Publications

  1. Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietilainen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, Sticht H, Gregor A, Van Esch H, Zweier C, DDD Study. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019 Dec; 21 (12):2723-2733 Epub 2019 June 26
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  2. Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2019 Nov 25; 103817 [Epub ahead of print]
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  3. Heldenbrand JR, Baheti S, Bockol MA, Drucker TM, Hart SN, Hudson ME, Iyer RK, Kalmbach MT, Kendig KI, Klee EW, Mattson NR, Wieben ED, Wiepert M, Wildman DE, Mainzer LS. Recommendations for performance optimizations when using GATK3.8 and GATK4. BMC Bioinformatics. 2019 Nov 8; 20 (1):557 Epub 2019 Nov 08
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  4. Zimmermann MT, Williams MM, Klee EW, Lomberk GA, Urrutia R. Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1alpha-importin alpha heterodimers. Proteins. 2019 Nov; 87 (11):904-916 Epub 2019 June 14
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  5. Zepeda-Mendoza CJ, Cousin MA, Basu S, Jenkinson WG, Oliver GR, Pittock ST, Baughn LA, Klee E, Babovic-Vuksanovic D. An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I. Cold Spring Harb Mol Case Stud. 2019 Oct 29 [Epub ahead of print]
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  6. Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee E, Dhamija R. Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. Cold Spring Harb Mol Case Stud. 2019 Oct 11 [Epub ahead of print]
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  7. Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogne B, Kuechler A, Piton A, Klee EW, Lefebvre V, Clark KJ, Depienne C, Deciphering Developmental Disorder Study. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2019 Oct 3 Epub 2019 Oct 03
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  8. Kaiwar C, Kruisselbrink TM, Kudva YC, Klee EW, Pichurin P. Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype. Clin Immunol. 2019 Oct; 207:55-57 Epub 2018 Sept 30
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  9. Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, Garcia-Minaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. Eur J Hum Genet. 2019 Sep; 27 (9):1379-1388 Epub 2019 May 03
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  10. Gupta A, Zimmermann MT, Wang H, Broski SM, Sigafoos AN, Macklin SK, Urrutia RA, Clark KJ, Atwal PS, Pignolo RJ, Klee EW. Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification. Am J Med Genet A. 2019 Sep; 179 (9):1764-1777 Epub 2019 June 26
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  11. Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Gangat N, Hogan WJ, Litzow MR, McAllister TM, Klee EW, Lazaridis KN, Stewart AK, Patnaik MM. Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias. Mayo Clin Proc. 2019 Sep; 94 (9):1753-1768 Epub 2019 June 27
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  12. Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova R. Three Rare Disease Diagnoses in One Patient through Exome Sequencing. Cold Spring Harb Mol Case Stud. 2019 Aug 19 [Epub ahead of print]
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  13. Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muino-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Correction: Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2019 Aug; 21 (8):1894-1895
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  14. Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M. Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019 Aug; 27 (8):1225-1234 Epub 2019 Apr 11
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  15. Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, SYNAPS Study Group. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019 Jul 12; 10 (1):3094 Epub 2019 July 12
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  16. Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 Jul 3; 105 (1):108-121 Epub 2019 June 13
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  17. Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Gronborg S, Mercier S, Kury S, Bezieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Desir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, Lopez-Otin C, Santiago-Fernandez O, Fernandez-Jaen A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Perez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gecz J, Jolly LA, Undiagnosed Diseases Network. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling. Biol Psychiatry. 2019 Jun 29 Epub 2019 June 29
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  18. Williams MM, Mathison AJ, Christensen T, Greipp PT, Knutson DL, Klee EW, Zimmermann MT, Iovanna J, Lomberk GA, Urrutia RA. Aurora kinase B-phosphorylated HP1alpha functions in chromosomal instability. Cell Cycle. 2019 Jun; 18 (12):1407-1421 Epub 2019 May 26
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  19. Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. Eur J Hum Genet. 2019 May; 27 (5):738-746 Epub 2019 Jan 24
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  20. Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78 (5):460-466
