Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 137

1.

A systematic review of the effects of CYP2D6 phenotypes on risperidone treatment in children and adolescents.

Dodsworth T, Kim DD, Procyshyn RM, Ross CJ, Honer WG, Barr AM.

Child Adolesc Psychiatry Ment Health. 2018 Jul 16;12:37. doi: 10.1186/s13034-018-0243-2. eCollection 2018. Review.

2.

Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis.

Kowalec K, Wright GEB, Drögemöller BI, Aminkeng F, Bhavsar AP, Kingwell E, Yoshida EM, Traboulsee A, Marrie RA, Kremenchutzky M, Campbell TL, Duquette P, Chalasani N, Wadelius M, Hallberg P, Xia Z, De Jager PL, Denny JC, Davis MF, Ross CJD, Tremlett H, Carleton BC.

Nat Genet. 2018 Aug;50(8):1081-1085. doi: 10.1038/s41588-018-0168-y. Epub 2018 Jul 16.

PMID:
30013178
3.

Pharmacogenomics of vincristine-induced peripheral neuropathy implicates pharmacokinetic and inherited neuropathy genes.

Wright GEB, Amstutz U, Drögemöller BI, Shih J, Rassekh SR, Hayden MR, Carleton BC, Ross CJD; Canadian Pharmacogenomics Network for Drug Safety Consortium.

Clin Pharmacol Ther. 2018 Jul 12. doi: 10.1002/cpt.1179. [Epub ahead of print]

PMID:
29999516
4.

HUME: Large-scale Detection of Causal Genetic Factors of Adverse Drug Reactions.

Mansouri M, Yuan B, Ross CJD, Carleton BC, Ester M.

Bioinformatics. 2018 Jun 19. doi: 10.1093/bioinformatics/bty475. [Epub ahead of print]

PMID:
29931042
5.

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Horvath GA, Zhao Y, Tarailo-Graovac M, Boelman C, Gill H, Shyr C, Lee J, Blydt-Hansen I, Drögemöller BI, Moreland J, Ross CJ, Wasserman WW, Masotti A, Slesinger PA, van Karnebeek CDM.

Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29.

PMID:
29852244
6.

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM.

Hum Mutat. 2018 Jul;39(7):947-953. doi: 10.1002/humu.23538. Epub 2018 May 10.

PMID:
29691939
7.

Unraveling the Motions behind Enterovirus 71 Uncoating.

Ross CJ, Atilgan AR, Tastan Bishop Ö, Atilgan C.

Biophys J. 2018 Feb 27;114(4):822-838. doi: 10.1016/j.bpj.2017.12.021.

PMID:
29490244
8.

Further Investigation of the Role of ACYP2 and WFS1 Pharmacogenomic Variants in the Development of Cisplatin-Induced Ototoxicity in Testicular Cancer Patients.

Drögemöller BI, Brooks B, Critchley C, Monzon JG, Wright GEB, Liu G, Renouf DJ, Kollmannsberger CK, Bedard PL, Hayden MR, Gelmon KA, Carleton BC, Ross CJD.

Clin Cancer Res. 2018 Apr 15;24(8):1866-1871. doi: 10.1158/1078-0432.CCR-17-2810. Epub 2018 Jan 22.

PMID:
29358504
9.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

10.

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.

McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;, Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;, Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;, Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;, Cavalleri GL.

Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29.

11.

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.

Horvath GA, Tarailo-Graovac M, Bartel T, Race S, Van Allen MI, Blydt-Hansen I, Ross CJ, Wasserman WW, Connolly MB, van Karnebeek CDM.

J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.

PMID:
29246092
12.

Exploring genetic influences underlying acute aerobic exercise effects on motor learning.

Mang CS, McEwen LM, MacIsaac JL, Snow NJ, Campbell KL, Kobor MS, Ross CJD, Boyd LA.

Sci Rep. 2017 Sep 21;7(1):12123. doi: 10.1038/s41598-017-12422-3.

13.

Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children With Cerebral Palsy.

