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Items: 1 to 50 of 69

1.

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, Kooy RF, Dallapiccola B, Sadikovic B, Tartaglia M.

Clin Epigenetics. 2020 Jan 7;12(1):7. doi: 10.1186/s13148-019-0804-0.

2.

Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Spence T, Stickle N, Yu C, Chow H, Feilotter H, Lo B, McCready E, Sadikovic B, Siu LL, Bedard PL, Stockley TL.

Curr Oncol. 2019 Dec;26(6):e717-e732. doi: 10.3747/co.26.5379. Epub 2019 Dec 1.

3.

OCTANE (Ontario-wide Cancer Targeted Nucleic Acid Evaluation): a platform for intraprovincial, national, and international clinical data-sharing.

Malone ER, Saleh RR, Yu C, Ahmed L, Pugh T, Torchia J, Bartlett J, Virtanen C, Hotte SJ, Hilton J, Welch S, Robinson A, McCready E, Lo B, Sadikovic B, Feilotter H, Hanna TP, Kamel-Reid S, Stockley TL, Siu LL, Bedard PL.

Curr Oncol. 2019 Oct;26(5):e618-e623. doi: 10.3747/co.26.5235. Epub 2019 Oct 1.

4.

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM.

Clin Epigenetics. 2019 Nov 4;11(1):156. doi: 10.1186/s13148-019-0749-3.

5.

Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.

Dyment DA, Prasad AN, Boycott KM, Ediae GU, Hartley T, Hassan A, Muir KE, Potter M, Boisse Lomax L, Jarinova O, Sadikovic B, Stavropoulos DJ, Snead OC.

Can J Neurol Sci. 2019 Oct 7:1-8. doi: 10.1017/cjn.2019.304. [Epub ahead of print]

PMID:
31587668
6.

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Heighton JN, Brady LI, Sadikovic B, Bulman DE, Tarnopolsky MA.

Mitochondrion. 2019 Nov;49:227-231. doi: 10.1016/j.mito.2019.09.002. Epub 2019 Sep 12.

PMID:
31521625
7.

Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.

Martin-Herranz DE, Aref-Eshghi E, Bonder MJ, Stubbs TM, Choufani S, Weksberg R, Stegle O, Sadikovic B, Reik W, Thornton JM.

Genome Biol. 2019 Aug 14;20(1):146. doi: 10.1186/s13059-019-1753-9.

8.

Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.

Aref-Eshghi E, Bourque DK, Kerkhof J, Carere DA, Ainsworth P, Sadikovic B, Armour CM, Lin H.

Hum Mutat. 2019 Oct;40(10):1684-1689. doi: 10.1002/humu.23833. Epub 2019 Jul 3.

PMID:
31268616
9.

Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.

Levy MA, Santos S, Kerkhof J, Stuart A, Aref-Eshghi E, Guo F, Hedley B, Wong H, Rauh M, Feilotter H, Berardi P, Semenuk L, Yang P, Knoll J, Ainsworth P, McLachlin CM, Chin-Yee I, Kovacs M, Deotare U, Lazo-Langner A, Hsia C, Keeney M, Xenocostas A, Howlett C, Lin H, Sadikovic B.

Eur J Haematol. 2019 Sep;103(3):178-189. doi: 10.1111/ejh.13272. Epub 2019 Jul 30.

PMID:
31177553
10.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B.

Clin Epigenetics. 2019 Apr 27;11(1):64. doi: 10.1186/s13148-019-0658-5.

11.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B.

Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28.

12.

DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype.

Sadikovic B, Aref-Eshghi E, Levy MA, Rodenhiser D.

Epigenomics. 2019 Apr;11(5):563-575. doi: 10.2217/epi-2018-0192. Epub 2019 Mar 15.

PMID:
30875234
13.

Genomic data in prognostic models-what is lost in translation? The case of deletion 17p and mutant TP53 in chronic lymphocytic leukaemia.

Chin-Yee B, Sadikovic B, Chin-Yee IH.

Br J Haematol. 2019 Mar 5. doi: 10.1111/bjh.15827. [Epub ahead of print]

PMID:
30836431
14.

A Case of SF3B1-Positive Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis

Lazo-Langner A, Sadikovic B.

Turk J Haematol. 2019 Feb 7;36(1):48-49. doi: 10.4274/tjh.galenos.2018.2018.0267. Epub 2018 Nov 23. No abstract available.

15.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B.

Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y.

16.

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC.

Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632.

17.

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.

Žigman T, Petković Ramadža D, Lušić M, Zekušić M, Ninković D, Gardijan D, Potočki K, Omerza L, Beljan L, Žarković K, Kerkhof J, Ljubojević M, de Sain-van der Velden M, Vuković J, Fumić K, Sadiković B, Barić I.

J Pediatr Endocrinol Metab. 2018 Oct 25;31(10):1155-1159. doi: 10.1515/jpem-2017-0397.

