, Asmann Y, Nair A, Baker T, Carr J, Chai H, Hossain A, Sun Z, Li Y, Middha S, Bot B, Passow JE, Kocher J, Perez E, et al. Abstract 4975: Next generation sequencing reveals a connection between KRAS mutation and the NFkB pathway in lung adenocarcinoma samples Cancer Research. 71: 4975-4975. DOI: 10.1158/1538-7445.Am2011-4975  0.408
2011 DeRycke MS, Gunawardena SR, Middha S, McDonnell SK, Eckloff BW, Asmann YW, Schaid DJ, Goode EL, Thibodeau SN. Abstract 2742: Assessment of next generation platforms and use of duplicate runs for whole exome sequencing Cancer Research. 71: 2742-2742. DOI: 10.1158/1538-7445.Am2011-2742  0.324
2011 Ertekin-Taner N, Zou F, Chai H, Younkin C, Crook J, Pankratz S, Allen M, Carrasquillo M, Rowley C, Pedraza O, Ansari M, Hayward C, Rudan I, Campbell H, Polasek O, ... ... Middha S, et al. Genome-Wide Association Study of Brain Gene Expression Levels (eGWAS) Alzheimers & Dementia. 7. DOI: 10.1016/J.Jalz.2011.05.509  0.337
2010 Hoppman-Chaney N, Peterson LM, Klee EW, Middha S, Courteau LK, Ferber MJ. Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics. Clinical Chemistry. 56: 1297-306. PMID 20562348 DOI: 10.1373/Clinchem.2010.145441  0.36
2009 Asmann YW, Klee EW, Thompson EA, Perez EA, Middha S, Oberg AL, Therneau TM, Smith DI, Poland GA, Wieben ED, Kocher JP. 3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer. Bmc Genomics. 10: 531. PMID 19917133 DOI: 10.1186/1471-2164-10-531  0.32
2009 Costello JC, Dalkilic MM, Beason SM, Gehlhausen JR, Patwardhan R, Middha S, Eads BD, Andrews JR. Gene networks in Drosophila melanogaster: integrating experimental data to predict gene function. Genome Biology. 10: R97. PMID 19758432 DOI: 10.1186/Gb-2009-10-9-R97  0.317
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