McLaughlin MJ, He Y, Brunstrom-Hernandez J, Thio LL, Carleton BC, Ross CJD, Gaedigk A, Lewandowski A, Dai H, Jusko WJ, Leeder JS.

PM R. 2018 Mar;10(3):235-243. doi: 10.1016/j.pmrj.2017.08.441. Epub 2017 Sep 1.

PMID:
28867665
14.

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD.

Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1.

PMID:
28778789
15.

Application of pharmacogenomics to investigate adverse drug reactions to the disease-modifying treatments for multiple sclerosis: a case-control study protocol for dimethyl fumarate-induced lymphopenia.

Kowalec K, Kingwell E, Carruthers R, Marrie RA, Bernatsky S, Traboulsee A, Ross CJD, Carleton B, Tremlett H.

BMJ Open. 2017 Jun 2;7(5):e016276. doi: 10.1136/bmjopen-2017-016276.

16.

A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis.

Ross CJ, Towfic F, Shankar J, Laifenfeld D, Thoma M, Davis M, Weiner B, Kusko R, Zeskind B, Knappertz V, Grossman I, Hayden MR.

Genome Med. 2017 May 31;9(1):50. doi: 10.1186/s13073-017-0436-y.

17.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
18.

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK.

Child Neurol Open. 2016 Sep 26;3:2329048X16669912. doi: 10.1177/2329048X16669912. eCollection 2016 Jan-Dec.

19.

Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer.

Drögemöller BI, Monzon JG, Bhavsar AP, Borrie AE, Brooks B, Wright GEB, Liu G, Renouf DJ, Kollmannsberger CK, Bedard PL, Aminkeng F, Amstutz U, Hildebrand CA, Gunaretnam EP, Critchley C, Chen Z, Brunham LR, Hayden MR, Ross CJD, Gelmon KA, Carleton BC.

JAMA Oncol. 2017 Nov 1;3(11):1558-1562. doi: 10.1001/jamaoncol.2017.0502.

20.

A case of splenomegaly in CBL syndrome.

Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM.

Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13.

PMID:
28414188
21.

Pharmacogenetic variants in TPMT alter cellular responses to cisplatin in inner ear cell lines.

Bhavsar AP, Gunaretnam EP, Li Y, Hasbullah JS, Carleton BC, Ross CJ.

PLoS One. 2017 Apr 13;12(4):e0175711. doi: 10.1371/journal.pone.0175711. eCollection 2017.

22.

Pharmacogenomic screening for anthracycline-induced cardiotoxicity in childhood cancer.

Aminkeng F, Ross CJD, Rassekh SR, Rieder MJ, Bhavsar AP, Sanatani S, Bernstein D, Hayden MR, Amstutz U, Carleton BC.

Br J Clin Pharmacol. 2017 May;83(5):1143-1145. doi: 10.1111/bcp.13218. Epub 2017 Mar 19. No abstract available.

23.

Design and Methods of the Pan-Canadian Applying Biomarkers to Minimize Long-Term Effects of Childhood/Adolescent Cancer Treatment (ABLE) Nephrotoxicity Study: A Prospective Observational Cohort Study.

McMahon KR, Rod Rassekh S, Schultz KR, Pinsk M, Blydt-Hansen T, Mammen C, Tsuyuki RT, Devarajan P, Cuvelier GD, Mitchell LG, Baruchel S, Palijan A, Carleton BC, Ross CJ, Zappitelli M; Applying Biomarkers to Minimize Long-Term Effects of Childhood/Adolescent Cancer Treatment (ABLE) Research Group.

Can J Kidney Health Dis. 2017 Feb 16;4:2054358117690338. doi: 10.1177/2054358117690338. eCollection 2017.

24.

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Armstrong L, Tarailo-Graovac M, Sinclair G, Seath KI, Wasserman WW, Ross CJ, van Karnebeek CD.

Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621.

PMID:
28211985
25.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Tarailo-Graovac M, Drögemöller BI, Wasserman WW, Ross CJ, van den Ouweland AM, Darin N, Kollberg G, van Karnebeek CD, Blomqvist M.

