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Robert P. Huether, Ph.D. - Publications

Affiliations: 
2011 Structural Biology State University of New York, Buffalo, Buffalo, NY, United States 
Area:
Bioinformatics Biology, Biochemistry
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52 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Carvill GL, Helbig KL, Myers CT, Scala M, Huether R, Lewis S, Kruer TN, Guida BS, Bakhtiari S, Sebe J, Tang S, Stickney H, Oktay SU, Bhandiwad AA, Ramsey K, et al. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Human Mutation. PMID 32196822 DOI: 10.1002/Humu.24015  0.311
2020 Islam SA, Huether R, Kudalkar E. Abstract 5474: Identification of novel druggable fusions enabled through the use of an automated RNA fusion prioritization pipeline Cancer Research. 80: 5474-5474. DOI: 10.1158/1538-7445.Am2020-5474  0.305
2019 Beaubier N, Tell R, Lau D, Parsons JR, Bush S, Perera J, Sorrells S, Baker T, Chang A, Michuda J, Iguartua C, MacNeil S, Shah K, Ellis P, Yeatts K, ... ... Huether R, et al. Clinical validation of the tempus xT next-generation targeted oncology sequencing assay. Oncotarget. 10: 2384-2396. PMID 31040929 DOI: 10.18632/Oncotarget.26797  0.307
2019 Chamberlin A, Huether R, Machado AZ, Groden M, Liu HM, Upadhyay K, O V, Gomes NL, Lerario AM, Nishi MY, Costa EMF, Mendonca B, Domenice S, Velasco J, Loke J, et al. Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein. Human Molecular Genetics. PMID 30608580 DOI: 10.1093/Hmg/Ddz002  0.328
2019 Sadaps M, Funchain P, Heald B, Huether R, Pitt J, White K, Khorana AA, Sohal D. A multi-institutional study assessing prevalence of deleterious germline mutations in pancreatic cancer. Journal of Clinical Oncology. 37: 280-280. DOI: 10.1200/Jco.2019.37.4_Suppl.280  0.323
2018 Mester JL, Ghosh R, Pesaran T, Huether R, Karam R, Hruska KS, Costa HA, Lachlan K, Ngeow J, Barnholtz-Sloan J, Sesock K, Hernandez F, Zhang L, Milko L, Plon SE, et al. Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Human Mutation. 39: 1581-1592. PMID 30311380 DOI: 10.1002/Humu.23636  0.338
2018 Ma X, Liu Y, Liu Y, Alexandrov LB, Edmonson MN, Gawad C, Zhou X, Li Y, Rusch MC, Easton J, Huether R, Gonzalez-Pena V, Wilkinson MR, Hermida LC, Davis S, et al. Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours. Nature. PMID 29489755 DOI: 10.1038/Nature25795  0.339
2017 Powis Z, Farwell Hagman KD, Mroske C, McWalter K, Cohen JS, Colombo R, Serretti A, Fatemi A, David KL, Reynolds J, Immken LD, Nagakura H, Cunniff C, Payne K, Barbaro-Dieber T, ... ... Huether R, et al. Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Clinical Genetics. PMID 28881385 DOI: 10.1111/Cge.13132  0.311
2017 von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, et al. DNM1 encephalopathy: A new disease of vesicle fission. Neurology. PMID 28667181 DOI: 10.1212/Wnl.0000000000004152  0.322
2016 Pesaran T, Karam R, Huether R, Li S, Farber-Katz S, Chamberlin A, Chong H, LaDuca H, Elliott A. Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes. International Journal of Breast Cancer. 2016: 2469523. PMID 27822389 DOI: 10.1155/2016/2469523  0.311
2016 Faber ZJ, Chen X, Gedman AL, Boggs K, Cheng J, Ma J, Radtke I, Chao JR, Walsh MP, Song G, Andersson AK, Dang J, Dong L, Liu Y, Huether R, et al. The genomic landscape of core-binding factor acute myeloid leukemias. Nature Genetics. PMID 27798625 DOI: 10.1038/Ng.3709  0.322
2016 Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clinical Genetics. PMID 27598823 DOI: 10.1111/Cge.12861  0.332
2016 Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, et al. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Annals of Neurology. PMID 27543892 DOI: 10.1002/Ana.24762  0.301