PMID:
30243016
18.

Endothelin-1 regulation is entangled in a complex web of epigenetic mechanisms in diabetes.

Biswas S, Feng B, Thomas A, Chen S, Aref-Eshghi E, Sadikovic B, Chakrabarti S.

Physiol Res. 2018 Jun 27;67(Suppl 1):S115-S125.

19.

Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues.

Aref-Eshghi E, Schenkel LC, Ainsworth P, Lin H, Rodenhiser DI, Cutz JC, Sadikovic B.

Front Oncol. 2018 Apr 23;8:100. doi: 10.3389/fonc.2018.00100. eCollection 2018.

20.

MALAT1: An Epigenetic Regulator of Inflammation in Diabetic Retinopathy.

Biswas S, Thomas AA, Chen S, Aref-Eshghi E, Feng B, Gonder J, Sadikovic B, Chakrabarti S.

Sci Rep. 2018 Apr 25;8(1):6526. doi: 10.1038/s41598-018-24907-w.

21.

CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation.

Tarnopolsky MA, Sundaram ANE, Provias J, Brady L, Sadikovic B.

Mitochondrion. 2019 May;46:69-72. doi: 10.1016/j.mito.2018.02.008. Epub 2018 Mar 6.

PMID:
29501485
22.

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.

Schenkel LC, Aref-Eshghi E, Skinner C, Ainsworth P, Lin H, Paré G, Rodenhiser DI, Schwartz C, Sadikovic B.

Clin Epigenetics. 2018 Feb 14;10:21. doi: 10.1186/s13148-018-0453-8. eCollection 2018.

23.

Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation.

Brady L, Sadikovic B, Rupar CA, Tarnopolsky MA.

Mitochondrion. 2019 Mar;45:18-21. doi: 10.1016/j.mito.2018.01.010. Epub 2018 Feb 1.

PMID:
29408632
24.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Hood RL, Bulman DE, Kernohan KD; Care4Rare Canada Consortium, Boycott KM, Campeau PM, Schwartz C, Sadikovic B.

Am J Hum Genet. 2018 Jan 4;102(1):156-174. doi: 10.1016/j.ajhg.2017.12.008.

25.

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.

Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LC.

PLoS One. 2017 Nov 20;12(11):e0188610. doi: 10.1371/journal.pone.0188610. eCollection 2017.

26.

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Rodenhiser D, Schwartz C, Sadikovic B.

Epigenetics. 2017;12(11):923-933. doi: 10.1080/15592294.2017.1381807. Epub 2017 Nov 7.

27.

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.

Kerkhof J, Schenkel LC, Reilly J, McRobbie S, Aref-Eshghi E, Stuart A, Rupar CA, Adams P, Hegele RA, Lin H, Rodenhiser D, Knoll J, Ainsworth PJ, Sadikovic B.

J Mol Diagn. 2017 Nov;19(6):905-920. doi: 10.1016/j.jmoldx.2017.07.004. Epub 2017 Aug 15.

28.

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.

Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Siu V, Rodenhiser D, Schwartz C, Sadikovic B.

J Mol Diagn. 2017 Nov;19(6):848-856. doi: 10.1016/j.jmoldx.2017.07.002. Epub 2017 Aug 12.

29.

An aggressive multifocal primary CNS histiocytosis with PTPN11 (Shp2) mutation.

Zhang Q, Shibani A, Sadikovic B, Howlett CJ, Ang LC.

Neuropathol Appl Neurobiol. 2018 Feb;44(2):240-243. doi: 10.1111/nan.12404. No abstract available.

PMID:
28403515
30.

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

Schenkel LC, Kernohan KD, McBride A, Reina D, Hodge A, Ainsworth PJ, Rodenhiser DI, Pare G, Bérubé NG, Skinner C, Boycott KM, Schwartz C, Sadikovic B.

Epigenetics Chromatin. 2017 Mar 10;10:10. doi: 10.1186/s13072-017-0118-4. eCollection 2017.

31.

Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.

Schenkel LC, Rodenhiser D, Siu V, McCready E, Ainsworth P, Sadikovic B.

J Pediatr Genet. 2017 Mar;6(1):30-41. doi: 10.1055/s-0036-1593849. Epub 2016 Nov 8. Review.

32.

The defining DNA methylation signature of Floating-Harbor Syndrome.

Hood RL, Schenkel LC, Nikkel SM, Ainsworth PJ, Pare G, Boycott KM, Bulman DE, Sadikovic B.

Sci Rep. 2016 Dec 9;6:38803. doi: 10.1038/srep38803.

33.

Movement Disorders Associated With Hemochromatosis.

Kumar N, Rizek P, Sadikovic B, Adams PC, Jog M.

Can J Neurol Sci. 2016 Nov;43(6):801-808.