Orphanet J Rare Dis. 2017 Feb 10;12(1):28. doi: 10.1186/s13023-017-0584-6.

26.

The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America.

Kay C, Tirado-Hurtado I, Cornejo-Olivas M, Collins JA, Wright G, Inca-Martinez M, Veliz-Otani D, Ketelaar ME, Slama RA, Ross CJ, Mazzetti P, Hayden MR.

Eur J Hum Genet. 2017 Feb;25(3):332-340. doi: 10.1038/ejhg.2016.169. Epub 2016 Dec 21.

27.

The global spectrum of protein-coding pharmacogenomic diversity.

Wright GEB, Carleton B, Hayden MR, Ross CJD.

Pharmacogenomics J. 2018 Jan;18(1):187-195. doi: 10.1038/tpj.2016.77. Epub 2016 Oct 25.

28.

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C.

Neuron. 2016 Oct 19;92(2):555. doi: 10.1016/j.neuron.2016.09.028. No abstract available.

29.

Case-Control Studies Are Not Familial Studies.

Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C.

Neuron. 2016 Oct 19;92(2):339-341. doi: 10.1016/j.neuron.2016.09.053.

30.

Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C.

Neuron. 2016 Oct 19;92(2):331-332. doi: 10.1016/j.neuron.2016.10.008. No abstract available.

31.

Efficiency plus empowerment Advanced middleware can keep your laboratory tuned in, on track, and in control.

Ross CJ.

MLO Med Lab Obs. 2016 Oct;48(10):40. No abstract available.

PMID:
30047655
32.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

33.

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C.

Neuron. 2016 Jun 1;90(5):948-54. doi: 10.1016/j.neuron.2016.04.039.

34.

A Tetra-Primer Amplification Refractory System Technique for the Cost-Effective and Novel Genotyping of Eight Single-Nucleotide Polymorphisms of the Catechol-O-Methyltransferase Gene.

Wang CK, Aleksic A, Xu MS, Procyshyn RM, Ross CJ, Vila-Rodriguez F, Ramos-Miguel A, Yan R, Honer WG, Barr AM.

Genet Test Mol Biomarkers. 2016 Aug;20(8):465-70. doi: 10.1089/gtmb.2015.0304. Epub 2016 May 26.

PMID:
27228319
35.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Erratum in: Nat Genet. 2017 May 26;49(6):969.

36.

Recommendations for genetic testing to reduce the incidence of anthracycline-induced cardiotoxicity.

Aminkeng F, Ross CJ, Rassekh SR, Hwang S, Rieder MJ, Bhavsar AP, Smith A, Sanatani S, Gelmon KA, Bernstein D, Hayden MR, Amstutz U, Carleton BC; CPNDS Clinical Practice Recommendations Group.

Br J Clin Pharmacol. 2016 Sep;82(3):683-95. doi: 10.1111/bcp.13008. Epub 2016 Jun 30. Review.

37.

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.

Anastasio N, Tarailo-Graovac M, Al-Khalifah R, Legault L, Drogemoller B, Ross CJ, Wasserman WW, van Karnebeek C, Buhas D.

JIMD Rep. 2017;31:57-62. doi: 10.1007/8904_2016_557. Epub 2016 Apr 14.

38.

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD.

Mol Genet Metab. 2016 May;118(1):21-7. doi: 10.1016/j.ymgme.2016.03.001. Epub 2016 Mar 4.

PMID:
26971250
39.

Clinical Practice Recommendations for the Management and Prevention of Cisplatin-Induced Hearing Loss Using Pharmacogenetic Markers.

Lee JW, Pussegoda K, Rassekh SR, Monzon JG, Liu G, Hwang S, Bhavsar AP, Pritchard S, Ross CJ, Amstutz U, Carleton BC; CPNDS Clinical Recommendations Group.

Ther Drug Monit. 2016 Aug;38(4):423-31. doi: 10.1097/FTD.0000000000000298. Review.

40.

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT.

Hum Mutat. 2016 Mar;37(3):301-7. doi: 10.1002/humu.22946. Epub 2016 Jan 12.

41.

