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Items: 1 to 50 of 183

1.

Unified feature association networks through integration of transcriptomic and proteomic data.

McClure RS, Wendler JP, Adkins JN, Swanstrom J, Baric R, Kaiser BLD, Oxford KL, Waters KM, McDermott JE.

PLoS Comput Biol. 2019 Sep 17;15(9):e1007241. doi: 10.1371/journal.pcbi.1007241. eCollection 2019 Sep.

2.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. No abstract available.

3.

Time-dependent behavioral data from zebrafish reveals novel signatures of chemical toxicity using point of departure analysis.

Thomas DG, Shankaran H, Truong L, Tanguay RL, Waters KM.

Comput Toxicol. 2019 Feb;9:50-60. doi: 10.1016/j.comtox.2018.11.001. Epub 2018 Nov 10.

PMID:
31485548
4.

The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease.

McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG; Undiagnosed Diseases Network, Hooper SR, Shashi V.

Clin Genet. 2019 Aug 25. doi: 10.1111/cge.13635. [Epub ahead of print]

PMID:
31448412
5.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

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, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén 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; Undiagnosed Diseases Network, 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, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
6.

Genomics in medicine: a novel elective rotation for internal medicine residents.

Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network, Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M.

Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22.

PMID:
31439813
7.

Master transcription factors form interconnected circuitry and orchestrate transcriptional networks in oesophageal adenocarcinoma.

Chen L, Huang M, Plummer J, Pan J, Jiang YY, Yang Q, Silva TC, Gull N, Chen S, Ding LW, An O, Yang H, Cheng Y, Said JW, Doan N, Dinjens WN, Waters KM, Tuli R, Gayther SA, Klempner SJ, Berman BP, Meltzer SJ, Lin DC, Koeffler HP.

Gut. 2019 Aug 13. pii: gutjnl-2019-318325. doi: 10.1136/gutjnl-2019-318325. [Epub ahead of print]

PMID:
31409603
8.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674.

PMID:
31327508
9.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J; Undiagnosed Diseases Network (UDN), Moore SA, Hamid R; Members of the Undiagnosed Diseases Network.

Clin Imaging. 2019 Jun 21;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. [Epub ahead of print]

PMID:
31299614
10.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A.

Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.

PMID:
31264822
11.

Development of an environmental health tool linking chemical exposures, physical location and lung function.

Rohlman D, Dixon HM, Kincl L, Larkin A, Evoy R, Barton M, Phillips A, Peterson E, Scaffidi C, Herbstman JB, Waters KM, Anderson KA.

BMC Public Health. 2019 Jul 1;19(1):854. doi: 10.1186/s12889-019-7217-z.

12.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB.

Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.

PMID:
31160820
13.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV.

Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.

PMID:
31155284
14.

Coupling Genome-wide Transcriptomics and Developmental Toxicity Profiles in Zebrafish to Characterize Polycyclic Aromatic Hydrocarbon (PAH) Hazard.

Shankar P, Geier MC, Truong L, McClure RS, Pande P, Waters KM, Tanguay RL.

Int J Mol Sci. 2019 May 25;20(10). pii: E2570. doi: 10.3390/ijms20102570.

15.

Bioinformatics Resource Manager: a systems biology web tool for microRNA and omics data integration.

Brown J, Phillips AR, Lewis DA, Mans MA, Chang Y, Tanguay RL, Peterson ES, Waters KM, Tilton SC.

BMC Bioinformatics. 2019 May 17;20(1):255. doi: 10.1186/s12859-019-2805-6.

16.

IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.

Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network.

Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16.

17.

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG; Undiagnosed Diseases Network, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT.

J Genet Couns. 2019 Apr;28(2):213-228. doi: 10.1002/jgc4.1119. Erratum in: J Genet Couns. 2019 May 21;:.

PMID:
30964584
18.

Discovery of common chemical exposures across three continents using silicone wristbands.

Dixon HM, Armstrong G, Barton M, Bergmann AJ, Bondy M, Halbleib ML, Hamilton W, Haynes E, Herbstman J, Hoffman P, Jepson P, Kile ML, Kincl L, Laurienti PJ, North P, Paulik LB, Petrosino J, Points GL 3rd, Poutasse CM, Rohlman D, Scott RP, Smith B, Tidwell LG, Walker C, Waters KM, Anderson KA.

R Soc Open Sci. 2019 Feb 6;6(2):181836. doi: 10.1098/rsos.181836. eCollection 2019 Feb.

19.

Plasma lipidome reveals critical illness and recovery from human Ebola virus disease.

Kyle JE, Burnum-Johnson KE, Wendler JP, Eisfeld AJ, Halfmann PJ, Watanabe T, Sahr F, Smith RD, Kawaoka Y, Waters KM, Metz TO.

Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3919-3928. doi: 10.1073/pnas.1815356116. Epub 2019 Feb 11.

20.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

21.

