| Year |
Citation |
Score |
| 2021 |
Bowles B, Clark K, Klee E. 95233 Analysis of 5'UTR Variation in Rare Disease Patients Reveals Variants of Potential Disease Relevance Journal of Clinical and Translational Science. 5: 101-101. DOI: 10.1017/CTS.2021.659 |
0.303 |
|
| 2020 |
Schultz-Rogers L, Masuho I, Pinto E Vairo F, Schmitz CT, Schwab TL, Clark KJ, Gunderson L, Pichurin PN, Wierenga K, Martemyanov KA, Klee EW. Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder. Molecular Genetics & Genomic Medicine. e1477. PMID 32918542 DOI: 10.1002/Mgg3.1477 |
0.319 |
|
| 2020 |
Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. American Journal of Medical Genetics. Part A. PMID 32815268 DOI: 10.1002/Ajmg.A.61792 |
0.341 |
|
| 2020 |
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, ... ... Klee E, et al. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32814847 DOI: 10.1038/S41436-020-00944-7 |
0.309 |
|
| 2020 |
Pinto E Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW. Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa. Thrombosis Research. 195: 187-189. PMID 32721632 DOI: 10.1016/J.Thromres.2020.07.014 |
0.328 |
|
| 2020 |
Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I, Prasolava T, Shum N, Hamdan O, Pellecchia G, ... ... Klee EW, et al. Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature. PMID 32717741 DOI: 10.1038/S41586-020-2579-Z |
0.362 |
|
| 2020 |
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. Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype. Haematologica. PMID 32646888 DOI: 10.3324/Haematol.2020.259275 |
0.325 |
|
| 2020 |
Morales-Rosado JA, Goel K, Zhang L, Åkerblom A, Baheti S, Black JL, Eriksson N, Wallentin L, James S, Storey RF, Goodman SG, Jenkins GD, Eckloff BW, Bielinski SJ, Sicotte H, ... ... Klee EW, et al. Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics. Cardiovascular Drugs and Therapy. PMID 32623598 DOI: 10.1007/S10557-020-06988-W |
0.332 |
|
| 2020 |
Morales-Rosado JA, Macke EL, Cousin MA, Oliver GR, Dhamija R, Klee EW. Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia. Molecular Genetics & Genomic Medicine. e1341. PMID 32597037 DOI: 10.1002/Mgg3.1341 |
0.329 |
|
| 2020 |
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, ... ... Klee EW, et al. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European Journal of Human Genetics : Ejhg. PMID 32483341 DOI: 10.1038/S41431-020-0654-4 |
0.359 |
|
| 2020 |
Cordeddu V, Macke EL, Radio FC, Cicero SL, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, ... ... Klee E, et al. Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome. Clinical Genetics. PMID 32415735 DOI: 10.1111/Cge.13775 |
0.343 |
|
| 2020 |
Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, ... ... Klee EW, et al. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32366965 DOI: 10.1038/S41436-020-0815-4 |
0.369 |
|
| 2020 |
Jenkinson G, Li YI, Basu S, Cousin MA, Oliver GR, Klee EW. LeafCutterMD: an algorithm for outlier splicing detection in rare diseases. Bioinformatics (Oxford, England). PMID 32315392 DOI: 10.1093/Bioinformatics/Btaa259 |
0.363 |
|
| 2020 |
Oliver GR, Jenkinson G, Klee EW. Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research. Frontiers in Genetics. 11: 173. PMID 32180803 DOI: 10.3389/Fgene.2020.00173 |
0.352 |
|
| 2020 |
Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, ... ... Klee EW, et al. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. PMID 32135084 DOI: 10.1016/J.Neuron.2020.01.042 |
0.325 |
|
| 2020 |
