Publications

  1. Macke EL, Morales-Rosado JA, Macklin-Mantia SK, Schmitz CT, Oskarsson B, Klee EW, Wierenga KJ. Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome. Mol Genet Genomic Med. 2022 Jul; 10 (7):e1966 Epub 2022 May 15
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  2. van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Hum Mutat. 2022 Jun 22 Epub 2022 June 22
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  3. Thompson AF, Blackburn PR, Arons NS, Stevens SN, Babovic-Vuksanovic D, Lian JB, Klee EW, Stumpff J. Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation. Elife. 2022 Jun 22; 11 Epub 2022 June 22
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  4. Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klockner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 Jun 13; 14 (1):62 Epub 2022 June 13
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  5. Thompson KJ, Leon-Ferre RA, Sinnwell JP, Zahrieh DM, Suman VJ, Metzger FO, Asad S, Stover DG, Carey L, Sikov WM, Ingle JN, Liu MC, Carter JM, Klee EW, Weinshilboum RM, Boughey JC, Wang L, Couch FJ, Goetz MP, Kalari KR. Luminal androgen receptor breast cancer subtype and investigation of the microenvironment and neoadjuvant chemotherapy response. NAR Cancer. 2022 Jun; 4 (2):zcac018 Epub 2022 June 17
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  6. O'Grady L, Schrier Vergano SA, Hoffman TL, Sarco D, Cherny S, Bryant E, Schultz-Rogers L, Chung WK, Sacharow S, Immken LL, Holder S, Blackwell RR, Buchanan C, Yusupov R, Lecoquierre F, Guerrot AM, Rodan L, de Vries BBA, Kamsteeg EJ, Santos Simarro F, Palomares-Bralo M, Brown N, Pais L, Ferrer A, Klee EW, Babovic-Vuksanovic D, Rhodes L, Person R, Begtrup A, Keller-Ramey J, Santiago-Sim T, Schnur RE, Sweetser DA, Gold NB. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022 May 11 [Epub ahead of print]
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  7. Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogne B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friethriksdottir R, Katrinardottir H, Sulem P, Stefansson K, Bjornsson HT, Mandelstam S, Morleo M, Mariani M, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY, TUDP Study Group//Broad Center for Mendelian Genomics. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 Apr 7; 109 (4):601-617
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  8. Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28 [Epub ahead of print]
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  9. Safgren SL, Olson RJ, Pinto E Vairo F, Bothun ED, Hanna C, Klee EW, Schimmenti LA. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype. Am J Med Genet A. 2022 Mar; 188 (3):919-925 Epub 2021 Nov 19
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  10. Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol. 2022; 10:783762 Epub 2022 Feb 28
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  11. Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J Med Genet. 2021 Dec 15 [Epub ahead of print]
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  12. Rangan A, Hein MS, Jenkinson WG, Koganti T, Aleff RA, Hilker CA, Blommel JH, Porter TR, Swanson KC, Lundquist P, Nguyen PL, Shi M, He R, Viswanatha DS, Jen J, Klee EW, Kipp BR, Hoyer JD, Wieben ED, Oliveira JL. Improved Characterization of Complex beta-Globin Gene Cluster Structural Variants Using Long-Read Sequencing. J Mol Diagn. 2021 Dec; 23 (12):1732-1740
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  13. Ahmed AE, Allen JM, Bhat T, Burra P, Fliege CE, Hart SN, Heldenbrand JR, Hudson ME, Istanto DD, Kalmbach MT, Kapraun GD, Kendig KI, Kendzior MC, Klee EW, Mattson N, Ross CA, Sharif SM, Venkatakrishnan R, Fadlelmola FM, Mainzer LS. Design considerations for workflow management systems use in production genomics research and the clinic. Sci Rep. 2021 Nov 4; 11 (1):21680 Epub 2021 Nov 04
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  14. Mangaonkar AA, Ferrer A, Vairo FPE, Hammel CW, Prochnow C, Gangat N, Hogan WJ, Litzow MR, Peters SG, Scott JP, Utz JP, Baqir M, Carmona-Porquera EM, Kalra S, Sekiguchi H, Khan SP, Simonetto DA, Klee EW, Kamath PS, Roden AC, Joshi AY, Kennedy CC, Wylam ME, Patnaik MM. Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths. Blood Cancer J 2021 Oct 22; 11 (10):170