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Horvath GA, Demos M, Shyr C, Matthews A, Zhang L, Race S, Stockler-Ipsiroglu S, Van Allen MI, Mancarci O, Toker L, Pavlidis P, Ross CJ, Wasserman WW, Trump N, Heales S, Pope S, Cross JH, van Karnebeek CD.

Mol Genet Metab. 2016 Jan;117(1):42-8. doi: 10.1016/j.ymgme.2015.11.008. Epub 2015 Nov 17.

PMID:
26647175
42.

Forensic Investigation of Methadone Concentrations in Deceased Breastfed Infants.

Madadi P, Kelly LE, Ross CJ, Kepron C, Edwards JN, Koren G.

J Forensic Sci. 2016 Mar;61(2):576-580. doi: 10.1111/1556-4029.12972. Epub 2015 Oct 29.

PMID:
26513313
43.

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

Langlois S, Tarailo-Graovac M, Sayson B, Drögemöller B, Swenerton A, Ross CJ, Wasserman WW, van Karnebeek CD.

Eur J Hum Genet. 2016 Jun;24(6):949-53. doi: 10.1038/ejhg.2015.217. Epub 2015 Oct 21. Review.

44.

Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics.

Chan SL, Samaranayake N, Ross CJ, Toh MT, Carleton B, Hayden MR, Teo YY, Dissanayake VH, Brunham LR.

Pharmacogenet Genomics. 2016 Jan;26(1):28-39. doi: 10.1097/FPC.0000000000000182.

45.

A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer.

Aminkeng F, Bhavsar AP, Visscher H, Rassekh SR, Li Y, Lee JW, Brunham LR, Caron HN, van Dalen EC, Kremer LC, van der Pal HJ, Amstutz U, Rieder MJ, Bernstein D, Carleton BC, Hayden MR, Ross CJ; Canadian Pharmacogenomics Network for Drug Safety Consortium.

Nat Genet. 2015 Sep;47(9):1079-84. doi: 10.1038/ng.3374. Epub 2015 Aug 3.

46.

Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children.

Visscher H, Rassekh SR, Sandor GS, Caron HN, van Dalen EC, Kremer LC, van der Pal HJ, Rogers PC, Rieder MJ, Carleton BC, Hayden MR, Ross CJ; CPNDS consortium.

Pharmacogenomics. 2015;16(10):1065-76. doi: 10.2217/pgs.15.61. Epub 2015 Jul 31.

PMID:
26230641
47.

Huntingtin Haplotypes Provide Prioritized Target Panels for Allele-specific Silencing in Huntington Disease Patients of European Ancestry.

Kay C, Collins JA, Skotte NH, Southwell AL, Warby SC, Caron NS, Doty CN, Nguyen B, Griguoli A, Ross CJ, Squitieri F, Hayden MR.

Mol Ther. 2015 Nov;23(11):1759-1771. doi: 10.1038/mt.2015.128. Epub 2015 Jul 23.

48.

Development of a cost-efficient novel method for rapid, concurrent genotyping of five common single nucleotide polymorphisms of the brain derived neurotrophic factor (BDNF) gene by tetra-primer amplification refractory mutation system.

Wang CK, Xu MS, Ross CJ, Lo R, Procyshyn RM, Vila-Rodriguez F, White RF, Honer WG, Barr AM.

Int J Methods Psychiatr Res. 2015 Sep;24(3):235-44. doi: 10.1002/mpr.1475. Epub 2015 Jun 29.

PMID:
26118823
49.

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.

Sirrs S, van Karnebeek CD, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, Testa D, Dubin D, Carbonetti G, Glynn SE, Sayson B, Robinson WP, Han B, Wishart D, Ross CJ, Wasserman WW, Hurwitz TA, Sinclair G, Kaczocha M.

Orphanet J Rare Dis. 2015 Mar 28;10:38. doi: 10.1186/s13023-015-0248-3.

50.

The genotypic and phenotypic spectrum of PIGA deficiency.

Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD.

Orphanet J Rare Dis. 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8.

Supplemental Content

Support Center