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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. Boczek NJ, et al. Among authors: urrutia r. Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep. Clin Case Rep. 2016. PMID: 27648269 Free PMC article.
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. Blackburn PR, et al. Among authors: urrutia r. J Biol Chem. 2017 Mar 3;292(9):3866-3876. doi: 10.1074/jbc.M116.770545. Epub 2017 Jan 5. J Biol Chem. 2017. PMID: 28057753 Free PMC article.
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. Zimmermann MT, et al. Among authors: urrutia r. PLoS One. 2017 Feb 9;12(2):e0170822. doi: 10.1371/journal.pone.0170822. eCollection 2017. PLoS One. 2017. PMID: 28182693 Free PMC article.
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. Blackburn PR, et al. Among authors: urrutia ra. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001743. doi: 10.1101/mcs.a001743. Cold Spring Harb Mol Case Stud. 2017. PMID: 28487885 Free PMC article.
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. Cousin MA, et al. Among authors: urrutia ra. Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4):a001727. doi: 10.1101/mcs.a001727. Print 2017 Jul. Cold Spring Harb Mol Case Stud. 2017. PMID: 28679693 Free PMC article.
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. Kaiwar C, et al. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28963436 Free PMC article. Review.
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 RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN. Polonis K, et al. Among authors: urrutia ra. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002899. doi: 10.1101/mcs.a002899. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 29802153 Free PMC article.
364 results