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  15. Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Mol Genet Genomic Med. 2021 Oct; 9 (10):e1799 Epub 2021 Sept 12
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  16. Sankaranarayanan S, Balan J, Walsh JR, Wu Y, Minnich S, Piazza A, Osborne C, Oliver GR, Lesko J, Bates KL, Khezeli K, Block DR, DiGuardo M, Kreuter J, O'Horo JC, Kalantari J, Klee EW, Salama ME, Kipp B, Morice WG, Jenkinson G. COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation. J Med Internet Res. 2021 Sep 28; 23 (9):e30157 Epub 2021 Sept 28
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  17. Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Wangler MF, Yamamoto S, Bellen HJ, Tan QK, Undiagnosed Diseases Network. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 Sep 2; 108 (9):1669-1691 Epub 2021 July 26
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  18. Lincoln SE, Hambuch T, Zook JM, Bristow SL, Hatchell K, Truty R, Kennemer M, Shirts BH, Fellowes A, Chowdhury S, Klee EW, Mahamdallie S, Cleveland MH, Vallone PM, Ding Y, Seal S, DeSilva W, Tomson FL, Huang C, Garlick RK, Rahman N, Salit M, Kingsmore SF, Ferber MJ, Aradhya S, Nussbaum RL. One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation. Genet Med. 2021 Sep; 23 (9):1673-1680 Epub 2021 May 18
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  19. Pinto E Vairo F, Prochnow C, Kemppainen JL, Lisi EC, Steyermark JM, Kruisselbrink TM, Pichurin PN, Dhamija R, Hager MM, Albadri S, Cornell LD, Lazaridis KN, Klee EW, Senum SR, El Ters M, Amer H, Baudhuin LM, Moyer AM, Keddis MT, Zand L, Sas DJ, Erickson SB, Fervenza FC, Lieske JC, Harris PC, Hogan MC. Genomics Integration Into Nephrology Practice. Kidney Med. 2021 Sep-Oct; 3 (5):785-798 Epub 2021 June 29
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  20. Ramachandran A, Lumetta SS, Klee EW, Chen D. HELLO: improved neural network architectures and methodologies for small variant calling. BMC Bioinformatics. 2021 Aug 14; 22 (1):404
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  21. Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gerard B, Bloch-Zupan A, Smith RJ, Klee EW, Undiagnosed Diseases Network. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Am J Med Genet A. 2021 Aug; 185 (8):2417-2433 Epub 2021 May 27
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  22. Srivastava S, Macke EL, Swanson LC, Coulter D, Klee EW, Mullegama SV, Xie Y, Lanpher BC, Bedoukian EC, Skraban CM, Villard L, Milh M, Leppert MLO, Cohen JS. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sci. 2021 Jul 14; 11 (7) Epub 2021 July 14
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  23. Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 Jul; 62 (7):e103-e109 Epub 2021 May 26
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  24. Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN, Undiagnosed Diseases Network//Genomics England Research Consortium. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 Jul; 53 (7):1006-1021 Epub 2021 July 01
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  25. DeVoe E, Oliver GR, Zenka R, Blackburn PR, Cousin MA, Boczek NJ, Kocher JA, Urrutia R, Klee EW, Zimmermann MT. P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants. JAMIA Open. 2021 Jul; 4 (3):ooab065 Epub 2021 Aug 07
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  26. Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Ounap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Miguez M, Ritter A, Bhoj E, Tonne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 Jun 3; 108 (6):1053-1068 Epub 2021 Apr 27
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  27. Morales-Rosado JA, Goel K, Zhang L, Akerblom A, Baheti S, Black JL, Eriksson N, Wallentin L, James S, Storey RF, Goodman SG, Jenkins GD, Eckloff BW, Bielinski SJ, Sicotte H, Johnson S, Roger VL, Wang L, Weinshilboum R, Klee EW, Rihal CS, Pereira NL. Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics. Cardiovasc Drugs Ther. 2021 Jun; 35 (3):549-559
