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Items: 9

1.

Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.

Gupta A, Zimmermann MT, Wang H, Broski SM, Sigafoos AN, Macklin SK, Urrutia RA, Clark KJ, Atwal PS, Pignolo RJ, Klee EW.

Am J Med Genet A. 2019 Sep;179(9):1764-1777. doi: 10.1002/ajmg.a.61274. Epub 2019 Jun 26.

PMID:
31240838
2.

Novel zebrafish behavioral assay to identify modifiers of the rapid, nongenomic stress response.

Lee HB, Schwab TL, Sigafoos AN, Gauerke JL, Krug RG 2nd, Serres MR, Jacobs DC, Cotter RP, Das B, Petersen MO, Daby CL, Urban RM, Berry BC, Clark KJ.

Genes Brain Behav. 2019 Feb;18(2):e12549. doi: 10.1111/gbb.12549. Epub 2019 Jan 15.

3.

PCNT point mutations and familial intracranial aneurysms.

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, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA.

Neurology. 2018 Dec 4;91(23):e2170-e2181. doi: 10.1212/WNL.0000000000006614. Epub 2018 Nov 9. Erratum in: Neurology. 2019 Jul 30;93(5):231.

PMID:
30413633
4.

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
5.

The endocannabinoid gene faah2a modulates stress-associated behavior in zebrafish.

Krug RG 2nd, Lee HB, El Khoury LY, Sigafoos AN, Petersen MO, Clark KJ.

PLoS One. 2018 Jan 5;13(1):e0190897. doi: 10.1371/journal.pone.0190897. eCollection 2018.

6.

Molecular Modeling and Functional Analysis of Exome Sequencing-Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma.

Egan JB, Marks DL, Hogenson TL, Vrabel AM, Sigafoos AN, Tolosa EJ, Carr RM, Safgren SL, Hesles EE, Almada LL, Romecin-Duran PA, Iguchi E, Ala'Aldeen A, Kocher JA, Oliver GR, Prodduturi N, Mead DW, Hossain A, Huneke NE, Tagtow CM, Ailawadhi S, Ansell SM, Banck MS, Bryce AH, Carballido EM, Chanan-Khan AA, Curtis KK, Resnik E, Gawryletz CD, Go RS, Halfdanarson TR, Ho TH, Joseph RW, Kapoor P, Mansfield AS, Meurice N, Nageswara Rao AA, Nowakowski GS, Pardanani A, Parikh SA, Cheville JC, Feldman AL, Ramanathan RK, Robinson SI, Tibes R, Finnes HD, McCormick JB, McWilliams RR, Jatoi A, Patnaik MM, Silva AC, Wieben ED, McAllister TM, Rumilla KM, Kerr SE, Lazaridis KN, Farrugia G, Stewart AK, Clark KJ, Kennedy EJ, Klee EW, Borad MJ, Fernandez-Zapico ME.

JCO Precis Oncol. 2017;2017. doi: 10.1200/PO.17.00018. Epub 2017 Aug 1.

7.

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.

8.

Genome Engineering with TALE and CRISPR Systems in Neuroscience.

Lee HB, Sundberg BN, Sigafoos AN, Clark KJ.

Front Genet. 2016 Apr 6;7:47. doi: 10.3389/fgene.2016.00047. eCollection 2016. Review.

9.

Effect of food restriction and leptin supplementation on fetal programming in mice.

Pennington KA, Harper JL, Sigafoos AN, Beffa LM, Carleton SM, Phillips CL, Schulz LC.

Endocrinology. 2012 Sep;153(9):4556-67. doi: 10.1210/en.2012-1119. Epub 2012 Jul 9.

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