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Items: 1 to 50 of 151

1.

A case report of genetic prion disease with two different PRNP variants.

Piazza M, Prior TW, Khalsa PS, Appleby B.

Mol Genet Genomic Med. 2020 Jan 17:e1134. doi: 10.1002/mgg3.1134. [Epub ahead of print]

2.

Impact of NPM1/FLT3-ITD genotypes defined by the 2017 European LeukemiaNet in patients with acute myeloid leukemia.

Döhner K, Thiede C, Jahn N, Panina E, Gambietz A, Larson RA, Prior TW, Marcucci G, Jones D, Krauter J, Heuser M, Voso MT, Ottone T, Nomdedeu JF, Mandrekar SJ, Klisovic RB, Wei AH, Sierra J, Sanz MA, Brandwein JM, de Witte T, Jansen JH, Niederwieser D, Appelbaum FR, Medeiros BC, Tallman MS, Schlenk RF, Ganser A, Serve H, Ehninger G, Amadori S, Gathmann I, Benner A, Pallaud C, Stone RM, Döhner H, Bloomfield CD.

Blood. 2020 Jan 30;135(5):371-380. doi: 10.1182/blood.2019002697.

PMID:
31826241
3.

Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy.

Elsheikh B, King W, Peng J, Swoboda KJ, Reyna SP, LaSalle B, Prior TW, Arnold WD, Kissel JT, Kolb SJ.

Muscle Nerve. 2020 Feb;61(2):187-191. doi: 10.1002/mus.26756. Epub 2019 Dec 11.

PMID:
31725909
4.

Spinal Muscular Atrophy.

Prior TW, Leach ME, Finanger E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2000 Feb 24 [updated 2019 Nov 14].

5.

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.

Ramos DM, d'Ydewalle C, Gabbeta V, Dakka A, Klein SK, Norris DA, Matson J, Taylor SJ, Zaworski PG, Prior TW, Snyder PJ, Valdivia D, Hatem CL, Waters I, Gupte N, Swoboda KJ, Rigo F, Bennett CF, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ.

J Clin Invest. 2019 Nov 1;129(11):4817-4831. doi: 10.1172/JCI124120.

6.

Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy.

Lowes LP, Alfano LN, Arnold WD, Shell R, Prior TW, McColly M, Lehman KJ, Church K, Sproule DM, Nagendran S, Menier M, Feltner DE, Wells C, Kissel JT, Al-Zaidy S, Mendell J.

Pediatr Neurol. 2019 Sep;98:39-45. doi: 10.1016/j.pediatrneurol.2019.05.005. Epub 2019 May 13.

7.

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM.

Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20.

PMID:
30788592
8.

Natural history of infantile-onset spinal muscular atrophy.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators.

Ann Neurol. 2017 Dec;82(6):883-891. doi: 10.1002/ana.25101. Epub 2017 Dec 8.

9.

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.

Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK.

N Engl J Med. 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198.

10.

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network.

Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18.

PMID:
28833236
11.

Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation.

Stone RM, Mandrekar SJ, Sanford BL, Laumann K, Geyer S, Bloomfield CD, Thiede C, Prior TW, Döhner K, Marcucci G, Lo-Coco F, Klisovic RB, Wei A, Sierra J, Sanz MA, Brandwein JM, de Witte T, Niederwieser D, Appelbaum FR, Medeiros BC, Tallman MS, Krauter J, Schlenk RF, Ganser A, Serve H, Ehninger G, Amadori S, Larson RA, Döhner H.

N Engl J Med. 2017 Aug 3;377(5):454-464. doi: 10.1056/NEJMoa1614359. Epub 2017 Jun 23.

12.

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.

Wu X, Wang SH, Sun J, Krainer AR, Hua Y, Prior TW.

Hum Mol Genet. 2017 Jul 15;26(14):2768-2780. doi: 10.1093/hmg/ddx166.

13.

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Iyadurai S, Arnold WD, Kissel JT, Ruhno C, Mcgovern VL, Snyder PJ, Prior TW, Roggenbuck J, Burghes AH, Kolb SJ.

Muscle Nerve. 2017 Aug;56(2):341-345. doi: 10.1002/mus.25491. Epub 2017 Feb 20.

14.

Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes.

Mehta N, Chacko P, Jin J, Tran T, Prior TW, He X, Agarwal G, Raman SV.

Tex Heart Inst J. 2016 Aug 1;43(4):305-10. doi: 10.14503/THIJ-14-4198. eCollection 2016 Aug.

15.

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials.

Zaworski P, von Herrmann KM, Taylor S, Sunshine SS, McCarthy K, Risher N, Newcomb T, Weetall M, Prior TW, Swoboda KJ, Chen KS, Paushkin S.

PLoS One. 2016 Mar 8;11(3):e0150640. doi: 10.1371/journal.pone.0150640. eCollection 2016.

16.

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283. eCollection 2016 Feb.

17.

Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.