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  28. Morales-Rosado JA, Singh H, Olson RJ, Larsen BT, Hager MM, Klee EW, Dhamija R. Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review. Am J Med Genet A. 2021 Jun; 185 (6):1883-1887 Epub 2021 Mar 29
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  29. Coppens S, Barnard AM, Puusepp S, Pajusalu S, Ounap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Lusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Auge A, Deleuze JF, Meng Y, Topf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bonnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6; 108 (5):840-856 Epub 2021 Apr 15
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  30. Tian S, Zhang H, Zhang P, Kalmbach M, Lee JH, Ordog T, Hampel PJ, Call TG, Witzig TE, Kay NE, Klee EW, Slager SL, Yan H, Ding W. Epigenetic alteration contributes to the transcriptional reprogramming in T-cell prolymphocytic leukemia. Sci Rep. 2021 Apr 15; 11 (1):8318
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  31. Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM. A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype. Haematologica 2021 Apr 1; 106 (4):1188-1192 Epub 2021 Apr 01
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  32. Radio FC, Pang K, Ciolfi A, Levy MA, Hernandez-Garcia A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 Mar 4; 108 (3):502-516 Epub 2021 Feb 16
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  33. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23 (3):498-507 Epub 2020 Nov 04
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  34. Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk OL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Kury S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Moller RS, Scheffer IE. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genet Med. 2021 Feb; 23 (2):363-373 Epub 2020 Nov 04
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  35. Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Svantnerova J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet Med. 2021 Feb; 23 (2):384-395 Epub 2020 Nov 11
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  36. Oliver GR, Marcano-Bonilla S, Quist J, Tolosa EJ, Iguchi E, Swanson AA, Hoppman NL, Schwab T, Sigafoos A, Prodduturi N, Voss JS, Knight SM, Zhang J, Fadra N, Urrutia R, Zimmerman M, Egan JB, Bilyeu AG, Jen J, Veras E, Al-Safi R, Block M, Kerr S, Fernandez-Zapico ME, Schoolmeester JK, Klee EW. LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth. PLoS One. 2021; 16(5):e0250518. Epub 2021 May 25.
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  37. Balan J, Jenkinson G, Nair A, Saha N, Koganti T, Voss J, Zysk C, Barr Fritcher EG, Ross CA, Giannini C, Raghunathan A, Kipp BR, Jenkins R, Ida C, Halling KC, Blackburn PR, Dasari S, Oliver GR, Klee EW. SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA. Front Genet. 2021; 12:739054. Epub 2021 Oct 22.
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  137. Bryce AH, Egan JB, Borad MJ, Stewart AK, Nowakowski GS, Chanan-Khan A, Patnaik MM, Ansell SM, Banck MS, Robinson SI, Mansfield AS, Klee EW, Oliver GR, McCormick JB, Huneke NE, Tagtow CM, Jenkins RB, Rumilla KM, Kerr SE, Kocher JA, Beck SA, Fernandez-Zapico ME, Farrugia G, Lazaridis KN, McWilliams RR. Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery. Oncotarget. 2017 Apr 18; 8 (16):27145-27154
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  138. Safarova MS, Klee EW, Baudhuin LM, Winkler EM, Kluge ML, Bielinski SJ, Olson JE, Kullo IJ. Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals. Eur J Hum Genet. 2017 Apr; 25 (4):410-415 Epub 2017 Feb 01
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  139. Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr; 49 (4):527-536 Epub 2017 Mar 13
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  141. Blackburn PR, Williams M, Cousin MA, Boczek NJ, Beek GJ, Lomberk GA, Urrutia RA, Babovic-Vuksanovic D, Klee EW. A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. Mol Genet Genomic Med. 2017 Mar; 5 (2):141-146 Epub 2017 Jan 26