Taruscio D, Baynam G, Cederroth H, Groft SC, Klee EW, Kosaki K, Lasko P, Melegh B, Riess O, Salvatore M, Gahl WA. The Undiagnosed Diseases Network International: Five years and more! Molecular Genetics and Metabolism. 129: 243-254. PMID 32033911 DOI: 10.1016/J.Ymgme.2020.01.004 |
0.317 |
|
| 2020 |
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, ... ... Klee EW, et al. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European Journal of Human Genetics : Ejhg. PMID 32005960 DOI: 10.1038/S41431-020-0571-6 |
0.347 |
|
| 2020 |
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, ... ... Klee EW, et al. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nature Communications. 11: 595. PMID 32001716 DOI: 10.1038/S41467-020-14360-7 |
0.327 |
|
| 2020 |
Slavotinek A, van Hagen JM, Kalsner L, Pai S, Davis-Keppen L, Ohden L, Weber YG, Macke EL, Klee EW, Morava E, Gunderson L, Person R, Liu S, Weiss M. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. European Journal of Medical Genetics. 103850. PMID 31954878 DOI: 10.1016/J.Ejmg.2020.103850 |
0.39 |
|
| 2020 |
Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Protein-elongating mutations in MYH11 are implicated in a dominantly-inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Human Mutation. PMID 31944481 DOI: 10.1002/Humu.23986 |
0.374 |
|
| 2020 |
Hall EG, Wenger LW, Wilson NR, Undurty-Akella SS, Standley J, Augustine-Akpan EA, Kousa YA, Acevedo DS, Goering JP, Pitstick L, Natsume N, Paroya SM, Busch TD, Ito M, Mori A, ... ... Klee EW, et al. SPECC1L regulates palate development downstream of IRF6. Human Molecular Genetics. PMID 31943082 DOI: 10.1093/Hmg/Ddaa002 |
0.357 |
|
| 2019 |
Vaubel RA, Tian S, Remonde D, Schroeder MA, Mladek AC, Kitange GJ, Caron A, Kollmeyer TM, Grove R, Peng S, Carlson BL, Ma DJ, Sarkar G, Evers L, Decker PA, ... ... Klee EW, et al. Genomic and phenotypic characterization of a broad panel of patient derived xenografts reflects the diversity of glioblastoma. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 31852831 DOI: 10.1158/1078-0432.Ccr-19-0909 |
0.333 |
|
| 2019 |
Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA. Clinical and Biochemical Phenotypes in a Family with ENPP1 Mutations. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 31826312 DOI: 10.1002/Jbmr.3938 |
0.31 |
|
| 2019 |
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, ... ... Klee EW, et al. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. European Journal of Medical Genetics. 103817. PMID 31778854 DOI: 10.1016/J.Ejmg.2019.103817 |
0.352 |
|
| 2019 |
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, ... ... Klee EW, et al. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31578471 DOI: 10.1038/S41436-019-0657-0 |
0.345 |
|
| 2019 |
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. 14: e0223337. PMID 31577830 DOI: 10.1371/Journal.Pone.0223337 |
0.351 |
|
| 2019 |
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, et al. Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy. Frontiers in Genetics. 10: 736. PMID 31481971 DOI: 10.3389/Fgene.2019.00736 |
0.315 |
|
| 2019 |
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 Harbor Molecular Case Studies. PMID 31427378 DOI: 10.1101/mcs.a004390 |
0.315 |
|
| 2019 |
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, ... ... Klee EW, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature Communications. 10: 3094. PMID 31300657 DOI: 10.1038/S41467-019-10910-W |
0.312 |
|
| 2019 |
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. American Journal of Medical Genetics. Part A. PMID 31240838 DOI: 10.1002/Ajmg.A.61274 |
0.399 |
|
| 2019 |
