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Items: 1 to 50 of 92

1.

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Polonis K, Blackburn PR, Urrutia R, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN.

Cold Spring Harb Mol Case Stud. 2018 May 25. pii: mcs.a002899. doi: 10.1101/mcs.a002899. [Epub ahead of print]

2.

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.

Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW.

J Clin Immunol. 2018 Apr;38(3):307-319. doi: 10.1007/s10875-018-0499-6. Epub 2018 Apr 18.

PMID:
29671115
3.

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

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, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS.

Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29.

PMID:
29606302
4.

Arterial tortuosity syndrome: 40 new families and literature review.

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, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-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 TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print]

PMID:
29323665
5.

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.

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.

J Mol Diagn. 2018 Jan;20(1):4-27. doi: 10.1016/j.jmoldx.2017.11.003. Epub 2017 Nov 21. Review.

PMID:
29154853
6.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

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, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G.

Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184.

PMID:
29050392
7.

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.

Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B.

JIMD Rep. 2017 Oct 14. doi: 10.1007/8904_2017_59. [Epub ahead of print]

PMID:
29030856
8.

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Review.

9.

Maple syrup urine disease: mechanisms and management.

Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS.

Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017. Review.

10.

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.

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.

Mol Genet Metab Rep. 2017 Aug 11;13:46-51. doi: 10.1016/j.ymgmr.2017.08.001. eCollection 2017 Dec.

11.

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

Kaiwar C, Macklin SK, Gass JM, Jackson J, Klee EW, Hines SL, Stauffer JA, Atwal PS.

Hered Cancer Clin Pract. 2017 Jul 21;15:10. doi: 10.1186/s13053-017-0070-0. eCollection 2017.

12.

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.

Cousin MA, Zimmermann MT, Mathison AJ, Blackburn PR, Boczek NJ, Oliver GR, Lomberk GA, Urrutia RA, Deyle DR, Klee EW.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). pii: a001727. doi: 10.1101/mcs.a001727. Print 2017 Jul.

13.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Blackburn PR, Selcen D, Gass JM, Jackson JL, Macklin S, Cousin MA, Boczek NJ, Klee EW, Dimberg EL, Kennelly KD, Atwal PS.

Mol Genet Genomic Med. 2017 Mar 30;5(3):295-302. doi: 10.1002/mgg3.280. eCollection 2017 May.

14.

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.

Cousin MA, Matey ET, Blackburn PR, Boczek NJ, McAllister TM, Kruisselbrink TM, Babovic-Vuksanovic D, Lazaridis KN, Klee EW.

Mol Genet Genomic Med. 2017 Mar 19;5(3):269-279. doi: 10.1002/mgg3.283. eCollection 2017 May.

15.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN.

Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001743. doi: 10.1101/mcs.a001743.

16.

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.

Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P.

Case Rep Genet. 2017;2017:9184265. doi: 10.1155/2017/9184265. Epub 2017 Apr 12.

17.

Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery.

Bryce AH, Egan JB, Borad MJ, Stewart AK, Nowakowski GS, Chanan-Khan A, Patnaik MM, Ansell SM, Banck MS, Robinson SI, Mansfield AS, Klee EW, Oliver GR, McCormick JB, Huneke NE, Tagtow CM, Jenkins RB, Rumilla KM, Kerr SE, Kocher JA, Beck SA, Fernandez-Zapico ME, Farrugia G, Lazaridis KN, McWilliams RR.

Oncotarget. 2017 Apr 18;8(16):27145-27154. doi: 10.18632/oncotarget.16057.

18.

Comparative analysis of de novo assemblers for variation discovery in personal genomes.

Tian S, Yan H, Klee EW, Kalmbach M, Slager SL.

Brief Bioinform. 2017 Apr 11. doi: 10.1093/bib/bbx037. [Epub ahead of print]

PMID:
28407084
19.

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.

Blackburn PR, Williams M, Cousin MA, Boczek NJ, Beek GJ, Lomberk GA, Urrutia RA, Babovic-Vuksanovic D, Klee EW.

Mol Genet Genomic Med. 2017 Jan 26;5(2):141-146. doi: 10.1002/mgg3.268. eCollection 2017 Mar.

20.

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC.

Am J Med Genet A. 2017 May;173(5):1328-1333. doi: 10.1002/ajmg.a.38113. Epub 2017 Mar 21.

PMID:
28322501
21.

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

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, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.

Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.

22.

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.

Zimmermann MT, Urrutia R, Oliver GR, Blackburn PR, Cousin MA, Bozeck NJ, Klee EW.

