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Reference EntriesFull Text
Klee, Eric W
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: ING-KNI, 2022, p.6073-6073
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Klee, Eric W
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: ING-KNI, 2021, p.6052-6052
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ArticlesPeer ReviewedFull Text
Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG
Author / Creator:Houwink, Elisa J. F. ; Klee, Eric W.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.251-252
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Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma
Author / Creator:Borad, Mitesh J. ; Champion, Mia D. ; Egan, Jan B. ; Liang, Winnie S. ; Fonseca, Rafael ; Bryce, Alan H. ; McCullough, Ann E. ; Barrett, Michael T. ; Hunt, Katherine ; Patel, Maitray D. ; Young, Scott W. ; Collins, Joseph M. ; Silva, Alvin C. ; Condjella, Rachel M. ; Block, Matthew ; McWilliams, Robert R. ; Lazaridis, Konstantinos N. ; Klee, Eric W. ; Bible, Keith C. ; Harris, Pamela ; Oliver, Gavin R. ; Bhavsar, Jaysheel D. ; Nair, Asha A. ; Middha, Sumit ; Asmann, Yan ; Kocher, Jean-Pierre ; Schahl, Kimberly ; Kipp, Benjamin R. ; Barr Fritcher, Emily G. ; Baker, Angela ; Aldrich, Jessica ; Kurdoglu, Ahmet ; Izatt, Tyler ; Christoforides, Alexis ; Cherni, Irene ; Nasser, Sara ; Reiman, Rebecca ; Phillips, Lori ; McDonald, Jackie ; Adkins, Jonathan ; Mastrian, Stephen D. ; Placek, Pamela ; Watanabe, Aprill T. ; LoBello, Janine ; Han, Haiyong ; Von Hoff, Daniel ; Craig, David W. ; Stewart, A. Keith ; Carpten, John D.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2014-02, Vol.10 (2), p.e1004135-e1004135
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ArticlesPeer ReviewedFull Text
Bioinformatics for Clinical Next Generation Sequencing
Author / Creator:Oliver, Gavin R ; Hart, Steven N ; Klee, Eric W
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2015-01, Vol.61 (1), p.124-135
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A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditions
Author / Creator:Gnanaolivu, Rohan ; Oliver, Gavin ; Jenkinson, Garrett ; Blake, Emily ; Chen, Wenan ; Chia, Nicholas ; Klee, Eric W. ; Wang, Chen
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2025-03, Vol.26 (1), p.82-17, Article 82
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ArticlesPeer ReviewedFull Text
HELLO: improved neural network architectures and methodologies for small variant calling
Author / Creator:Ramachandran, Anand ; Lumetta, Steven S. ; Klee, Eric W. ; Chen, Deming
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2021-08, Vol.22 (1), p.404-31, Article 404
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ArticlesPeer ReviewedFull Text
Genome-wide detection of tandem DNA repeats that are expanded in autism
Author / Creator:Trost, Brett ; Engchuan, Worrawat ; Nguyen, Charlotte M. ; Thiruvahindrapuram, Bhooma ; Dolzhenko, Egor ; Backstrom, Ian ; Mirceta, Mila ; Mojarad, Bahareh A. ; Yin, Yue ; Dov, Alona ; Chandrakumar, Induja ; Prasolava, Tanya ; Shum, Natalie ; Hamdan, Omar ; Pellecchia, Giovanna ; Howe, Jennifer L. ; Whitney, Joseph ; Klee, Eric W. ; Baheti, Saurabh ; Amaral, David G. ; Anagnostou, Evdokia ; Elsabbagh, Mayada ; Fernandez, Bridget A. ; Hoang, Ny ; Lewis, M. E. Suzanne ; Liu, Xudong ; Sjaarda, Calvin ; Smith, Isabel M. ; Szatmari, Peter ; Zwaigenbaum, Lonnie ; Glazer, David ; Hartley, Dean ; Stewart, A. Keith ; Eberle, Michael A. ; Sato, Nozomu ; Pearson, Christopher E. ; Scherer, Stephen W. ; Yuen, Ryan K. C.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2020-10, Vol.586 (7827), p.80-86
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ArticlesPeer ReviewedFull Text
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Author / Creator:Pant, Devesh C. ; Dorboz, Imen ; Schluter, Agatha ; Fourcade, Stéphane ; Launay, Nathalie ; Joya, Javier ; Aguilera-Albesa, Sergio ; Yoldi, Maria Eugenia ; Casasnovas, Carlos ; Willis, Mary J. ; Ruiz, Montserrat ; Ville, Dorothée ; Lesca, Gaetan ; Siquier-Pernet, Karine ; Desguerre, Isabelle ; Yan, Huifang ; Wang, Jingmin ; Burmeister, Margit ; Brady, Lauren ; Tarnopolsky, Mark ; Cornet, Carles ; Rubbini, Davide ; Terriente, Javier ; James, Kiely N. ; Musaev, Damir ; Zaki, Maha S. ; Patterson, Marc C. ; Lanpher, Brendan C. ; Klee, Eric W. ; Pinto e Vairo, Filippo ; Wohler, Elizabeth ; Sobreira, Nara Lygia de M. ; Cohen, Julie S. ; Maroofian, Reza ; Galehdari, Hamid ; Mazaheri, Neda ; Shariati, Gholamreza ; Colleaux, Laurence ; Rodriguez, Diana ; Gleeson, Joseph G. ; Pujades, Cristina ; Fatemi, Ali ; Boespflug-Tanguy, Odile ; Pujol, Aurora
