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Items: 42


RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.

Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW.

Mol Genet Genomic Med. 2019 Jan 10:e00560. doi: 10.1002/mgg3.560. [Epub ahead of print]


Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.

Blackburn PR, Chacon-Camacho OF, Ortiz-González XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC.

Am J Med Genet A. 2018 Dec;176(12):2710-2719. doi: 10.1002/ajmg.a.40644. Epub 2018 Nov 18.


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.


Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy.

Blessing MM, Blackburn PR, Balcom JR, Krishnan C, Harrod VL, Zimmermann MT, Barr Fritcher EG, Zysk CD, Jackson RA, Nair AA, Jenkins RB, Halling KC, Kipp BR, Ida CM.

Acta Neuropathol Commun. 2018 Nov 5;6(1):118. doi: 10.1186/s40478-018-0622-1. No abstract available.


tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish.

Ignatius MS, Hayes MN, Moore FE, Tang Q, Garcia SP, Blackburn PR, Baxi K, Wang L, Jin A, Ramakrishnan A, Reeder S, Chen Y, Nielsen GP, Chen EY, Hasserjian RP, Tirode F, Ekker SC, Langenau DM.

Elife. 2018 Sep 7;7. pii: e37202. doi: 10.7554/eLife.37202.


Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR.

Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235. doi: 10.1002/mgg3.454. Epub 2018 Sep 5.


Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.

Boczek NJ, Hopp K, Benoit L, Kraft D, Cousin MA, Blackburn PR, Madsen CD, Oliver GR, Nair AA, Na J, Bianchi DW, Beek G, Harris PC, Pichurin P, Klee EW.

Eur J Hum Genet. 2018 Dec;26(12):1797-1809. doi: 10.1038/s41431-018-0222-3. Epub 2018 Aug 10.


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.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002899. doi: 10.1101/mcs.a002899. Print 2018 Aug.


Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

Harris AL, Blackburn PR, Richter JE Jr, Gass JM, Caulfield TR, Mohammad AN, Atwal PS.

Case Rep Genet. 2018 Feb 22;2018:6968395. doi: 10.1155/2018/6968395. eCollection 2018.


Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

Konno T, Blackburn PR, Rozen TD, van Gerpen JA, Ross OA, Atwal PS, Wszolek ZK.

Neurol Neurochir Pol. 2018 May - Jun;52(3):386-389. doi: 10.1016/j.pjnns.2018.03.007. Epub 2018 Apr 11.


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.


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.


Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

DeMeo NN, Burgess JD, Blackburn PR, Gass JM, Richter J, Atwal HK, van Gerpen JA, Atwal PS.

Clin Case Rep. 2017 Nov 20;6(1):8-13. doi: 10.1002/ccr3.1265. eCollection 2018 Jan.


A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

Lara-Velazquez M, Perdomo-Pantoja A, Blackburn PR, Gass JM, Caulfield TR, Atwal PS.

Mol Genet Genomic Med. 2017 Nov;5(6):781-787. doi: 10.1002/mgg3.322. Epub 2017 Jul 20.


Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.

Gass JM, Cheema A, Jackson J, Blackburn PR, Van Gerpen J, Atwal PS.

Neurologist. 2017 Nov;22(6):247-248. doi: 10.1097/NRL.0000000000000153.


Expanded phenotype in a patient with spastic paraplegia 7.

Gass J, Blackburn PR, Jackson J, Macklin S, van Gerpen J, Atwal PS.

Clin Case Rep. 2017 Aug 24;5(10):1620-1622. doi: 10.1002/ccr3.1109. eCollection 2017 Oct.


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.


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.


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.


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. Erratum in: Mol Genet Genomic Med. 2018 May;6(3):469.


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.


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.


The clinical heterogeneity of late-onset MELAS.

Atwal HK, Gass J, Blackburn PR, Atwal PS.

Mol Genet Metab Rep. 2017 Apr 15;11:30. doi: 10.1016/j.ymgmr.2017.04.003. eCollection 2017 Jun. No abstract available.


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.


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.


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.


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.


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.


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.


Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS).

Sunde K, Blackburn PR, Cheema A, Gass J, Jackson J, Macklin S, Atwal PS.

Mol Genet Metab Rep. 2016 Nov 18;9:94-97. eCollection 2016 Dec.


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.


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.


TALEN-Mediated Mutagenesis and Genome Editing.

Ma AC, Chen Y, Blackburn PR, Ekker SC.

Methods Mol Biol. 2016;1451:17-30. doi: 10.1007/978-1-4939-3771-4_2.


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.


Holocarboxylase synthetase deficiency pre and post newborn screening.

Donti TR, Blackburn PR, Atwal PS.

Mol Genet Metab Rep. 2016 Apr 6;7:40-4. doi: 10.1016/j.ymgmr.2016.03.007. eCollection 2016 Jun.


Activation of P-TEFb by Androgen Receptor-Regulated Enhancer RNAs in Castration-Resistant Prostate Cancer.

Zhao Y, Wang L, Ren S, Wang L, Blackburn PR, McNulty MS, Gao X, Qiao M, Vessella RL, Kohli M, Zhang J, Karnes RJ, Tindall DJ, Kim Y, MacLeod R, Ekker SC, Kang T, Sun Y, Huang H.

Cell Rep. 2016 Apr 19;15(3):599-610. doi: 10.1016/j.celrep.2016.03.038. Epub 2016 Apr 7.


FusX: A Rapid One-Step Transcription Activator-Like Effector Assembly System for Genome Science.

Ma AC, McNulty MS, Poshusta TL, Campbell JM, Martínez-Gálvez G, Argue DP, Lee HB, Urban MD, Bullard CE, Blackburn PR, Man TK, Clark KJ, Ekker SC.

Hum Gene Ther. 2016 Jun;27(6):451-63. doi: 10.1089/hum.2015.172. Epub 2016 Mar 15.


TALEN-mediated genetic tailoring as a tool to analyze the function of acquired mutations in multiple myeloma cells.

Wu X, Blackburn PR, Tschumper RC, Ekker SC, Jelinek DF.

Blood Cancer J. 2014 May 9;4:e210. doi: 10.1038/bcj.2014.32.


The CRISPR system--keeping zebrafish gene targeting fresh.

Blackburn PR, Campbell JM, Clark KJ, Ekker SC.

Zebrafish. 2013 Mar;10(1):116-8. doi: 10.1089/zeb.2013.9999. Epub 2013 Mar 28. Review.


Clonal competition with alternating dominance in multiple myeloma.

Keats JJ, Chesi M, Egan JB, Garbitt VM, Palmer SE, Braggio E, Van Wier S, Blackburn PR, Baker AS, Dispenzieri A, Kumar S, Rajkumar SV, Carpten JD, Barrett M, Fonseca R, Stewart AK, Bergsagel PL.

Blood. 2012 Aug 2;120(5):1067-76. doi: 10.1182/blood-2012-01-405985. Epub 2012 Apr 12.


No evidence of XMRV in prostate cancer cohorts in the Midwestern United States.

Sakuma T, Hué S, Squillace KA, Tonne JM, Blackburn PR, Ohmine S, Thatava T, Towers GJ, Ikeda Y.

Retrovirology. 2011 Mar 29;8:23. doi: 10.1186/1742-4690-8-23.


Monitoring clinical trials: conditional or predictive power?

Spiegelhalter DJ, Freedman LS, Blackburn PR.

Control Clin Trials. 1986 Mar;7(1):8-17.


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