PLoS One. 2017 Feb 9;12(2):e0170822. doi: 10.1371/journal.pone.0170822. eCollection 2017.

23.

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.

Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS.

Case Rep Genet. 2017;2017:7263780. doi: 10.1155/2017/7263780. Epub 2017 Jan 9.

24.

Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

Safarova MS, Klee EW, Baudhuin LM, Winkler EM, Kluge ML, Bielinski SJ, Olson JE, Kullo IJ.

Eur J Hum Genet. 2017 Apr;25(4):410-415. doi: 10.1038/ejhg.2016.193. Epub 2017 Feb 1.

25.

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.

Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW.

J Biol Chem. 2017 Mar 3;292(9):3866-3876. doi: 10.1074/jbc.M116.770545. Epub 2017 Jan 5.

26.

Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.

Perez Botero J, Chen D, Cousin MA, Majerus JA, Coon LM, Kruisselbrink TM, Klee EW, Lazaridis KN, Pruthi RK, Patnaik MM.

Leuk Lymphoma. 2017 Aug;58(8):1963-1967. doi: 10.1080/10428194.2016.1265118. Epub 2016 Dec 8. No abstract available.

PMID:
27931139
27.

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.

Clift K, Guthrie K, Klee EW, Boczek N, Cousin M, Blackburn P, Atwal P.

Prion. 2016 Nov;10(6):502-506.

28.

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS.

BMC Med Genet. 2016 Dec 5;17(1):93.

29.

Early-onset limb-girdle muscular dystrophy-2L in a female athlete.

Blackburn PR, Selcen D, Jackson JL, Guthrie KJ, Cousin MA, Boczek NJ, Clift KE, Klee EW, Dimberg EL, Atwal PS.

Muscle Nerve. 2017 May;55(5):E19-E21. doi: 10.1002/mus.25471. Epub 2017 Feb 23. No abstract available.

PMID:
27862037
30.

Impact of RNA degradation on fusion detection by RNA-seq.

Davila JI, Fadra NM, Wang X, McDonald AM, Nair AA, Crusan BR, Wu X, Blommel JH, Jen J, Rumilla KM, Jenkins RB, Aypar U, Klee EW, Kipp BR, Halling KC.

BMC Genomics. 2016 Oct 20;17(1):814.

31.

Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants.

Gerlai R, Poshusta TL, Rampersad M, Fernandes Y, Greenwood TM, Cousin MA, Klee EW, Clark KJ.

Behav Genet. 2017 Jan;47(1):125-139. doi: 10.1007/s10519-016-9818-y. Epub 2016 Oct 5.

PMID:
27704300
32.

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW.

Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep.

33.

Pilot study of small bowel mucosal gene expression in patients with irritable bowel syndrome with diarrhea.

Camilleri M, Carlson P, Valentin N, Acosta A, O'Neill J, Eckert D, Dyer R, Na J, Klee EW, Murray JA.

Am J Physiol Gastrointest Liver Physiol. 2016 Sep 1;311(3):G365-76. doi: 10.1152/ajpgi.00037.2016. Epub 2016 Jul 21.

34.

"The molecule's the thing:" the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results.

Oliver GR, Zimmermann MT, Klee EW, Urrutia RA.

Version 3. F1000Res. 2016 Apr 27 [revised 2016 Jan 1];5:766. doi: 10.12688/f1000research.8600.3. eCollection 2016.

35.

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.

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, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC.

Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8.

36.

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).

Swaika A, Boczek NJ, Sood N, Guthrie K, Klee EW, Agrawal A, Dimberg EL, Ailawadhi S.

Case Rep Genet. 2016;2016:9280812. doi: 10.1155/2016/9280812. Epub 2016 Apr 19.

37.

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.

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, Bielinski SJ, Caraballo PJ, Weinshilboum RM, Black JL 3rd.

J Mol Diagn. 2016 May;18(3):438-445. doi: 10.1016/j.jmoldx.2016.01.003. Epub 2016 Mar 3.

38.

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G; Individualized Medicine Clinic Members.

Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018.

PMID:
26944241
39.

A Critical Review of Repurposing Apomorphine for Smoking Cessation.

Morales-Rosado JA, Cousin MA, Ebbert JO, Klee EW.

Assay Drug Dev Technol. 2015 Dec;13(10):612-22. doi: 10.1089/adt.2015.680. Review.

PMID:
26690764
40.

"Big Data" in Laboratory Medicine.