2016 Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, et al. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27513193 DOI: 10.1038/Gim.2016.95  0.336
2016 Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, ... ... Huether R, et al. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. European Journal of Human Genetics : Ejhg. PMID 27352968 DOI: 10.1038/Ejhg.2016.80  0.301
2016 Couch FJ, Akinhanmi M, Shimelis H, Hallberg EJ, Hu C, Hart S, Moore R, Meeks H, Huether R, Laduca H, Chao E, Goldgar D, Dolinsky JS. Risks of triple negative breast cancer associated with cancer predisposition gene mutations. Journal of Clinical Oncology. 34: 1513-1513. DOI: 10.1200/Jco.2016.34.15_Suppl.1513  0.305
2016 Couch FJ, Goldgar DE, Hart SN, Hallberg E, Moore R, Meeks H, Huether R, LaDuca H, Chao E, Dolinsky J. Abstract 2597: Breast and ovarian cancer risks associated with cancer predisposition gene mutations identified by multigene panel testing Cancer Research. 76: 2597-2597. DOI: 10.1158/1538-7445.Am2016-2597  0.304
2015 Hernandez F, Huether R, Carter L, Johnston T, Thompson J, Gossage JR, Chao E, Elliott AM. Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia. Human Genome Variation. 2: 15040. PMID 27081547 DOI: 10.1038/Hgv.2015.40  0.332
2015 Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. Bmc Medical Genetics. 16: 102. PMID 26542245 DOI: 10.1186/S12881-015-0240-8  0.313
2014 Huether R, Dong L, Chen X, Wu G, Parker M, Wei L, Ma J, Edmonson MN, Hedlund EK, Rusch MC, Shurtleff SA, Mulder HL, Boggs K, Vadordaria B, Cheng J, et al. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nature Communications. 5: 3630. PMID 24710217 DOI: 10.1038/Ncomms4630  0.344
2014 McEvoy J, Nagahawatte P, Finkelstein D, Richards-Yutz J, Valentine M, Ma J, Mullighan C, Song G, Chen X, Wilson M, Brennan R, Pounds S, Becksfort J, Huether R, Lu C, et al. RB1 gene inactivation by chromothripsis in human retinoblastoma. Oncotarget. 5: 438-50. PMID 24509483 DOI: 10.18632/Oncotarget.1686  0.361
2014 Walsh M, Wu G, Edmonson M, Gruber TA, Easton J, Yergeau D, Vadodaria B, Ma X, Chen X, McGee R, Odom C, Shurtleff SA, Parker M, Rusch M, Hedlund E, ... Huether R, et al. Incidence of Germline Mutations in Cancer-Predisposition Genes in Children with Hematologic Malignancies: a Report from the Pediatric Cancer Genome Project Blood. 124: 127-127. DOI: 10.1182/Blood.V124.21.127.127  0.342
2014 Diaz AK, Wu G, Paugh BS, Li Y, Zhu X, Rankin S, Qu C, Chen X, Zhang J, Easton J, Edmonson M, Lu C, Nagahawatte P, Hedlund E, Rusch M, ... ... Huether R, et al. Abstract PR03: The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma Cancer Research. 74. DOI: 10.1158/1538-7445.Pedcan-Pr03  0.342
2014 Chan HM, Jaffe JD, Wang Y, Zhang J, Huether R, Kryukov GV, Bhang HC, Taylor JE, Hu M, Englund NP, Yan F, Wang Z, McDonald ER, Wei L, Ma J, et al. Abstract 2930: Global chromatin profiling reveals NSD2 mutation in pediatric ALL Cancer Research. 74: 2930-2930. DOI: 10.1158/1538-7445.Am2014-2930  0.309
2014 Gilbertson R, Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, ... ... Huether R, et al. C11ORF95-RELA FUSIONS DRIVE ONCOGENIC NF-KB SIGNALING IN EPENDYMOMA Neuro-Oncology. 16: iii16-iii16. DOI: 10.1093/Neuonc/Nou206.57  0.322
2013 Jaffe JD, Wang Y, Chan HM, Zhang J, Huether R, Kryukov GV, Bhang HE, Taylor JE, Hu M, Englund NP, Yan F, Wang Z, Robert McDonald E, Wei L, Ma J, et al. Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia. Nature Genetics. 45: 1386-91. PMID 24076604 DOI: 10.1038/Ng.2777  0.307