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Grove ME, White S, Fisk DG, Rego S, Dagan-Rosenfeld O, Kohler JN, Reuter CM, Bonner D; Undiagnosed Diseases Network, Wheeler MT, Bernstein JA, Ormond KE, Hanson-Kahn AK.

J Genet Couns. 2019 Apr;28(2):466-476. doi: 10.1002/jgc4.1094. Epub 2019 Feb 1.

PMID:
30706981
22.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A.

Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25.

PMID:
30682224
23.

P-Mart: Interactive Analysis of Ion Abundance Global Proteomics Data.

Bramer LM, Stratton KG, White AM, Bleeker AH, Kobold MA, Waters KM, Metz TO, Rodland KD, Webb-Robertson BM.

J Proteome Res. 2019 Mar 1;18(3):1426-1432. doi: 10.1021/acs.jproteome.8b00840. Epub 2019 Feb 6.

PMID:
30667224
24.

pmartR: Quality Control and Statistics for Mass Spectrometry-Based Biological Data.

Stratton KG, Webb-Robertson BM, McCue LA, Stanfill B, Claborne D, Godinez I, Johansen T, Thompson AM, Burnum-Johnson KE, Waters KM, Bramer LM.

J Proteome Res. 2019 Mar 1;18(3):1418-1425. doi: 10.1021/acs.jproteome.8b00760. Epub 2019 Jan 28.

25.

Toxicokinetics of benzo[a]pyrene in humans: Extensive metabolism as determined by UPLC-accelerator mass spectrometry following oral micro-dosing.

Madeen E, Siddens LK, Uesugi S, McQuistan T, Corley RA, Smith J, Waters KM, Tilton SC, Anderson KA, Ognibene T, Turteltaub K, Williams DE.

Toxicol Appl Pharmacol. 2019 Feb 1;364:97-105. doi: 10.1016/j.taap.2018.12.010. Epub 2018 Dec 21.

PMID:
30582946
26.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network, Campeau PM.

Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.

27.

Polybrominated diphenyl ether (PBDE) neurotoxicity: a systematic review and meta-analysis of animal evidence.

Dorman DC, Chiu W, Hales BF, Hauser R, Johnson KJ, Mantus E, Martel S, Robinson KA, Rooney AA, Rudel R, Sathyanarayana S, Schantz SL, Waters KM.

J Toxicol Environ Health B Crit Rev. 2018;21(4):269-289. doi: 10.1080/10937404.2018.1514829. Epub 2018 Oct 23.

PMID:
30352012
28.

Evaluation of Peritumoral Fibrosis in Metastatic Colorectal Adenocarcinoma to the Liver Using Digital Image Analysis.

Waters KM, Cottrell TR, Besharati S, Zhu Q, Anders RA.

Am J Clin Pathol. 2019 Jan 7;151(2):226-230. doi: 10.1093/ajcp/aqy134.

PMID:
30339201
29.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network.

N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.

30.

Refined Criteria for Separating Low-grade Dysplasia and Nondysplastic Barrett Esophagus Reduce Equivocal Diagnoses and Improve Prediction of Patient Outcome: A 10-Year Review.

Waters KM, Salimian KJ, Voltaggio L, Montgomery EA.

Am J Surg Pathol. 2018 Dec;42(12):1723-1729. doi: 10.1097/PAS.0000000000001162.

PMID:
30234520
31.

Cancerization of the Pancreatic Ducts: Demonstration of a Common and Under-recognized Process Using Immunolabeling of Paired Duct Lesions and Invasive Pancreatic Ductal Adenocarcinoma for p53 and Smad4 Expression.

Hutchings D, Waters KM, Weiss MJ, Wolfgang CL, Makary MA, He J, Cameron JL, Wood LD, Hruban RH.

Am J Surg Pathol. 2018 Nov;42(11):1556-1561. doi: 10.1097/PAS.0000000000001148.

32.

Systematic reviews and meta-analyses of human and animal evidence of prenatal diethylhexyl phthalate exposure and changes in male anogenital distance.

Dorman DC, Chiu W, Hales BF, Hauser R, Johnson KJ, Mantus E, Martel S, Robinson KA, Rooney AA, Rudel R, Sathyanarayana S, Schantz SL, Waters KM.

J Toxicol Environ Health B Crit Rev. 2018;21(4):207-226. doi: 10.1080/10937404.2018.1505354. Epub 2018 Sep 10.

PMID:
30199328
33.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. No abstract available.

34.

Characteristics of undiagnosed diseases network applicants: implications for referring providers.

Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K; Undiagnosed Diseases Network, Wise AL, Shashi V.

BMC Health Serv Res. 2018 Aug 22;18(1):652. doi: 10.1186/s12913-018-3458-2.

35.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

36.

Combination Attenuation Offers Strategy for Live Attenuated Coronavirus Vaccines.