Tolan NV, Parnas ML, Baudhuin LM, Cervinski MA, Chan AS, Holmes DT, Horowitz G, Klee EW, Kumar RB, Master SR.

Clin Chem. 2015 Dec;61(12):1433-40. doi: 10.1373/clinchem.2015.248591. Epub 2015 Oct 20. No abstract available.

41.

Endoscopic ultrasound fine-needle aspiration cytology mutation profiling using targeted next-generation sequencing: personalized care for rectal cancer.

Gleeson FC, Kipp BR, Voss JS, Campion MB, Minot DM, Tu ZJ, Klee EW, Sciallis AP, Graham RP, Lazaridis KN, Henry MR, Levy MJ.

Am J Clin Pathol. 2015 Jun;143(6):879-88. doi: 10.1309/AJCPU3J7FGAYQBRL.

PMID:
25972331
42.

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.

Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ.

J Mol Diagn. 2015 Jul;17(4):456-61. doi: 10.1016/j.jmoldx.2015.03.004. Epub 2015 May 8.

PMID:
25960255
43.

Frequency of mitogen-activated protein kinase and phosphoinositide 3-kinase signaling pathway pathogenic alterations in EUS-FNA sampled malignant lymph nodes in rectal cancer with theranostic potential.

Gleeson FC, Kipp BR, Voss JS, Campion MB, Minot DM, Tu ZJ, Klee EW, Graham RP, Lazaridis KN, Henry MR, Levy MJ.

Gastrointest Endosc. 2015 Sep;82(3):550-6.e1. doi: 10.1016/j.gie.2015.01.050. Epub 2015 Apr 14.

PMID:
25887718
44.

Somatic STK11 and concomitant STK11/KRAS mutational frequency in stage IV lung adenocarcinoma adrenal metastases.

Gleeson FC, Kipp BR, Levy MJ, Voss JS, Campion MB, Minot DM, Tu ZJ, Klee EW, Lazaridis KN, Kerr SE.

J Thorac Oncol. 2015 Mar;10(3):531-4. doi: 10.1097/JTO.0000000000000391.

45.

Bioinformatics for clinical next generation sequencing.

Oliver GR, Hart SN, Klee EW.

Clin Chem. 2015 Jan;61(1):124-35. doi: 10.1373/clinchem.2014.224360. Epub 2014 Dec 1. Review.

46.

Serum concentrations of prostate-specific antigen measured using immune extraction, trypsin digestion, and tandem mass spectrometry quantification of LSEPAELTDAVK peptide.

Klee EW, Bondar OP, Goodmanson MK, Trushin SA, Bergstralh EJ, Singh RJ, Anderson NL, Klee GG.

Arch Pathol Lab Med. 2014 Oct;138(10):1381-6. doi: 10.5858/arpa.2013-0462-OA.

PMID:
25268201
47.

Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness.

Shameer K, Klee EW, Dalenberg AK, Kullo IJ.

Circ Cardiovasc Genet. 2014 Oct;7(5):607-14. doi: 10.1161/CIRCGENETICS.113.000233. Epub 2014 Aug 13.

48.

Lung cancer adrenal gland metastasis: Optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing.

Gleeson FC, Kipp BR, Levy MJ, Voss JS, Campion MB, Minot DM, Tu ZJ, Klee EW, Lazaridis KN, Kerr SE.

Cancer Cytopathol. 2014 Nov;122(11):822-32. doi: 10.1002/cncy.21464. Epub 2014 Jul 15.

49.

Kinase genotype analysis of gastric gastrointestinal stromal tumor cytology samples using targeted next-generation sequencing.

Gleeson FC, Kipp BR, Kerr SE, Voss JS, Graham RP, Campion MB, Minot DM, Tu ZJ, Klee EW, Lazaridis KN, Henry MR, Levy MJ.

Clin Gastroenterol Hepatol. 2015 Jan;13(1):202-6. doi: 10.1016/j.cgh.2014.06.024. Epub 2014 Jul 3.

PMID:
24997326
50.

RNA sequencing shows transcriptomic changes in rectosigmoid mucosa in patients with irritable bowel syndrome-diarrhea: a pilot case-control study.

Camilleri M, Carlson P, Acosta A, Busciglio I, Nair AA, Gibbons SJ, Farrugia G, Klee EW.

Am J Physiol Gastrointest Liver Physiol. 2014 Jun 15;306(12):G1089-98. doi: 10.1152/ajpgi.00068.2014. Epub 2014 Apr 24.

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