2013 Zhang J, Wu G, Miller CP, Tatevossian RG, Dalton JD, Tang B, Orisme W, Punchihewa C, Parker M, Qaddoumi I, Boop FA, Lu C, Kandoth C, Ding L, Lee R, ... Huether R, et al. Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nature Genetics. 45: 602-12. PMID 23583981 DOI: 10.1038/Ng.2611  0.31
2012 Robinson G, Parker M, Kranenburg TA, Lu C, Chen X, Ding L, Phoenix TN, Hedlund E, Wei L, Zhu X, Chalhoub N, Baker SJ, Huether R, Kriwacki R, Curley N, et al. Novel mutations target distinct subgroups of medulloblastoma. Nature. 488: 43-8. PMID 22722829 DOI: 10.1038/Nature11213  0.348
2012 Duax WL, Huether R, Dziak D. Evolution of bacterial ribosomal protein L1. International Journal of Bioinformatics Research and Applications. 8: 99-111. PMID 22450273 DOI: 10.1504/Ijbra.2012.045979  0.542
2012 Wu G, Broniscer A, McEachron TA, Lu C, Paugh BS, Becksfort J, Qu C, Ding L, Huether R, Parker M, Zhang J, Gajjar A, Dyer MA, Mullighan CG, Gilbertson RJ, et al. Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. Nature Genetics. 44: 251-3. PMID 22286216 DOI: 10.1038/Ng.1102  0.326
2012 Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen X, Wang J, Rusch M, Lu C, Chen SC, Wei L, Collins-Underwood JR, Ma J, ... ... Huether R, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature. 481: 157-63. PMID 22237106 DOI: 10.1038/Nature10725  0.325
2012 Robinson GW, Parker M, Kranenburg T, Lu C, Chen X, Ding L, Phoenix T, Huether R, Thiruvenkatam R, Wang J, Easton J, Onar-Thomas A, Gajjar AJ, Ellison DW, Mardis E, et al. Use of whole genome sequencing to identify novel mutations in distinct subgroups of medulloblastoma. Journal of Clinical Oncology. 30: 9518-9518. DOI: 10.1200/Jco.2012.30.15_Suppl.9518  0.352
2011 Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen X, Wang J, Rusch M, Lu C, Chen S, Collins-Underwood R, Ma J, Roberts KG, ... ... Huether R, et al. Discovery of Novel Recurrent Mutations in Childhood Early T-Cell Precursor Acute Lymphoblastic Leukemia by Whole Genome Sequencing - a Report From the St Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project Blood. 118: 68-68. DOI: 10.1182/Blood.V118.21.68.68  0.369
2011 Duax WL, Huether R, Dziak D, McEachon C. Immutable glycine-based perfect alignment of protein families Acta Crystallographica Section a Foundations of Crystallography. 67: C133-C133. DOI: 10.1107/S0108767311096747  0.501
2011 Xu I, Chee M, Duax WL, Huether R, Dziak D. Perfect alignment of ribosomal protein S3 in creating an evolutionary tree Acta Crystallographica Section a Foundations of Crystallography. 67: C268-C268. DOI: 10.1107/S0108767311093317  0.492
2010 Huether R, Mao Q, Duax WL, Umland TC. The short-chain oxidoreductase Q9HYA2 from Pseudomonas aeruginosa PAO1 contains an atypical catalytic center. Protein Science : a Publication of the Protein Society. 19: 1097-103. PMID 20340135 DOI: 10.1002/Pro.384  0.521
2010 Huether R, Liu ZJ, Xu H, Wang BC, Pletnev VZ, Mao Q, Duax WL, Umland TC. Sequence fingerprint and structural analysis of the SCOR enzyme A3DFK9 from Clostridium thermocellum. Proteins. 78: 603-13. PMID 19774618 DOI: 10.1002/Prot.22584  0.551
2010 Duax WL, Huether R, Dziak D. Ribosomal protein structures and sequences define the prokaryotic tree of life Acta Crystallographica Section a Foundations of Crystallography. 66: s21-s21. DOI: 10.1107/S010876731009954X  0.52
2009 Duax WL, Huether R, Pletnev V, Umland TC. Divergent evolution of a Rossmann fold and identification of its oldest surviving ancestor. International Journal of Bioinformatics Research and Applications. 5: 280-94. PMID 19525201 DOI: 10.1504/IJBRA.2009.02642  0.485
