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Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.
Haghshenas S, Bhai P, Aref-Eshghi E, Sadikovic B.
Int J Mol Sci. 2020 Dec 6. doi: 10.3390/ijms21239303. PMID: 33291301 

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, ... Alders M.
Genet Med. 2021 Jun. doi: 10.1038/s41436-020-01096-4. Epub 2021 Feb 5. PMID: 33547396 

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, ... Sadikovic B.
HGG Adv. 2021 Dec 3. doi: 10.1016/j.xhgg.2021.100075. PMID: 35047860 

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A, Haghshenas S, Bhai P, Levy MA, Kerkhof J, McConkey H, Niceta M, M, Sadikovic B, ... Lebre AS.
Int J Mol Sci. 2022 Feb 5. doi: 10.3390/ijms23031815. PMID: 35163737 

DNA methylation episignature in Gabriele-de Vries syndrome.
Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Sadikovic B, … Genevieve D.
Genet Med. 2022 Apr. doi: 10.1016/j.gim.2021.12.003. Epub 2022 Jan 10. PMID: 35027293 

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Sadikovic B, … Stevenson RE.
Eur J Hum Genet. 2022 Apr. doi: 10.1038/s41431-021-01018-1. Epub 2022 Jan 7. PMID: 34992252 

Serum erythropoietin levels in 696 patients investigated for erythrocytosis with JAK2 mutation analysis.
Chin-Yee B, Cheong I, Matyashin M, Lazo-Langner A, Chin-Yee I, Bhayana V, Bhai P, Lin H, Sadikovic B, Hsia CC.
Am J Hematol. 2022 Apr. doi: 10.1002/ajh.26471. Epub 2022 Jan 26. PMID: 35045195 

Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
Paparella A, Squeo GM, Di Venere E, Cardea E, Mazza T, Castellana S, Kerkhof J, McConkey H, Sadikovic B, Sinibaldi L, Digilio MC, Merla G.
J Hum Genet. 2022 Sep. doi: 10.1038/s10038-022-01043-y. Epub 2022 May 18. PMID: 35581385 

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, … Freeth M; Genomics England Research Consortium, Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A.
Genet Med. 2022 Jun. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24. PMID: 35341651 

Clinical Utility of Implementing a Frontline NGS-Based DNA and RNA Fusion Panel Test for Patients with Suspected Myeloid Malignancies.
Bhai P, Hsia CC, Schenkel LC, Hedley BD, Levy MA, Kerkhof J, Santos S, … Sadikovic B.
Mol Diagn Ther. 2022 May. doi: 10.1007/s40291-022-00581-7. Epub 2022 Apr 5. PMID: 35381971 

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, ... Sadikovic B, Prontera P.
Int J Mol Sci. 2021 Aug 10. doi: 10.3390/ijms22168611. PMID: 34445317 

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, ... Sadikovic B, Fahrner JA.
NPJ Genom Med. 2021 Nov 8. doi: 10.1038/s41525-021-00256-y. PMID: 34750377 

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.
Haghshenas S, Levy MA, Kerkhof J, Aref-Eshghi E, McConkey H, Balci T, Siu VM, Skinner CD, Stevenson RE, Sadikovic B, Schwartz C.
Int J Mol Sci. 2021 Jan 23. doi: 10.3390/ijms22031111. PMID: 33498634  

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, ... Sadikovic B. Front Genet. 2021 Jul 13. doi: 10.3389/fgene.2021.698595. PMID: 34326862 

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, … Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M.
Am J Hum Genet. 2021 Mar 4. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. PMID: 33596411 

The Long Non-Coding RNA HOTAIR Is a Critical Epigenetic Mediator of Angiogenesis in Diabetic Retinopathy.
Biswas S, Feng B, Chen S, Liu J, Aref-Eshghi E, Gonder J, Ngo V, Sadikovic B, Chakrabarti S.
Invest Ophthalmol Vis Sci. 2021 Mar 1. doi: 10.1167/iovs.62.3.20. PMID: 33724292 

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.
Gong B, Li D, Kusko R, Novoradovskaya N, Zhang Y, Wang S, Pabón-Peña C, ... Xu J.
Genome Biol. 2021 Apr 16. doi: 10.1186/s13059-021-02315-0. PMID: 33863344 

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, ... Sadikovic B, Banka S, Arold ST, Barakat TS.
Genet Med. 2021 Nov. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. PMID: 34345025 

Incidental findings from cancer next generation sequencing panels.
Maani N, Panabaker K, McCuaig JM, Buckley K, Semotiuk K, Farncombe KM, Ainsworth P, ... Kim RH.
NPJ Genom Med. 2021 Jul 19. doi: 10.1038/s41525-021-00224-6. PMID: 34282142 