Zimmermann MT, Williams MM, Klee EW, Lomberk GA, Urrutia R. Modeling Post-Translational Modifications and Cancer-Associated Mutations that Impact the Heterochromatin Protein 1α-Importin Α Heterodimers. Proteins. PMID 31152607 DOI: 10.1002/Prot.25752 |
0.305 |
|
| 2019 |
Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur 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. European Journal of Human Genetics : Ejhg. PMID 31053785 DOI: 10.1038/S41431-019-0423-4 |
0.354 |
|
| 2019 |
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 gene variants. Clinical Case Reports. 7: 632-637. PMID 30997052 DOI: 10.1002/Ccr3.2010 |
0.353 |
|
| 2019 |
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, et al. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. Journal of Neuropathology and Experimental Neurology. 78: 460-466. PMID 30990878 DOI: 10.1093/Jnen/Nlz018 |
0.383 |
|
| 2019 |
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. European Journal of Human Genetics : Ejhg. PMID 30976111 DOI: 10.1038/S41431-019-0397-2 |
0.394 |
|
| 2019 |
Cogné 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, ... ... Klee EW, et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American Journal of Human Genetics. PMID 30827496 DOI: 10.1016/J.Ajhg.2019.01.010 |
0.38 |
|
| 2019 |
Klee EW, Zimmermann MT. Molecular modeling of LDLR aids interpretation of genomic variants. Journal of Molecular Medicine (Berlin, Germany). PMID 30778614 DOI: 10.1007/S00109-019-01755-3 |
0.372 |
|
| 2019 |
Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL, Clayton-Smith J. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. American Journal of Medical Genetics. Part A. PMID 30734472 DOI: 10.1002/Ajmg.A.61061 |
0.335 |
|
| 2019 |
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. Journal of Neurological Surgery. Part B, Skull Base. 80: 10-17. PMID 30733895 DOI: 10.1055/S-0038-1655759 |
0.342 |
|
| 2019 |
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, ... ... Klee EW, et al. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. European Journal of Human Genetics : Ejhg. PMID 30679813 DOI: 10.1038/S41431-018-0292-2 |
0.408 |
|
| 2019 |
Pant DC, Dorboz I, Schlüter 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, ... ... Klee EW, et al. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. The Journal of Clinical Investigation. PMID 30620337 DOI: 10.1172/Jci123959 |
0.324 |
|
| 2019 |
Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin M, Kuisle R, Kennedy CC, Coltro G, Gangat N, Hogan WJ, Litzow M, Peters S, Klee EW, Scott J, Utz JP, Baqir M, et al. Clinical Utility of Telomere Length-Directed Genomic Assessment in Patients with Short Telomere Syndromes Blood. 134: 1222-1222. DOI: 10.1182/Blood-2019-127185 |
0.321 |
|
| 2018 |
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. American Journal of Medical Genetics. Part A. PMID 30549423 DOI: 10.1002/Ajmg.A.40626 |
0.399 |
|
| 2018 |
Blackburn PR, Chacon-Camacho OF, Ortiz-González 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, ... ... Klee EW, et al. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. American Journal of Medical Genetics. Part A. PMID 30450772 DOI: 10.1002/Ajmg.A.40644 |
0.355 |
|
| 2018 |
Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, et al. point mutations and familial intracranial aneurysms. Neurology. PMID 30413633 DOI: 10.1212/Wnl.0000000000006614 |
0.3 |
|
| 2018 |
Vairo FPE, Ferrer A, Cathcart-Rake E, King RL, Howard MT, Viswanatha DS, Klee EW, Mangaonkar AA, Patnaik MM. Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia. Leukemia & Lymphoma. 1-3. PMID 30407884 DOI: 10.1080/10428194.2018.1522443 |