Menachery VD, Gralinski LE, Mitchell HD, Dinnon KH 3rd, Leist SR, Yount BL Jr, McAnarney ET, Graham RL, Waters KM, Baric RS.

J Virol. 2018 Aug 16;92(17). pii: e00710-18. doi: 10.1128/JVI.00710-18. Print 2018 Sep 1.

37.

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network, Shashi V, Pena LDM.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct.

38.

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network.

Genet Med. 2019 Jan;21(1):161-172. doi: 10.1038/s41436-018-0044-2. Epub 2018 Jun 15.

39.

Silicone wristbands compared with traditional polycyclic aromatic hydrocarbon exposure assessment methods.

Dixon HM, Scott RP, Holmes D, Calero L, Kincl LD, Waters KM, Camann DE, Calafat AM, Herbstman JB, Anderson KA.

Anal Bioanal Chem. 2018 May;410(13):3059-3071. doi: 10.1007/s00216-018-0992-z. Epub 2018 Apr 2.

40.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

41.

Transcriptomic and phenotypic profiling in developing zebrafish exposed to thyroid hormone receptor agonists.

Haggard DE, Noyes PD, Waters KM, Tanguay RL.

Reprod Toxicol. 2018 Apr;77:80-93. doi: 10.1016/j.reprotox.2018.02.006. Epub 2018 Feb 16.

42.

MERS-CoV and H5N1 influenza virus antagonize antigen presentation by altering the epigenetic landscape.

Menachery VD, Schäfer A, Burnum-Johnson KE, Mitchell HD, Eisfeld AJ, Walters KB, Nicora CD, Purvine SO, Casey CP, Monroe ME, Weitz KK, Stratton KG, Webb-Robertson BM, Gralinski LE, Metz TO, Smith RD, Waters KM, Sims AC, Kawaoka Y, Baric RS.

Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):E1012-E1021. doi: 10.1073/pnas.1706928115. Epub 2018 Jan 16.

43.

Is a Pathological Complete Response Following Neoadjuvant Chemoradiation Associated With Prolonged Survival in Patients With Pancreatic Cancer?

He J, Blair AB, Groot VP, Javed AA, Burkhart RA, Gemenetzis G, Hruban RH, Waters KM, Poling J, Zheng L, Laheru D, Herman JM, Makary MA, Weiss MJ, Cameron JL, Wolfgang CL.

Ann Surg. 2018 Jul;268(1):1-8. doi: 10.1097/SLA.0000000000002672.

44.

Multi-platform 'Omics Analysis of Human Ebola Virus Disease Pathogenesis.

Eisfeld AJ, Halfmann PJ, Wendler JP, Kyle JE, Burnum-Johnson KE, Peralta Z, Maemura T, Walters KB, Watanabe T, Fukuyama S, Yamashita M, Jacobs JM, Kim YM, Casey CP, Stratton KG, Webb-Robertson BM, Gritsenko MA, Monroe ME, Weitz KK, Shukla AK, Tian M, Neumann G, Reed JL, van Bakel H, Metz TO, Smith RD, Waters KM, N'jai A, Sahr F, Kawaoka Y.

Cell Host Microbe. 2017 Dec 13;22(6):817-829.e8. doi: 10.1016/j.chom.2017.10.011. Epub 2017 Nov 16.

45.

Middle East Respiratory Syndrome Coronavirus Nonstructural Protein 16 Is Necessary for Interferon Resistance and Viral Pathogenesis.

Menachery VD, Gralinski LE, Mitchell HD, Dinnon KH 3rd, Leist SR, Yount BL Jr, Graham RL, McAnarney ET, Stratton KG, Cockrell AS, Debbink K, Sims AC, Waters KM, Baric RS.

mSphere. 2017 Nov 15;2(6). pii: e00346-17. doi: 10.1128/mSphere.00346-17. eCollection 2017 Nov-Dec.

46.

Definition of Barrett Esophagus in the United States: Support for Retention of a Requirement for Goblet Cells.

Salimian KJ, Waters KM, Eze O, Pezhouh MK, Tarabishy Y, Shin EJ, Canto MI, Voltaggio L, Montgomery EA.

Am J Surg Pathol. 2018 Feb;42(2):264-268. doi: 10.1097/PAS.0000000000000971.

PMID:
29016405
47.

A Novel Absorbable Radiopaque Hydrogel Spacer to Separate the Head of the Pancreas and Duodenum in Radiation Therapy for Pancreatic Cancer.

Rao AD, Feng Z, Shin EJ, He J, Waters KM, Coquia S, DeJong R, Rosati LM, Su L, Li D, Jackson J, Clark S, Schultz J, Hutchings D, Kim SH, Hruban RH, DeWeese TL, Wong J, Narang A, Herman JM, Ding K.

Int J Radiat Oncol Biol Phys. 2017 Dec 1;99(5):1111-1120. doi: 10.1016/j.ijrobp.2017.08.006. Epub 2017 Aug 14.

48.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

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