Consensus Recommendations for MRD Testing in Adult B-Cell Acute Lymphoblastic Leukemia in Ontario.
Tierens A, Stockley TL, Campbell C, Fulcher J, Leber B, McCready E, Sabatini PJB, Sadikovic B, Schuh AC.
Curr Oncol. 2021 Mar 30. doi: 10.3390/curroncol28020131. PMID: 33808300 

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.
Gong B, Li D, Kusko R, Novoradovskaya N, Zhang Y, Wang S, Pabón-Peña C, ... Xu J.
Genome Biol. 2021 Apr 16. doi: 10.1186/s13059-021-02315-0. PMID: 33863344 

A Pan-Canadian Validation Study for the Detection of EGFR T790M Mutation Using Circulating Tumor DNA From Peripheral Blood.
Selvarajah S, Plante S, Speevak M, Vaags A, Hamelinck D, Butcher M, McCready E, ... Joubert P.
JTO Clin Res Rep. 2021 Jul 13. doi: 10.1016/j.jtocrr.2021.100212. PMID: 34590051 

Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours.
Bartlett J, Amemiya Y, Arts H, Bayani J, Eng B, Grafodatskaya D, Kamel Reid S, ... Feilotter H.
PLoS One. 2021 Oct 1. doi: 10.1371/journal.pone.0258188. PMID: 34597339 

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, ... Sadikovic B.
Clin Epigenetics. 2021 Jan 6. doi: 10.1186/s13148-020-00990-7. PMID: 33407854

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, ... Brunetti-Pierri N.
Genet Med. 2020 Jul 22. doi: 10.1038/s41436-020-0898-y. Online ahead of print. PMID: 32694869

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.
Sadikovic B, Levy MA, Aref-Eshghi E.
Hum Mol Genet. 2020 Jul 9:ddaa144. doi: 10.1093/hmg/ddaa144. Online ahead of print. PMID: 32644126

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
Aref-Eshghi E, McGee JD, Pedro VP, Kerkhof J, Stuart A, Ainsworth PJ, Lin H, ... Sadikovic B.
J Hum Genet. 2020 Jun 1. doi: 10.1038/s10038-020-0780-4. Online ahead of print. PMID: 32483276

Glucose-induced, duration-dependent genome-wide DNA methylation changes in human endothelial cells. 
Aref-Eshghi E, Biswas S, Chen C, Sadikovic B, Chakrabarti S.
Am J Physiol Cell Physiol. 2020 Aug 1;319(2):C268-C276. doi: 10.1152/ajpcell.00011.2020. Epub 2020 May 27. PMID: 32459505

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France, Barat-Houari M , ...  Sadikovic B.
Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. PMID: 32109418

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 , ... Tartaglia M.
Clin Epigenetics. 2020 Jan 7;12(1):7. doi: 10.1186/s13148-019-0804-0. PMID: 31910894

A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, ... Mannens MMAM.
Clin Epigenetics. 2019 Nov 4;11(1):156. doi: 10.1186/s13148-019-0749-3. PMID: 31685013

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, ... Thornton JM.
Genome Biol. 2019 Aug 14;20(1):146. doi: 10.1186/s13059-019-1753-9. PMID: 31409373

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

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 , ... Sadikovic B.
Clin Epigenetics. 2019 Apr 27;11(1):64. doi: 10.1186/s13148-019-0658-5. PMID: 31029150

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, ... 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. PMID: 30929737

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

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, ... Sadikovic B.
Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y. PMID: 30459321

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. doi: 10.33549/physiolres.933836. PMID: 29947532

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. PMID: 29740534

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. PMID: 29695738

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, ... Sadikovic B.
Clin Epigenetics. 2018 Feb 14;10:21. doi: 10.1186/s13148-018-0453-8. eCollection 2018. PMID: 29456765

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, ... Sadikovic B.
Am J Hum Genet. 2018 Jan 4;102(1):156-174. doi: 10.1016/j.ajhg.2017.12.008. PMID: 29304373

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, ... Sadikovic B.
Epigenetics. 2017;12(11):923-933. doi: 10.1080/15592294.2017.1381807. Epub 2017 Nov 7. PMID: 28933623

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, ... Sadikovic B.
J Mol Diagn. 2017 Nov;19(6):848-856. doi: 10.1016/j.jmoldx.2017.07.002. Epub 2017 Aug 12. PMID: 28807811

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, ... Sadikovic B.
Epigenetics Chromatin. 2017 Mar 10;10:10. doi: 10.1186/s13072-017-0118-4. eCollection 2017. PMID: 28293299

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. PMID: 28180025

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. PMID: 27934915

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. PMID: 27585064

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 , ... Sadikovic B.
Clin Epigenetics. 2016 Sep 5;8(1):91. doi: 10.1186/s13148-016-0254-x. eCollection 2016. PMID: 27602171

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. PMID: 26758403