0.302 |
|
| 2018 |
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. Clinical Immunology (Orlando, Fla.). PMID 30282051 DOI: 10.1016/J.Clim.2018.09.013 |
0.364 |
|
| 2018 |
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, ... ... Klee E, et al. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30245513 DOI: 10.1038/S41436-018-0259-2 |
0.366 |
|
| 2018 |
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. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. PMID 30106846 DOI: 10.1097/Mao.0000000000001932 |
0.34 |
|
| 2018 |
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. European Journal of Human Genetics : Ejhg. PMID 30097616 DOI: 10.1038/S41431-018-0222-3 |
0.434 |
|
| 2018 |
Zimmermann MT, Urrutia R, Cousin MA, Oliver GR, Klee EW. Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties. Frontiers in Genetics. 9: 276. PMID 30090112 DOI: 10.3389/Fgene.2018.00276 |
0.368 |
|
| 2018 |
Winters JL, Davila JI, McDonald AM, Nair AA, Fadra N, Wehrs RN, Thomas BC, Balcom JR, Jin L, Wu X, Voss JS, Klee EW, Oliver GR, Graham RP, Neff JL, et al. Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors. The Journal of Molecular Diagnostics : Jmd. PMID 29929942 DOI: 10.1016/J.Jmoldx.2018.03.007 |
0.318 |
|
| 2018 |
Lomberk G, Blum Y, Nicolle R, Nair A, Gaonkar KS, Marisa L, Mathison A, Sun Z, Yan H, Elarouci N, Armenoult L, Ayadi M, Ordog T, Lee JH, Oliver G, ... Klee E, et al. Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes. Nature Communications. 9: 1978. PMID 29773832 DOI: 10.1038/S41467-018-04383-6 |
0.317 |
|
| 2018 |
Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. American Journal of Human Genetics. PMID 29606302 DOI: 10.1016/J.Ajhg.2018.02.018 |
0.316 |
|
| 2018 |
Lincoln S, Zook J, Truty R, Chowdhury S, Fellowes A, Mahamdallie S, Ferber M, Cleveland M, Huang C, Tomson F, Klee E, DeSilva W, Seal S, Aradhya S, Nussbaum R, et al. Abstract P4-06-08: An interlaboratory study of complex mutation detection in genes associated with hereditary breast and ovarian cancer highlights both successes and current challenges Cancer Research. 78. DOI: 10.1158/1538-7445.Sabcs17-P4-06-08 |
0.378 |
|
| 2018 |
Ida C, Barr Fritcher E, Zysk C, Voss J, Wu X, Balan J, Kollmeyer T, Raghunathan A, Giannini C, Klee E, Kipp B, Jenkins R. PATH-26. NEURO-ONCOLOGY NEXT-GENERATION SEQUENCING 219-GENE PANEL FOR COMPREHENSIVE CLINICAL TESTING Neuro-Oncology. 20: vi164-vi164. DOI: 10.1093/Neuonc/Noy148.682 |
0.329 |
|
| 2017 |
Roy S, Coldren C, Karunamurthy A, Kip NS, Klee EW, Lincoln SE, Leon A, Pullambhatla M, Temple-Smolkin RL, Voelkerding KV, Wang C, Carter AB. Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists. The Journal of Molecular Diagnostics : Jmd. PMID 29154853 DOI: 10.1016/J.Jmoldx.2017.11.003 |
0.339 |
|
| 2017 |
Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, et al. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain : a Journal of Neurology. 140: 2337-2354. PMID 29050392 DOI: 10.1093/Brain/Awx184 |
0.328 |
|
| 2017 |
Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Maple syrup urine disease: mechanisms and management. The Application of Clinical Genetics. 10: 57-66. PMID 28919799 DOI: 10.2147/Tacg.S125962 |
0.315 |
|
| 2017 |
Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW. The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients. Molecular Genetics and Metabolism Reports. 13: 46-51. PMID 28831385 DOI: 10.1016/J.Ymgmr.2017.08.001 |
0.381 |
|
| 2017 |