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  21. Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, Arboleda VA, Newbury-Ecob R, DDD Study,. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2019 Apr; 21 (4):850-860 Epub 2018 Sept 24
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  22. Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL, Clayton-Smith J, DDD Study. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. Am J Med Genet A. 2019 Apr; 179 (4):570-578 Epub 2019 Feb 07
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  23. Klee EW, Zimmermann MT. Molecular modeling of LDLR aids interpretation of genomic variants. J Mol Med (Berl). 2019 Apr; 97 (4):533-540 Epub 2019 Feb 18
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  24. Camilleri M, Wieben E, Eckert D, Carlson P, Hurley O'Dwyer R, Gibbons D, Acosta A, Klee EW. Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association. Neurogastroenterol Motil. 2019 Apr; 31 (4):e13550 Epub 2019 Jan 20
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  25. Gupta A, Ewing SA, Renaud DL, Hasadsri L, Raymond KM, Klee EW, Gavrilova RH. Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. Clin Case Rep. 2019 Apr; 7 (4):632-637 Epub 2019 Feb 19
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  26. Wolking S, May P, Mei D, Moller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stohr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Clinical spectrum of STX1B-related epileptic disorders. Neurology. 2019 Mar 12; 92 (11):e1238-e1249 Epub 2019 Feb 08
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  27. Cogne B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjold M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla OL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk OL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denomme-Pichon AS, Ferec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bezieau S, Kury S, Campeau PM, CAUSES Study//Deciphering Developmental Disorders study. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 Mar 7; 104 (3):530-541 Epub 2019 Feb 28
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  28. Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 Mar 1; 129 (3):1240-1256 Epub 2019 Feb 11
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  29. Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW. RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. Mol Genet Genomic Med. 2019 Mar; 7 (3):e00560 Epub 2019 Jan 10
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  30. Greenberg-Worisek AJ, Campbell KA, Klee EW, Staff NP, Schimmenti LA, Weavers KM, Ekker SC, Windebank AJ. Case-Based Learning in Translational Biomedical Research Education: Providing Realistic and Adaptive Skills for Early-Career Scientists. Acad Med. 2019 Feb; 94 (2):213-216
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  31. Rusheen AE, Smadbeck JB, Schimmenti LA, Klee EW, Link MJ, Vasmatzis G, Carlson ML. Proposal for Modification of Cahan's Criteria Utilizing Molecular Genetic Analyses for Cases without Baseline Histopathology: A Unique Method Applicable to Primary Radiosurgery. J Neurol Surg B Skull Base. 2019 Feb; 80 (1):10-17 Epub 2018 May 31
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  32. Oliver GR, Tang X, Schultz-Rogers LE, Vidal-Folch N, Jenkinson WG, Schwab TL, Gaonkar K, Cousin MA, Nair A, Basu S, Chanana P, Oglesbee D, Klee EW. A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. PLoS One. 2019; 14 (10):e0223337 Epub 2019 Oct 02
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  33. Kendig KI, Baheti S, Bockol MA, Drucker TM, Hart SN, Heldenbrand JR, Hernaez M, Hudson ME, Kalmbach MT, Klee EW, Mattson NR, Ross CA, Taschuk M, Wieben ED, Wiepert M, Wildman DE, Mainzer LS. Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy. Front Genet. 2019; 10:736 Epub 2019 Aug 20
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  34. Lorenzo-Betancor O, Blackburn PR, Edwards E, Vazquez-do-Campo R, Klee EW, Labbe C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA. PCNT point mutations and familial intracranial aneurysms. Neurology. 2018 Dec 4; 91 (23):e2170-e2181 Epub 2018 Nov 09
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  35. Boczek NJ, Hopp K, Benoit L, Kraft D, Cousin MA, Blackburn PR, Madsen CD, Oliver GR, Nair AA, Na J, Bianchi DW, Beek G, Harris PC, Pichurin P, Klee EW. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. Eur J Hum Genet. 2018 Dec; 26 (12):1797-1809 Epub 2018 Aug 10
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  36. Blackburn PR, Chacon-Camacho OF, Ortiz-Gonzalez XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. Am J Med Genet A. 2018 Dec; 176 (12):2710-2719 Epub 2018 Nov 18
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  37. Morales-Rosado JA, Kaiwar C, Smith BE, Klee EW, Dhamija R. A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis. Am J Med Genet A. 2018 Dec; 176 (12):2846-2849 Epub 2018 Dec 14
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  38. Pinto E Vairo F, Conboy E, de Souza CFM, Jones A, Barnett SS, Klee EW, Lanpher BC. Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls. Pediatrics. 2018 Dec; 142 (6)
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  39. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC, Task Force for Neonatal Genomics//Deciphering Developmental Disorders Study. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Nov 1; 103 (5):666-678 Epub 2018 Oct 18