Prior TW, Nagan N.

Curr Protoc Hum Genet. 2016 Jan 1;88:9.27.1-9.27.13. doi: 10.1002/0471142905.hg0927s88.

PMID:
26724723
18.

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults.

Renusch SR, Harshman S, Pi H, Workman E, Wehr A, Li X, Prior TW, Elsheikh BH, Swoboda KJ, Simard LR, Kissel JT, Battle D, Parthun MR, Freitas MA, Kolb SJ.

J Neuromuscul Dis. 2015 Jun 4;2(2):119-130.

19.

Duchenne muscular dystrophy diagnostics: it only gets better but some of the same challenges remain.

Prior TW.

Clin Chem. 2015 Jun;61(6):792-3. doi: 10.1373/clinchem.2015.240697. Epub 2015 Apr 7. No abstract available.

PMID:
25851048
20.

Next-generation carrier screening: are we ready?

Prior TW.

Genome Med. 2014 Aug 26;6(8):62. doi: 10.1186/s13073-014-0062-x. eCollection 2014.

21.

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.

Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ.

Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.

22.

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW.

Am J Med Genet A. 2014 Jan;164A(1):243-50. doi: 10.1002/ajmg.a.36236. Epub 2013 Oct 29.

PMID:
24352917
23.

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW.

Am J Med Genet A. 2013 Sep;161A(9):2294-9. doi: 10.1002/ajmg.a.36034. Epub 2013 Jul 29.

PMID:
23897859
24.

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.

Kissel JT, Elsheikh B, King WM, Freimer M, Scott CB, Kolb SJ, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators Network.

Muscle Nerve. 2014 Feb;49(2):187-92.

25.

PTEN mosaicism with features of Cowden syndrome.

Gammon A, Jasperson K, Pilarski R, Prior T, Kuwada S.

Clin Genet. 2013 Dec;84(6):593-5. doi: 10.1111/cge.12078. Epub 2013 Jan 20.

PMID:
23240978
26.

inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations.

Schwind S, Edwards CG, Nicolet D, Mrózek K, Maharry K, Wu YZ, Paschka P, Eisfeld AK, Hoellerbauer P, Becker H, Metzeler KH, Curfman J, Kohlschmidt J, Prior TW, Kolitz JE, Blum W, Pettenati MJ, Dal Cin P, Carroll AJ, Caligiuri MA, Larson RA, Volinia S, Marcucci G, Bloomfield CD; Alliance for Clinical Trials in Oncology.

Blood. 2013 Jan 10;121(2):385-91. doi: 10.1182/blood-2012-07-442772. Epub 2012 Nov 16.

27.

Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

Dobrowolski SF, Pham HT, Downes FP, Prior TW, Naylor EW, Swoboda KJ.

Clin Chem. 2012 Jun;58(6):1033-9. doi: 10.1373/clinchem.2012.183038. Epub 2012 Apr 9.

28.

Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory.

Nahhas FA, Monroe TJ, Prior TW, Botma PI, Fang J, Snyder PJ, Talbott SL, Feldman GL.

Genet Test Mol Biomarkers. 2012 Mar;16(3):187-92. doi: 10.1089/gtmb.2011.0128. Epub 2011 Oct 12.

PMID:
21992462
29.

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.

Kissel JT, Scott CB, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Bromberg MB, Chan GM, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators' Network.

PLoS One. 2011;6(7):e21296. doi: 10.1371/journal.pone.0021296. Epub 2011 Jul 6.

30.

Technical standards and guidelines for spinal muscular atrophy testing.

Prior TW, Nagan N, Sugarman EA, Batish SD, Braastad C.

Genet Med. 2011 Jul;13(7):686-94. doi: 10.1097/GIM.0b013e318220d523.

PMID:
21673580
31.

Cdc25A regulates matrix metalloprotease 1 through Foxo1 and mediates metastasis of breast cancer cells.

Feng X, Wu Z, Wu Y, Hankey W, Prior TW, Li L, Ganju RK, Shen R, Zou X.

Mol Cell Biol. 2011 Aug;31(16):3457-71. doi: 10.1128/MCB.05523-11. Epub 2011 Jun 13.

32.

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW.

J Med Genet. 2011 Aug;48(8):505-12. doi: 10.1136/jmg.2011.088807. Epub 2011 Jun 9.

PMID:
21659347
33.

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

Chong JX, Oktay AA, Dai Z, Swoboda KJ, Prior TW, Ober C.

Eur J Hum Genet. 2011 Oct;19(10):1045-51. doi: 10.1038/ejhg.2011.85. Epub 2011 May 25.

34.

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.

Andrabi S, Bekheirnia MR, Robbins-Furman P, Lewis RA, Prior TW, Potocki L.

Am J Med Genet A. 2011 May;155A(5):1165-9. doi: 10.1002/ajmg.a.33968. Epub 2011 Apr 4.

PMID:
21465659
35.

Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.