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2019-03, Vol.129 (3), p.1240-1256
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ArticlesPeer ReviewedFull Text
Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes
Author / Creator:Lomberk, Gwen ; Blum, Yuna ; Nicolle, Rémy ; Nair, Asha ; Gaonkar, Krutika Satish ; Marisa, Laetitia ; Mathison, Angela ; Sun, Zhifu ; Yan, Huihuang ; Elarouci, Nabila ; Armenoult, Lucile ; Ayadi, Mira ; Ordog, Tamas ; Lee, Jeong-Heon ; Oliver, Gavin ; Klee, Eric ; Moutardier, Vincent ; Gayet, Odile ; Bian, Benjamin ; Duconseil, Pauline ; Gilabert, Marine ; Bigonnet, Martin ; Garcia, Stephane ; Turrini, Olivier ; Delpero, Jean-Robert ; Giovannini, Marc ; Grandval, Philippe ; Gasmi, Mohamed ; Secq, Veronique ; De Reyniès, Aurélien ; Dusetti, Nelson ; Iovanna, Juan ; Urrutia, Raul
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-05, Vol.9 (1), p.1978-10, Article 1978
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ArticlesPeer ReviewedFull Text
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
Author / Creator:Oliver, Gavin R. ; Tang, Xiaojia ; Schultz-Rogers, Laura E. ; Vidal-Folch, Noemi ; Jenkinson, W. Garrett ; Schwab, Tanya L. ; Gaonkar, Krutika ; Cousin, Margot A. ; Nair, Asha ; Basu, Shubham ; Chanana, Pritha ; Oglesbee, Devin ; Klee, Eric W.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-10, Vol.14 (10), p.e0223337-e0223337
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ArticlesPeer ReviewedFull Text
Maple syrup urine disease: mechanisms and management
Author / Creator:Blackburn, Patrick ; Gass, Jennifer ; Pinto e Vairo, Filippo ; Farnham, Kristen ; Atwal, Herjot ; Macklin, Sarah ; Klee, Eric ; Atwal, Paldeep
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Application of clinical genetics, 2017-01, Vol.10, p.57-66
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ArticlesPeer ReviewedFull Text
3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer
Author / Creator:Asmann, Yan W ; Klee, Eric W ; Thompson, E Aubrey ; Perez, Edith A ; Middha, Sumit ; Oberg, Ann L ; Therneau, Terry M ; Smith, David I ; Poland, Gregory A ; Wieben, Eric D ; Kocher, Jean-Pierre A
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2009-11, Vol.10 (1), p.531-531, Article 531
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ArticlesPeer ReviewedFull Text
Expanding Upon Genomics in Rare Diseases: Epigenomic Insights
Author / Creator:Tan, Jia W. ; Blake, Emily J. ; Farris, Joseph D. ; Klee, Eric W.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-12, Vol.26 (1), p.135
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ArticlesPeer ReviewedFull Text
Molecular modeling of LDLR aids interpretation of genomic variants
Author / Creator:Klee, Eric W. ; Zimmermann, Michael T.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of molecular medicine (Berlin, Germany), 2019-04, Vol.97 (4), p.533-540
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Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing
Author / Creator:Zimmermann, Michael T. ; Urrutia, Raul ; Oliver, Gavin R. ; Blackburn, Patrick R. ; Cousin, Margot A. ; Bozeck, Nicole J. ; Klee, Eric W.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-02, Vol.12 (2), p.e0170822-e0170822
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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
Author / Creator:Lincoln, Stephen E. ; Hambuch, Tina ; Zook, Justin M. ; Bristow, Sara L. ; Hatchell, Kathryn ; Truty, Rebecca ; Kennemer, Michael ; Shirts, Brian H. ; Fellowes, Andrew ; Chowdhury, Shimul ; Klee, Eric W. ; Mahamdallie, Shazia ; Cleveland, Megan H. ; Vallone, Peter M. ; Ding, Yan ; Seal, Sheila ; DeSilva, Wasanthi ; Tomson, Farol L. ; Huang, Catherine ; Garlick, Russell K. ; Rahman, Nazneen ; Salit, Marc ; Kingsmore, Stephen F. ; Ferber, Matthew J. ; Aradhya, Swaroop ; Nussbaum, Robert L.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-09, Vol.23 (9), p.1673-1680