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  142. Gerlai R, Poshusta TL, Rampersad M, Fernandes Y, Greenwood TM, Cousin MA, Klee EW, Clark KJ. Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants. Behav Genet. 2017 Jan; 47 (1):125-139 Epub 2016 Oct 05
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  143. Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS. Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. Case Rep Genet. 2017; 2017:7263780 Epub 2017 Jan 09
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  145. Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case Rep Genet. 2017; 2017:9184265 Epub 2017 Apr 12
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  146. Kaiwar C, Macklin SK, Gass JM, Jackson J, Klee EW, Hines SL, Stauffer JA, Atwal PS. Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1. Hered Cancer Clin Pract. 2017; 15:10 Epub 2017 July 21
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  147. Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Maple syrup urine disease: mechanisms and management. Appl Clin Genet. 2017; 10:57-66 Epub 2017 Sept 06
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  148. Egan JB, Marks DL, Hogenson TL, Vrabel AM, Sigafoos AN, Tolosa EJ, Carr RM, Safgren SL, Hesles EE, Almada LL, Romecin-Duran PA, Iguchi E, Ala'Aldeen A, Kocher JA, Oliver GR, Prodduturi N, Mead DW, Hossain A, Huneke NE, Tagtow CM, Ailawadhi S, Ansell SM, Banck MS, Bryce AH, Carballido EM, Chanan-Khan AA, Curtis KK, Resnik E, Gawryletz CD, Go RS, Halfdanarson TR, Ho TH, Joseph RW, Kapoor P, Mansfield AS, Meurice N, Nageswara Rao AA, Nowakowski GS, Pardanani A, Parikh SA, Cheville JC, Feldman AL, Ramanathan RK, Robinson SI, Tibes R, Finnes HD, McCormick JB, McWilliams RR, Jatoi A, Patnaik MM, Silva AC, Wieben ED, McAllister TM, Rumilla KM, Kerr SE, Lazaridis KN, Farrugia G, Stewart AK, Clark KJ, Kennedy EJ, Klee EW, Borad MJ, Fernandez-Zapico ME. Molecular Modeling and Functional Analysis of Exome Sequencing-Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma. JCO Precis Oncol. 2017; 2017 Epub 2017 Aug 01
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  149. Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. BMC Med Genet. 2016 Dec 5; 17 (1):93 Epub 2016 Dec 05
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  150. Clift K, Guthrie K, Klee EW, Boczek N, Cousin M, Blackburn P, Atwal P. Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing. Prion. 2016 Nov; 10 (6):502-506
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  151. Davila JI, Fadra NM, Wang X, McDonald AM, Nair AA, Crusan BR, Wu X, Blommel JH, Jen J, Rumilla KM, Jenkins RB, Aypar U, Klee EW, Kipp BR, Halling KC. Impact of RNA degradation on fusion detection by RNA-seq. BMC Genomics. 2016 Oct 20; 17(1):814.
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  152. Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC. Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. Hum Mutat. 2016 Oct; 37 (10):1097-105 Epub 2016 Aug 08
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  153. Camilleri M, Carlson P, Valentin N, Acosta A, O'Neill J, Eckert D, Dyer R, Na J, Klee EW, Murray JA. Pilot study of small bowel mucosal gene expression in patients with irritable bowel syndrome with diarrhea. Am J Physiol Gastrointest Liver Physiol. 2016 Sep 1; 311 (3):G365-76 Epub 2016 July 21
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  154. Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW. Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. Clin Case Rep. 2016 Sep; 4 (9):885-95 Epub 2016 Aug 15
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  155. Ji Y, Skierka JM, Blommel JH, Moore BE, VanCuyk DL, Bruflat JK, Peterson LM, Veldhuizen TL, Fadra N, Peterson SE, Lagerstedt SA, Train LJ, Baudhuin LM, Klee EW, Ferber MJ, Bielinski SJ, Caraballo PJ, Weinshilboum RM, Black JL 3rd. Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade. J Mol Diagn. 2016 May; 18 (3):438-445 Epub 2016 Mar 03
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  156. Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G, Individualized Medicine Clinic Members. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc. 2016 Mar; 91: (3)297-307.