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. Hereditary Cancer in Clinical Practice. 15: 10. PMID 28736585 DOI: 10.1186/S13053-017-0070-0 |
0.32 |
|
| 2017 |
Blackburn PR, Selcen D, Gass JM, Jackson JL, Macklin S, Cousin MA, Boczek NJ, Klee EW, Dimberg EL, Kennelly KD, Atwal PS. Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. Molecular Genetics & Genomic Medicine. 5: 295-302. PMID 28547000 DOI: 10.1002/Mgg3.280 |
0.312 |
|
| 2017 |
Cousin MA, Matey ET, Blackburn PR, Boczek NJ, McAllister TM, Kruisselbrink TM, Babovic-Vuksanovic D, Lazaridis KN, Klee EW. Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients. Molecular Genetics & Genomic Medicine. 5: 269-279. PMID 28546997 DOI: 10.1002/Mgg3.283 |
0.337 |
|
| 2017 |
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 Reports in Genetics. 2017: 9184265. PMID 28487785 DOI: 10.1155/2017/9184265 |
0.332 |
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| 2017 |
Tian S, Yan H, Klee EW, Kalmbach M, Slager SL. Comparative analysis of de novo assemblers for variation discovery in personal genomes. Briefings in Bioinformatics. PMID 28407084 DOI: 10.1093/Bib/Bbx037 |
0.343 |
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| 2017 |
Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. American Journal of Medical Genetics. Part A. PMID 28322501 DOI: 10.1002/Ajmg.A.38113 |
0.341 |
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| 2017 |
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, ... ... Klee EW, et al. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nature Genetics. PMID 28288114 DOI: 10.1038/Ng.3808 |
0.317 |
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| 2017 |
Zimmermann MT, Urrutia R, Oliver GR, Blackburn PR, Cousin MA, Bozeck NJ, Klee EW. 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. Plos One. 12: e0170822. PMID 28182693 DOI: 10.1371/Journal.Pone.0170822 |
0.344 |
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| 2017 |
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 Reports in Genetics. 2017: 7263780. PMID 28163941 DOI: 10.1155/2017/7263780 |
0.361 |
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| 2017 |
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. European Journal of Human Genetics : Ejhg. PMID 28145427 DOI: 10.1038/Ejhg.2016.193 |
0.383 |
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| 2017 |
Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk GA, Auton M, Urrutia RA, Klee EW. A Novel Kleefstra Syndrome Associated Variant that Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. The Journal of Biological Chemistry. PMID 28057753 DOI: 10.1074/Jbc.M116.770545 |
0.394 |
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| 2016 |
Rouchka EC, Chariker JH, Harrison BJ, Park JW, Cao X, Pounds S, Raimondi S, Downing J, Ribeiro R, Rubnitz J, Lamba J, Daigle BJ, Burgess D, Gehrlich S, Carmen JC, ... ... Klee EW, et al. Proceedings of the 15th Annual UT-KBRIN Bioinformatics Summit 2016 Bmc Bioinformatics. 17: 297. PMID 28166713 DOI: 10.1186/S12859-016-1154-Y |
0.307 |
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| 2016 |
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. 10: 502-506. PMID 27929804 DOI: 10.1080/19336896.2016.1254858 |
0.332 |
|
| 2016 |
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 Medical Genetics. 17: 93. PMID 27919237 DOI: 10.1186/S12881-016-0354-7 |
0.322 |
|
| 2016 |
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. Clinical Case Reports. 4: 885-895. PMID 27648269 DOI: 10.1002/Ccr3.655 |
0.351 |
|
| 2016 |