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LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth
Author / Creator:Oliver, Gavin R. ; Marcano-Bonilla, Sofia ; Quist, Jonathan ; Tolosa, Ezequiel J. ; Iguchi, Eriko ; Swanson, Amy A. ; Hoppman, Nicole L. ; Schwab, Tanya ; Sigafoos, Ashley ; Prodduturi, Naresh ; Voss, Jesse S. ; Knight, Shannon M. ; Zhang, Jin ; Fadra, Numrah ; Urrutia, Raul ; Zimmerman, Michael ; Egan, Jan B. ; Bilyeu, Anthony G. ; Jen, Jin ; Veras, Ema ; Al-Safi, Rema’a ; Block, Matthew ; Kerr, Sarah ; Fernandez-Zapico, Martin E. ; Schoolmeester, John K. ; Klee, Eric W.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2021-05, Vol.16 (5), p.e0250518-e0250518
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Recommendations for performance optimizations when using GATK3.8 and GATK4
Author / Creator:Heldenbrand, Jacob R ; Baheti, Saurabh ; Bockol, Matthew A ; Drucker, Travis M ; Hart, Steven N ; Hudson, Matthew E ; Iyer, Ravishankar K ; Kalmbach, Michael T ; Kendig, Katherine I ; Klee, Eric W ; Mattson, Nathan R ; Wieben, Eric D ; Wiepert, Mathieu ; Wildman, Derek E ; Mainzer, Liudmila S
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2019-11, Vol.20 (1), p.557-557, Article 557
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COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation
Author / Creator:Sankaranarayanan, Saranya ; Balan, Jagadheshwar ; Walsh, Jesse R ; Wu, Yanhong ; Minnich, Sara ; Piazza, Amy ; Osborne, Collin ; Oliver, Gavin R ; Lesko, Jessica ; Bates, Kathy L ; Khezeli, Kia ; Block, Darci R ; DiGuardo, Margaret ; Kreuter, Justin ; O’Horo, John C ; Kalantari, John ; Klee, Eric W ; Salama, Mohamed E ; Kipp, Benjamin ; Morice, William G ; Jenkinson, Garrett
Publisher:Toronto: Gunther Eysenbach MD MPH, Associate Professor
Journal title:Journal of medical Internet research, 2021-09, Vol.23 (9), p.e30157-e30157
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Klee, Eric W

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Klee, Eric W

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Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG

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Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma

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Bioinformatics for Clinical Next Generation Sequencing

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A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditions

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HELLO: improved neural network architectures and methodologies for small variant calling

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Genome-wide detection of tandem DNA repeats that are expanded in autism

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

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Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes

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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

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Maple syrup urine disease: mechanisms and management

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3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer

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Expanding Upon Genomics in Rare Diseases: Epigenomic Insights

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Molecular modeling of LDLR aids interpretation of genomic variants

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Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing

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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

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LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth

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Recommendations for performance optimizations when using GATK3.8 and GATK4

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COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation

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