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  158. Swaika A, Boczek NJ, Sood N, Guthrie K, Klee EW, Agrawal A, Dimberg EL, Ailawadhi S. Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). Case Rep Genet. 2016; 2016:9280812 Epub 2016 Apr 19
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  159. Morales-Rosado JA, Cousin MA, Ebbert JO, Klee EW. A Critical Review of Repurposing Apomorphine for Smoking Cessation. Assay Drug Dev Technol. 2015 Dec; 13: (10)612-22.
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  160. Lindor NM, Schahl KA, Johnson KJ, Hunt KS, Mensink KA, Wieben ED, Klee E, Black JL, Highsmith WE Jr, Thibodeau SN, Ferber MJ, Aypar U, Ji Y, Graham RP, Fiksdal AS, Sarangi V, Ormond KE, Riegert-Johnson DL, McAllister TM, Farrugia G, McCormick JB. Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes. Mayo Clin Proc. 2015 Oct; 90 (10):1327-37
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  161. Gleeson FC, Kipp BR, Voss JS, Campion MB, Minot DM, Tu ZJ, Klee EW, Graham RP, Lazaridis KN, Henry MR, Levy MJ. Frequency of mitogen-activated protein kinase and phosphoinositide 3-kinase signaling pathway pathogenic alterations in EUS-FNA sampled malignant lymph nodes in rectal cancer with theranostic potential. Gastrointest Endosc. 2015 Sep; 82 (3):550-6.e1 Epub 2015 Apr 14
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  162. Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing. J Mol Diagn. 2015 Jul; 17 (4):456-61 Epub 2015 May 08
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  163. Gleeson FC, Kipp BR, Voss JS, Campion MB, Minot DM, Tu ZJ, Klee EW, Sciallis AP, Graham RP, Lazaridis KN, Henry MR, Levy MJ. Endoscopic ultrasound fine-needle aspiration cytology mutation profiling using targeted next-generation sequencing: personalized care for rectal cancer. Am J Clin Pathol. 2015 Jun; 143 (6):879-88
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  164. Gleeson FC, Kipp BR, Levy MJ, Voss JS, Campion MB, Minot DM, Tu ZJ, Klee EW, Lazaridis KN, Kerr SE. Somatic STK11 and concomitant STK11/KRAS mutational frequency in stage IV lung adenocarcinoma adrenal metastases. J Thorac Oncol. 2015 Mar; 10 (3):531-4
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  165. Gleeson FC, Kipp BR, Kerr SE, Voss JS, Graham RP, Campion MB, Minot DM, Tu ZJ, Klee EW, Lazaridis KN, Henry MR, Levy MJ. Kinase genotype analysis of gastric gastrointestinal stromal tumor cytology samples using targeted next-generation sequencing. Clin Gastroenterol Hepatol. 2015 Jan; 13 (1):202-6 Epub 2014 July 03
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  166. Oliver GR, Hart SN, Klee EW. Bioinformatics for clinical next generation sequencing. Clin Chem. 2015 Jan; 61 (1):124-35 Epub 2014 Dec 01
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  167. Gleeson FC, Kipp BR, Levy MJ, Voss JS, Campion MB, Minot DM, Tu ZJ, Klee EW, Lazaridis KN, Kerr SE. Lung cancer adrenal gland metastasis: Optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing. Cancer Cytopathol. 2014 Nov; 122 (11):822-32 Epub 2014 July 15
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  168. Shameer K, Shameer K, Klee EW, Dalenberg AK, Kullo IJ. Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness. Circ Cardiovasc Genet. 2014 Oct; 7 (5):607-14 Epub 2014 Aug 13
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  169. Klee EW, Bondar OP, Goodmanson MK, Trushin SA, Bergstralh EJ, Singh RJ, Anderson NL, Klee GG. Serum concentrations of prostate-specific antigen measured using immune extraction, trypsin digestion, and tandem mass spectrometry quantification of LSEPAELTDAVK peptide. Arch Pathol Lab Med. 2014 Oct; 138 (10):1381-6
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  170. Camilleri M, Carlson P, Acosta A, Busciglio I, Nair AA, Gibbons SJ, Farrugia G, Klee EW. RNA sequencing shows transcriptomic changes in rectosigmoid mucosa in patients with irritable bowel syndrome-diarrhea: a pilot case-control study. Am J Physiol Gastrointest Liver Physiol. 2014 Jun 15; 306 (12):G1089-98 Epub 2014 Apr 24
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  171. Klee EW, Bondar OP, Goodmanson MK, Trushin SA, Singh RJ, Anderson NL, Klee GG. Mass spectrometry measurements of prostate-specific antigen (PSA) peptides derived from immune-extracted PSA provide a potential strategy for harmonizing immunoassay differences. Am J Clin Pathol. 2014 Apr; 141(4):527-33.