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  40. Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR. Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. Mol Genet Genomic Med. 2018 Nov; 6 (6):1229-1235 Epub 2018 Sept 05
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  41. Pinto E Vairo F, Bertsch N, Klee EW, Gavrilova RH. GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease. Acta Neuropathol Commun 2018 Oct 24; 6 (1):112
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  42. Carlson ML, Smadbeck JB, Link MJ, Klee EW, Vasmatzis G, Schimmenti LA. Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants. Otol Neurotol. 2018 Oct; 39 (9):e860-e871
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  108. 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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  109. McDonnell SK, Riska SM, Klee EW, Thorland EC, Kay NE, Thibodeau SN, Parker AS, Eckel-Passow JE. Experimental designs for array comparative genomic hybridization technology. Cytogenet Genome Res. 2013; 139 (4):250-7 Epub 2013 Mar 27
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  110. 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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  111. 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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  112. Klee EW, Schneider H, Clark KJ, Cousin MA, Ebbert JO, Hooten WM, Karpyak VM, Warner DO, Ekker SC. Zebrafish: a model for the study of addiction genetics. Hum Genet. 2012 Jun; 131 (6):977-1008 Epub 2011 Dec 30
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  113. 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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  114. 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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  115. 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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  116. 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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  117. 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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  118. 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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  119. 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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  120. 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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  121. 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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  122. 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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  123. 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; 56(8):1297-306.
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  124. 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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  125. 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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  126. 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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  127. 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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  128. 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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  129. Klee EW. The zebrafish secretome. Zebrafish. 2008 Summer; 5 (2):131-8
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  130. Kosari F, Munz JM, Savci-Heijink CD, Spiro C, Klee EW, Kube DM, Tillmans L, Slezak J, Karnes RJ, Cheville JC, Vasmatzis G. Identification of prognostic biomarkers for prostate cancer. Clin Cancer Res. 2008 Mar 15; 14 (6):1734-43
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  131. Klee EW. Data mining for biomarker development: a review of tissue specificity analysis. Clin Lab Med. 2008 Mar; 28(1):127-43, viii.
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  132. 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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  133. 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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  134. 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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  135. 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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  136. 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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  137. 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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  138. 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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  139. Klee EW, Ellis LB. Evaluating eukaryotic secreted protein prediction. BMC Bioinformatics. 2005; 6:256 Epub 2005 Oct 14.
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  140. Klee EW, Carlson DF, Fahrenkrug SC, Ekker SC, Ellis LB. Identifying secretomes in people, pufferfish and pigs. Nucleic Acids Res. 2004 Feb 27; 32(4):1414-21.
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  141. Klee EW, Ekker SC, Ellis LB. Target selection for Danio rerio functional genomics. Genesis. 2001 Jul; 30(3):123-5.
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