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Items: 1 to 20 of 73

1.

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 Mar 21. doi: 10.1002/ajmg.a.38113. [Epub ahead of print]

PMID:
28322501
2.

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 Mar 13. doi: 10.1038/ng.3808. [Epub ahead of print]

PMID:
28288114
3.

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.

4.

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.

5.

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.

PMID:
28145427
6.

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.

7.

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. No abstract available.

PMID:
27931139
8.

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.

PMID:
27929804
9.

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

10.

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. 2016 Nov 11. doi: 10.1002/mus.25471. [Epub ahead of print] No abstract available.

PMID:
27862037
11.

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.

12.

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.

PMID:
27704300
13.

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.

14.

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.

PMID:
27445342
15.

"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.

16.

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.

17.

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.

18.

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):438-45. doi: 10.1016/j.jmoldx.2016.01.003.

PMID:
26947514
19.

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
20.

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

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