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  172. Lazaridis KN, McAllister TM, Babovic-Vuksanovic D, Beck SA, Borad MJ, Bryce AH, Chanan-Khan AA, Ferber MJ, Fonseca R, Johnson KJ, Klee EW, Lindor NM, McCormick JB, McWilliams RR, Parker AS, Riegert-Johnson DL, Rohrer Vitek CR, Schahl KA, Schultz C, Stewart K, Then GC, Wieben ED, Farrugia G. Implementing individualized medicine into the medical practice. Am J Med Genet C Semin Med Genet. 2014 Mar; 166C(1):15-23. Epub 2014 Mar 10.
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  174. Pickart MA, Klee EW. Zebrafish approaches enhance the translational research tackle box. Transl Res. 2014 Feb; 163 (2):65-78 Epub 2013 Nov 02
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  175. Singh M, Bhartiya D, Maini J, Sharma M, Singh AR, Kadarkaraisamy S, Rana R, Sabharwal A, Nanda S, Ramachandran A, Mittal A, Kapoor S, Sehgal P, Asad Z, Kaushik K, Vellarikkal SK, Jagga D, Muthuswami M, Chauhan RK, Leonard E, Priyadarshini R, Halimani M, Malhotra S, Patowary A, Vishwakarma H, Joshi P, Bhardwaj V, Bhaumik A, Bhatt B, Jha A, Kumar A, Budakoti P, Lalwani MK, Meli R, Jalali S, Joshi K, Pal K, Dhiman H, Laddha SV, Jadhav V, Singh N, Pandey V, Sachidanandan C, Ekker SC, Klee EW, Scaria V, Sivasubbu S. The Zebrafish GenomeWiki: a crowdsourcing approach to connect the long tail for zebrafish gene annotation. Database (Oxford). 2014; 2014:bau011. Epub 2014 Feb 26.
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  176. Cousin MA, Ebbert JO, Wiinamaki AR, Urban MD, Argue DP, Ekker SC, Klee EW. Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment. PLoS One. 2014; 9 (3):e90467 Epub 2014 Mar 21
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  177. Camilleri M, Klee EW, Shin A, Carlson P, Li Y, Grover M, Zinsmeister AR. Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit. Am J Physiol Gastrointest Liver Physiol. 2014 Jan 1; 306 (1):G13-26 Epub 2013 Nov 07
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  178. Bielinski SJ, Olson JE, Pathak J, Weinshilboum RM, Wang L, Lyke KJ, Ryu E, Targonski PV, Van Norstrand MD, Hathcock MA, Takahashi PY, McCormick JB, Johnson KJ, Maschke KJ, Rohrer Vitek CR, Ellingson MS, Wieben ED, Farrugia G, Morrisette JA, Kruckeberg KJ, Bruflat JK, Peterson LM, Blommel JH, Skierka JM, Ferber MJ, Black JL, Baudhuin LM, Klee EW, Ross JL, Veldhuizen TL, Schultz CG, Caraballo PJ, Freimuth RR, Chute CG, Kullo IJ. Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol. Mayo Clin Proc. 2014 Jan; 89 (1):25-33
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  179. Veldhuis JD, Bondar OP, Dyer RB, Trushin SA, Klee EW, Singh RJ, Klee GG. Immunological and mass spectrometric assays of SHBG: consistent and inconsistent metabolic associations in healthy men. J Clin Endocrinol Metab. 2014 Jan; 99 (1):184-93 Epub 2013 Dec 20
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  180. Patowary A, Purkanti R, Singh M, Chauhan R, Singh AR, Swarnkar M, Singh N, Pandey V, Torroja C, Clark MD, Kocher JP, Clark KJ, Stemple DL, Klee EW, Ekker SC, Scaria V, Sivasubbu S. A sequence-based variation map of zebrafish. Zebrafish. 2013 Mar; 10(1):15-20.