Raman SV, Phatak K, Hoyle JC, Pennell ML, McCarthy B, Tran T, Prior TW, Olesik JW, Lutton A, Rankin C, Kissel JT, Al-Dahhak R.

Eur Heart J. 2011 Mar;32(5):561-7. doi: 10.1093/eurheartj/ehq443. Epub 2010 Dec 14.

36.

Spinal muscular atrophy: a time for screening.

Prior TW.

Curr Opin Pediatr. 2010 Dec;22(6):696-702. doi: 10.1097/MOP.0b013e32833f3046. Review.

PMID:
20829691
37.

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

Swoboda KJ, Scott CB, Crawford TO, Simard LR, Reyna SP, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson SL, Maczulski JA, Bromberg MB, Chan GM, Kissel JT; Project Cure Spinal Muscular Atrophy Investigators Network.

PLoS One. 2010 Aug 19;5(8):e12140. doi: 10.1371/journal.pone.0012140.

38.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.

Cottrell CE, Prior TW, Pyatt R, Astbury C, Reshmi S, Bartholomew D, Atkin J, Manickam K, Thrush DL, Pastore M, Mendell J, Tsao CY, Al-Dahhak R, Newmeyer A, Gastier-Foster JM.

Am J Med Genet A. 2010 Sep;152A(9):2301-7. doi: 10.1002/ajmg.a.33532.

PMID:
20683981
39.

Newborn and carrier screening for spinal muscular atrophy.

Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S.

Am J Med Genet A. 2010 Jul;152A(7):1608-16. doi: 10.1002/ajmg.a.33474.

PMID:
20578137
40.

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

McBride KL, Varga EA, Pastore MT, Prior TW, Manickam K, Atkin JF, Herman GE.

Autism Res. 2010 Jun;3(3):137-41. doi: 10.1002/aur.132.

PMID:
20533527
41.

Spinal muscular atrophy: newborn and carrier screening.

Prior TW.

Obstet Gynecol Clin North Am. 2010 Mar;37(1):23-36, Table of Contents. doi: 10.1016/j.ogc.2010.03.001.

PMID:
20494255
42.

Phase II clinical trial of sorafenib in metastatic medullary thyroid cancer.

Lam ET, Ringel MD, Kloos RT, Prior TW, Knopp MV, Liang J, Sammet S, Hall NC, Wakely PE Jr, Vasko VV, Saji M, Snyder PJ, Wei L, Arbogast D, Collamore M, Wright JJ, Moley JF, Villalona-Calero MA, Shah MH.

J Clin Oncol. 2010 May 10;28(14):2323-30. doi: 10.1200/JCO.2009.25.0068. Epub 2010 Apr 5.

43.

Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.

Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW.

Neurology. 2010 Feb 9;74(6):502-6. doi: 10.1212/WNL.0b013e3181cef84a.

PMID:
20142617
44.

Identifying mutations for MYH-associated polyposis.

Prior TW, Bridgeman SJ.

Curr Protoc Hum Genet. 2010 Jan;Chapter 10:Unit 10.13. doi: 10.1002/0471142905.hg1013s64.

PMID:
20063264
45.

Perspectives and diagnostic considerations in spinal muscular atrophy.

Prior TW.

Genet Med. 2010 Mar;12(3):145-52. doi: 10.1097/GIM.0b013e3181c5e713. Review.

PMID:
20057317
46.

A positive modifier of spinal muscular atrophy in the SMN2 gene.

Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT.

Am J Hum Genet. 2009 Sep;85(3):408-13. doi: 10.1016/j.ajhg.2009.08.002. Epub 2009 Aug 27.

47.

Technical standards and guidelines for myotonic dystrophy type 1 testing.

Prior TW; American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee.

Genet Med. 2009 Jul;11(7):552-5. doi: 10.1097/GIM.0b013e3181abce0f.

PMID:
19546810
48.

Phase II open label study of valproic acid in spinal muscular atrophy.

Swoboda KJ, Scott CB, Reyna SP, Prior TW, LaSalle B, Sorenson SL, Wood J, Acsadi G, Crawford TO, Kissel JT, Krosschell KJ, D'Anjou G, Bromberg MB, Schroth MK, Chan GM, Elsheikh B, Simard LR.

PLoS One. 2009;4(5):e5268. doi: 10.1371/journal.pone.0005268. Epub 2009 May 14.

49.

Carrier screening for spinal muscular atrophy.

Prior TW; Professional Practice and Guidelines Committee.

Genet Med. 2008 Nov;10(11):840-2. doi: 10.1097/GIM.0b013e318188d069. No abstract available.

50.

Consensus characterization of 16 FMR1 reference materials: a consortium study.

Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE Jr, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers T, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV; Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee.

J Mol Diagn. 2008 Jan;10(1):2-12. doi: 10.2353/jmoldx.2008.070105. Epub 2007 Dec 28. Erratum in: J Mol Diagn. 2009 Sep 1;11(5):494.

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