2009 Duax WL, Huether R, Pletnev V, Umland TC, Weeks CM. Divergent evolution of a Rossmann fold and identification of its oldest surviving ancestor International Journal of Bioinformatics Research and Applications. 5: 280-294. DOI: 10.1504/Ijbra.2009.026420  0.321
2009 Duax WL, Huether R, Dziak D. Multiple open reading frames GARP content and a 32-letter genetic code Acta Crystallographica Section a Foundations of Crystallography. 65: s163-s163. DOI: 10.1107/S0108767309096652  0.477
2008 Duax W, Huether R, Connare S, Teysir J, Hogan D, Kirsh T. Universal tree of species evolution Acta Crystallographica Section a Foundations of Crystallography. 64: C229-C230. DOI: 10.1107/S0108767308092623  0.447
2007 Thomas JL, Huether R, Mack VL, Scaccia LA, Stoner RC, Duax WL. Structure/function of human type 1 3beta-hydroxysteroid dehydrogenase: An intrasubunit disulfide bond in the Rossmann-fold domain and a Cys residue in the active site are critical for substrate and coenzyme utilization. The Journal of Steroid Biochemistry and Molecular Biology. 107: 80-7. PMID 17624763 DOI: 10.1016/J.Jsbmb.2007.02.003  0.507
2007 Pletnev V, Huether R, Habegger L, Schultz W, Duax W. Rational proteomics of PKD1. I. Modeling the three dimensional structure and ligand specificity of the C_lectin binding domain of Polycystin-1. Journal of Molecular Modeling. 13: 891-6. PMID 17437137 DOI: 10.1007/S00894-007-0201-Z  0.518
2006 Huether R, Duax WL, Pletnev V, Schultz W. The three dimensional structure of polycystin 1, gene expression from alternate coding frames in PKD1 and autoimmunity Acta Crystallographica Section a Foundations of Crystallography. 62: s138-s138. DOI: 10.1107/S010876730609725X  0.494
2006 Duax WL, Huether R, Pletnev V, Weeks CM, Umland T, Mao Q, Gambino L. Folding, cofactor binding, catalysis, oligomerization and function of 13000 short chain oxidoreductase enzymes Acta Crystallographica Section a Foundations of Crystallography. 62: s169-s169. DOI: 10.1107/S0108767306096632  0.493
2005 Duax WL, Thomas J, Pletnev V, Addlagatta A, Huether R, Habegger L, Weeks CM. Determining structure and function of steroid dehydrogenase enzymes by sequence analysis, homology modeling, and rational mutational analysis. Annals of the New York Academy of Sciences. 1061: 135-48. PMID 16467263 DOI: 10.1196/Annals.1336.015  0.689
2005 Duax WL, Huether R, Pletnev VZ, Langs D, Addlagatta A, Connare S, Habegger L, Gill J. Rational genomics I: antisense open reading frames and codon bias in short-chain oxido reductase enzymes and the evolution of the genetic code. Proteins. 61: 900-6. PMID 16245321 DOI: 10.1002/Prot.20687  0.683
2005 Duax WL, Pletnev V, Glowka M, Huether R. Unusual ion coordination in membrane channels and CH hydrogen bonds in enzyme catalysis Acta Crystallographica Section a Foundations of Crystallography. 61: c28-c28. DOI: 10.1107/S0108767305098818  0.447
2005 Huether R, Duax WL, Habegger L, Pletnev V, Connare S. Sense/antisense open reading frames and the amino acid composition of ribosomal proteins Acta Crystallographica Section a Foundations of Crystallography. 61: c223-c223. DOI: 10.1107/S0108767305090495  0.488
2005 Cody V, Duax WL, Huether R. Covariance correlations from genome-wide homology sequence analysis of DHFR Acta Crystallographica Section a Foundations of Crystallography. 61: c484-c484. DOI: 10.1107/S0108767305079900  0.504
2004 Duax W, Habegger L, Huether R, Pletnev V. Rational proteomics: substrate specific fingerprints in SCOR enzymes Acta Crystallographica Section a Foundations of Crystallography. 60: s29-s29. DOI: 10.1107/S010876730409943X  0.49
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