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  182. Aggarwal G, Ramachandran V, Javeed N, Arumugam T, Dutta S, Klee GG, Klee EW, Smyrk TC, Bamlet W, Han JJ, Rumie Vittar NB, de Andrade M, Mukhopadhyay D, Petersen GM, Fernandez-Zapico ME, Logsdon CD, Chari ST. Adrenomedullin is up-regulated in patients with pancreatic cancer and causes insulin resistance in beta cells and mice. Gastroenterology. 2012 Dec; 143 (6):1510-1517.e1 Epub 2012 Sept 06
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  183. 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. 2012 Aug 15; 28 (16):2180-1 Epub 2012 June 10
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  185. Mahapatra S, Klee EW, Young CY, Sun Z, Jimenez RE, Klee GG, Tindall DJ, Donkena KV. Global methylation profiling for risk prediction of prostate cancer. Clin Cancer Res. 2012 May 15; 18 (10):2882-95
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  186. Klee EW, Bondar OP, Goodmanson MK, Dyer RB, Erdogan S, Bergstralh EJ, Bergen HR 3rd, Sebo TJ, Klee GG. Candidate serum biomarkers for prostate adenocarcinoma identified by mRNA differences in prostate tissue and verified with protein measurements in tissue and blood. Clin Chem. 2012 Mar; 58 (3):599-609 Epub 2012 Jan 12
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  187. 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. 2012 Jan 15; 28 (2):277-8 Epub 2011 Nov 15
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  188. Mahapatra S, Young CY, Kohli M, Karnes RJ, Klee EW, Holmes MW, Tindall DJ, Donkena KV. Antiangiogenic Effects and Therapeutic Targets of Azadirachta indica Leaf Extract in Endothelial Cells. Evid Based Complement Alternat Med. 2012; 2012:303019 Epub 2012 Feb 22
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  189. Klee EW, Hoppman-Chaney NL, Ferber MJ. Expanding DNA diagnostic panel testing: is more better? Expert Rev Mol Diagn. 2011 Sep; 11(7):703-9.
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  190. Mahapatra S, Karnes RJ, Holmes MW, Young CY, Cheville JC, Kohli M, Klee EW, Tindall DJ, Donkena KV. Novel molecular targets of Azadirachta indica associated with inhibition of tumor growth in prostate cancer. AAPS J. 2011 Sep; 13 (3):365-77 Epub 2011 May 11
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  191. Bielinski SJ, Chai HS, Pathak J, Talwalkar JA, Limburg PJ, Gullerud RE, Sicotte H, Klee EW, Ross JL, Kocher JP, Kullo IJ, Heit JA, Petersen GM, de Andrade M, Chute CG. Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. Mayo Clin Proc. 2011 Jul; 86 (7):606-14 Epub 2011 June 06
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  192. Klee EW, Ebbert JO, Schneider H, Hurt RD, Ekker SC. Zebrafish for the study of the biological effects of nicotine. Nicotine Tob Res. 2011 May; 13 (5):301-12 Epub 2011 Mar 08
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  193. Ebbert JO, Wyatt KD, Hays JT, Klee EW, Hurt RD. Varenicline for smoking cessation: efficacy, safety, and treatment recommendations. Patient Prefer Adherence. 2010 Oct 5; 4:355-62 Epub 2010 Oct 05
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  194. 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. Clin Chem. 2010 Aug; 56 (8):1297-306 Epub 2010 June 18
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  196. 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. 2009 Nov 16; 10:531