Oliver GR, Zimmerman MT, Klee EW, Urrutia RA. "The molecule's the thing:" the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results. F1000research. 5: 766. PMID 27408685 DOI: 10.12688/F1000Research.8600.3 |
0.365 |
|
| 2016 |
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, ... ... Klee EW, et al. Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated With Liver Cirrhosis and Hepatocellular Carcinoma. Human Mutation. PMID 27397503 DOI: 10.1002/Humu.23047 |
0.325 |
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| 2016 |
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, et al. 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. The Journal of Molecular Diagnostics : Jmd. PMID 26947514 DOI: 10.1016/J.Jmoldx.2016.01.003 |
0.35 |
|
| 2015 |
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. American Journal of Clinical Pathology. 143: 879-88. PMID 25972331 DOI: 10.1309/Ajcpu3J7Fgayqbrl |
0.307 |
|
| 2015 |
Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing. The Journal of Molecular Diagnostics : Jmd. 17: 456-61. PMID 25960255 DOI: 10.1016/J.Jmoldx.2015.03.004 |
0.356 |
|
| 2015 |
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. Journal of Thoracic Oncology : Official Publication of the International Association For the Study of Lung Cancer. 10: 531-4. PMID 25695224 DOI: 10.1097/Jto.0000000000000391 |
0.308 |
|
| 2015 |
Oliver GR, Hart SN, Klee EW. Bioinformatics for clinical next generation sequencing Clinical Chemistry. 61: 124-135. PMID 25451870 DOI: 10.1373/Clinchem.2014.224360 |
0.329 |
|
| 2015 |
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. Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association. 13: 202-6. PMID 24997326 DOI: 10.1016/J.Cgh.2014.06.024 |
0.331 |
|
| 2014 |
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. Circulation. Cardiovascular Genetics. 7: 607-14. PMID 25122053 DOI: 10.1161/Circgenetics.113.000233 |
0.357 |
|
| 2014 |
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 Cytopathology. 122: 822-32. PMID 25045116 DOI: 10.1002/Cncy.21464 |
0.308 |
|
| 2014 |
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. American Journal of Physiology. Gastrointestinal and Liver Physiology. 306: G1089-98. PMID 24763552 DOI: 10.1152/Ajpgi.00068.2014 |
0.309 |
|
| 2014 |
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, et al. Implementing individualized medicine into the medical practice. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 166: 15-23. PMID 24616301 DOI: 10.1002/Ajmg.C.31387 |
0.319 |
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| 2014 |
Borad MJ, Champion MD, Egan JB, Liang WS, Fonseca R, Bryce AH, McCullough AE, Barrett MT, Hunt K, Patel MD, Young SW, Collins JM, Silva AC, Condjella RM, Block M, ... ... Klee EW, et al. Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma. Plos Genetics. 10: e1004135. PMID 24550739 DOI: 10.1371/Journal.Pgen.1004135 |
0.353 |
|
| 2014 |
Pickart MA, Klee EW. Zebrafish approaches enhance the translational research tackle box. Translational Research : the Journal of Laboratory and Clinical Medicine. 163: 65-78. PMID 24269745 DOI: 10.1016/J.Trsl.2013.10.007 |
0.329 |
|
| 2014 |
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. American Journal of Physiology. Gastrointestinal and Liver Physiology. 306: G13-26. PMID 24200957 DOI: 10.1152/Ajpgi.00294.2013 |
0.345 |
|
| 2014 |
Acosta A, Carlson P, Busciglio IA, Gibbons SJ, Farrugia G, Klee EW, Camilleri M. 64 RNA Sequencing Shows Transcriptomic Changes in Rectosigmoid Mucosa in Patients With Irritable Bowel Syndrome-Diarrhea Gastroenterology. 146. DOI: 10.1016/S0016-5085(14)60064-0 |
0.308 |
|
| 2013 |