PMID:
27827297
34.

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array.

Schenkel LC, Schwartz C, Skinner C, Rodenhiser DI, Ainsworth PJ, Pare G, Sadikovic B.

J Mol Diagn. 2016 Nov;18(6):834-841. doi: 10.1016/j.jmoldx.2016.06.005. Epub 2016 Aug 29.

35.

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

Lanktree MB, Sadikovic B, Waye JS, Levstik A, Lanktree BB, Yudin J, Crowther MA, Pare G, Adams PC.

Eur J Haematol. 2017 Mar;98(3):228-234. doi: 10.1111/ejh.12820. Epub 2016 Nov 11.

PMID:
27753142
36.

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.

Kernohan KD, Cigana Schenkel L, Huang L, Smith A, Pare G, Ainsworth P; Care4Rare Canada Consortium, Boycott KM, Warman-Chardon J, Sadikovic B.

Clin Epigenetics. 2016 Sep 5;8:91. doi: 10.1186/s13148-016-0254-x. eCollection 2016.

37.

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B.

J Mol Diagn. 2016 Sep;18(5):657-667. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2.

38.

DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome.

Schenkel LC, Rodenhiser DI, Ainsworth PJ, Paré G, Sadikovic B.

Crit Rev Clin Lab Sci. 2016;53(3):147-65. doi: 10.3109/10408363.2015.1113496. Epub 2016 Jan 12. Review.

PMID:
26758403
39.

Gender and BCR-ABL transcript type are correlated with molecular response to imatinib treatment in patients with chronic myeloid leukemia.

Lin HX, Sjaarda J, Dyck J, Stringer R, Hillis C, Harvey M, Carter R, Ainsworth P, Leber B, Pare G, Sadikovic B.

Eur J Haematol. 2016 Apr;96(4):360-6. doi: 10.1111/ejh.12597. Epub 2015 Jul 3.

PMID:
26059983
40.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists.

J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7.

41.

Examining the clinical use of hemochromatosis genetic testing.

Lanktree MB, Lanktree BB, Paré G, Waye JS, Sadikovic B, Crowther MA.

Can J Gastroenterol Hepatol. 2015 Jan-Feb;29(1):41-5.

42.

A 42-year-old man with elevated ferritin.

Lanktree MB, Sadikovic B, Crowther MA.

CMAJ. 2015 Aug 11;187(11):820-821. doi: 10.1503/cmaj.140259. Epub 2014 Oct 6. Review. No abstract available.

43.

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Zeesman S, McCready E, Sadikovic B, Nowaczyk MJ.

Am J Med Genet A. 2015 Jan;167A(1):180-4. doi: 10.1002/ajmg.a.36790. Epub 2014 Oct 6.

PMID:
25287655
44.

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B, Fernandes P, Zhang VW, Ward PA, Miloslavskaya I, Rhead W, Rosenbaum R, Gin R, Roa B, Fang P.

Hum Mutat. 2014 Dec;35(12):1407-17. doi: 10.1002/humu.22687.

PMID:
25212744
45.

Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer.

Bell K, Hodgson N, Levine M, Sadikovic B, Zbuk K.

Breast Cancer Res Treat. 2014 Jul;146(2):447-50. doi: 10.1007/s10549-014-3011-x. Epub 2014 Jun 12.

PMID:
24916180
46.

Genomics and epigenomics in pediatric oncology and clinical laboratory genetics.

Sadikovic B, Pare G.

Clin Biochem. 2014 Jun;47(9):731-2. doi: 10.1016/j.clinbiochem.2014.05.033. Epub 2014 May 20. No abstract available.

PMID:
24858242
47.

Recurrent genomic alterations in sequential progressive leukoplakia and oral cancer: drivers of oral tumorigenesis?

Cervigne NK, Machado J, Goswami RS, Sadikovic B, Bradley G, Perez-Ordonez B, Galloni NN, Gilbert R, Gullane P, Irish JC, Jurisica I, Reis PP, Kamel-Reid S.

Hum Mol Genet. 2014 May 15;23(10):2618-28. doi: 10.1093/hmg/ddt657. Epub 2014 Jan 8.

48.

NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation.

Mahadevan S, Wen S, Wan YW, Peng HH, Otta S, Liu Z, Iacovino M, Mahen EM, Kyba M, Sadikovic B, Van den Veyver IB.

Hum Mol Genet. 2014 Feb 1;23(3):706-16. doi: 10.1093/hmg/ddt457. Epub 2013 Sep 18.

49.

Array comparative genomic hybridization in osteosarcoma.

Sadikovic B, Park PC, Selvarajah S, Zielenska M.

Methods Mol Biol. 2013;973:227-47. doi: 10.1007/978-1-62703-281-0_15. Review.

PMID:
23412794
50.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL.

Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109. Epub 2012 May 7.

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