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  197. Klee EW, Erdogan S, Tillmans L, Kosari F, Sun Z, Wigle DA, Yang P, Aubry MC, Vasmatzis G. Impact of sample acquisition and linear amplification on gene expression profiling of lung adenocarcinoma: laser capture micro-dissection cell-sampling versus bulk tissue-sampling. BMC Med Genomics. 2009 Mar 9; 2:13 Epub 2009 Mar 09
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  198. Erdogan E, Klee EW, Thompson EA, Fields AP. Meta-analysis of oncogenic protein kinase Ciota signaling in lung adenocarcinoma. Clin Cancer Res. 2009 Mar 1; 15 (5):1527-33 Epub 2009 Feb 17
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  199. Cheville JC, Karnes RJ, Therneau TM, Kosari F, Munz JM, Tillmans L, Basal E, Rangel LJ, Bergstralh E, Kovtun IV, Savci-Heijink CD, Klee EW, Vasmatzis G. Gene panel model predictive of outcome in men at high-risk of systemic progression and death from prostate cancer after radical retropubic prostatectomy. J Clin Oncol. 2008 Aug 20; 26 (24):3930-6
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  200. Gerszten RE, Accurso F, Bernard GR, Caprioli RM, Klee EW, Klee GG, Kullo I, Laguna TA, Roth FP, Sabatine M, Srinivas P, Wang TJ, Ware LB. Challenges in translating plasma proteomics from bench to bedside: update from the NHLBI Clinical Proteomics Programs. Am J Physiol Lung Cell Mol Physiol. 2008 Jul; 295(1):L16-22. Epub 2008 May 02.
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  201. Klee EW. The zebrafish secretome. Zebrafish. 2008 Summer; 5 (2):131-8
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  204. Vasmatzis G, Klee EW, Kube DM, Therneau TM, Kosari F. Quantitating tissue specificity of human genes to facilitate biomarker discovery. Bioinformatics. 2007 Jun 1; 23(11):1348-55. Epub 2007 Mar 23.
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  205. Bondar OP, Barnidge DR, Klee EW, Davis BJ, Klee GG. LC-MS/MS quantification of Zn-alpha2 glycoprotein: a potential serum biomarker for prostate cancer. Clin Chem. 2007 Apr; 53 (4):673-8 Epub 2007 Feb 22
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  206. Klee EW, Sosa CP. Computational classification of classically secreted proteins. Drug Discov Today. 2007 Mar; 12 (5-6):234-40 Epub 2007 Feb 09
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  207. Klee EW, Finlay JA, McDonald C, Attewell JR, Hebrink D, Dyer R, Hebrink D, Love B, Vasmatzis G, Li TM, Beechem JM, Klee GG. Bioinformatics methods for prioritizing serum biomarker candidates. Clin Chem. 2006 Nov; 52 (11):2162-4
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  208. Finlay JA, Klee EW, McDonald C, Attewell JR, Hebrink D, Dyer R, Love B, Vasmatzis G, Li TM, Beechem JM, Klee GG. A systematic method for selection of promising serum protein biomarkers to improve prostate cancer (PCa1) detection. Clin Chem. 2006 Nov; 52(11):2159-62.
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  209. Pickart MA, Klee EW, Nielsen AL, Sivasubbu S, Mendenhall EM, Bill BR, Chen E, Eckfeldt CE, Knowlton M, Robu ME, Larson JD, Deng Y, Schimmenti LA, Ellis LB, Verfaillie CM, Hammerschmidt M, Farber SA, Ekker SC. Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. PLoS One. 2006; 1:e104. Epub 2006 Dec 20.
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  210. Klee EW, Shim KJ, Pickart MA, Ekker SC, Ellis LB. AMOD: a morpholino oligonucleotide selection tool. Nucleic Acids Res. 2005 Jul 1; 33(Web Server issue):W506-11.
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