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, et al. A sequence-based variation map of zebrafish. Zebrafish. 10: 15-20. PMID 23590399 DOI: 10.1089/Zeb.2012.0848 |
0.347 |
|
| 2013 |
Patnaik MM, Klee E, Wieben ED, Dingli D. Genomics Of Familial Myelodysplastic Syndromes and Acute Myeloid Leukemia Blood. 122: 2803-2803. DOI: 10.1182/Blood.V122.21.2803.2803 |
0.365 |
|
| 2013 |
Juran BD, Klee EW, Li Y, Schlicht E, Lazaridis K. 212 Exome Sequencing in Families Identifies Rare Variants in Cell Junction Associated Proteins Representing a Potential Link Between Genetic Variation and Liver-Targeted Autoimmunity in Primary Biliary Cirrhosis Gastroenterology. 144. DOI: 10.1016/S0016-5085(13)63493-9 |
0.343 |
|
| 2012 |
Sun Z, Baheti S, Middha S, Kanwar R, Zhang Y, Li X, Beutler AS, Klee E, Asmann YW, Thompson EA, Kocher JP. SAAP-RRBS: streamlined analysis and annotation pipeline for reduced representation bisulfite sequencing. Bioinformatics (Oxford, England). 28: 2180-1. PMID 22689387 DOI: 10.1093/Bioinformatics/Bts337 |
0.304 |
|
| 2012 |
Asmann YW, Middha S, Hossain A, Baheti S, Li Y, Chai HS, Sun Z, Duffy PH, Hadad AA, Nair A, Liu X, Zhang Y, Klee EW, Kalari KR, Kocher JP. TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data. Bioinformatics (Oxford, England). 28: 277-8. PMID 22088845 DOI: 10.1093/Bioinformatics/Btr612 |
0.335 |
|
| 2011 |
Klee EW, Hoppman-Chaney NL, Ferber MJ. Expanding DNA diagnostic panel testing: is more better? Expert Review of Molecular Diagnostics. 11: 703-9. PMID 21902532 DOI: 10.1586/Erm.11.58 |
0.353 |
|
| 2011 |
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 Clinic Proceedings. 86: 606-14. PMID 21646302 DOI: 10.4065/Mcp.2011.0178 |
0.329 |
|
| 2011 |
Hoppman-Chaney N, Peterson LM, Klee EW, Middha S, Courteau LK, Ferber MJ. Erratum: Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics (Clinical Chemistry (2010) 56 (1297-1306) DOI: 10.1373/clinchem. 2010.145441) Clinical Chemistry. 57. DOI: 10.1373/Clinchem.2010.158063 |
0.324 |
|
| 2010 |
Hoppman-Chaney N, Peterson LM, Klee EW, Middha S, Courteau LK, Ferber MJ. Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics. Clinical Chemistry. 56: 1297-306. PMID 20562348 DOI: 10.1373/Clinchem.2010.145441 |
0.349 |
|
| 2008 |
Klee EW. Data mining for biomarker development: a review of tissue specificity analysis. Clinics in Laboratory Medicine. 28: 127-43, viii. PMID 18194723 DOI: 10.1016/J.Cll.2007.10.009 |
0.317 |
|
| 2006 |
Klee EW, Finlay JA, McDonald C, Attewell JR, Hebrink D, Dyer R, Love B, Vasmatzis G, Li TM, Beechem JM, Klee GG. Bioinformatics methods for prioritizing serum biomarker candidates. Clinical Chemistry. 52: 2162-4. PMID 18061989 DOI: 10.1373/Clinchem.2006.072868 |
0.304 |
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| 2006 |
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, et al. Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. Plos One. 1: e104. PMID 17218990 DOI: 10.1371/Journal.Pone.0000104 |
0.356 |
|
| 2005 |
Klee EW, Shim KJ, Pickart MA, Ekker SC, Ellis LB. AMOD: a morpholino oligonucleotide selection tool. Nucleic Acids Research. 33: W506-11. PMID 15980523 DOI: 10.1093/Nar/Gki453 |
0.324 |
|
| 2004 |
Klee EW, Carlson DF, Fahrenkrug SC, Ekker SC, Ellis LB. Identifying secretomes in people, pufferfish and pigs. Nucleic Acids Research. 32: 1414-21. PMID 14990746 DOI: 10.1093/Nar/Gkh286 |
0.308 |
|
| 2001 |
Klee EW, Ekker SC, Ellis LB. Target selection for Danio rerio functional genomics. Genesis (New York, N.Y. : 2000). 30: 123-5. PMID 11477688 DOI: 10.1002/Gene.1045 |
0.318 |
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