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Items: 1 to 50 of 219

1.

Impact of Assisted Reproduction, Infertility, Sex, and Paternal Factors on the Placental DNA Methylome.

Choufani S, Turinsky AL, Melamed N, Greenblatt E, Brudno M, Bérard A, Fraser WD, Weksberg R, Trasler J, Monnier P, Study Group FTDC.

Hum Mol Genet. 2018 Sep 19. doi: 10.1093/hmg/ddy321. [Epub ahead of print]

PMID:
30239726
2.

DNA Methylation and the YAP/WWTR1 Pathway Prevent Pathologic Remodeling during Bladder Obstruction by Limiting Expression of BDNF.

Sidler M, Aitken KJ, Jiang JX, Sotiropoulos C, Aggarwal P, Anees A, Chong C, Siebenaller A, Thanabalasingam T, White JM, Choufani S, Weksberg R, Sangiorgi B, Wrana J, Delgado-Olguin P, Bägli DJ.

Am J Pathol. 2018 Aug 17. pii: S0002-9440(17)31038-6. doi: 10.1016/j.ajpath.2018.06.024. [Epub ahead of print]

PMID:
30121256
3.

Vitamin D Supplementation in Pregnancy and Lactation and Infant Growth.

Roth DE, Morris SK, Zlotkin S, Gernand AD, Ahmed T, Shanta SS, Papp E, Korsiak J, Shi J, Islam MM, Jahan I, Keya FK, Willan AR, Weksberg R, Mohsin M, Rahman QS, Shah PS, Murphy KE, Stimec J, Pell LG, Qamar H, Al Mahmud A.

N Engl J Med. 2018 Aug 9;379(6):535-546. doi: 10.1056/NEJMoa1800927.

4.

Brain development and heart function after systemic single-agent chemotherapy in a mouse model of childhood leukemia treatment.

Spencer Noakes TL, Przybycien TS, Forwell A, Nicholls CJ, Zhou YQ, Butcher DT, Weksberg R, Guger SL, Spiegler BJ, Schachar RJ, Hitzler J, Ito S, van der Plas E, Nieman BJ.

Clin Cancer Res. 2018 Jul 27. pii: clincanres.0551.2018. doi: 10.1158/1078-0432.CCR-18-0551. [Epub ahead of print]

PMID:
30054283
5.

Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.

Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Hon-Yin Chung B.

J Med Genet. 2018 Jul 14. pii: jmedgenet-2018-105328. doi: 10.1136/jmedgenet-2018-105328. [Epub ahead of print]

PMID:
30007940
6.

Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity.

Selvanayagam T, Walker S, Gazzellone MJ, Kellam B, Cytrynbaum C, Stavropoulos DJ, Li P, Birken CS, Hamilton J, Weksberg R, Scherer SW.

Eur J Hum Genet. 2018 Jul 5. doi: 10.1038/s41431-018-0189-0. [Epub ahead of print]

PMID:
29976977
7.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.

PMID:
29599419
8.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR.

Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16.

PMID:
29453418
9.

Reply to Brioude et al.

Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R.

Eur J Hum Genet. 2018 Apr;26(4):473-474. doi: 10.1038/s41431-017-0094-y. Epub 2018 Feb 15. No abstract available.

PMID:
29449717
10.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

11.

Compromised JMJD6 Histone Demethylase Activity Affects VHL Gene Repression in Preeclampsia.

Alahari S, Post M, Rolfo A, Weksberg R, Caniggia I.

J Clin Endocrinol Metab. 2018 Apr 1;103(4):1545-1557. doi: 10.1210/jc.2017-02197.

PMID:
29373688
12.

Characterizing neurocognitive late effects in childhood leukemia survivors using a combination of neuropsychological and cognitive neuroscience measures.

Van Der Plas E, Erdman L, Nieman BJ, Weksberg R, Butcher DT, O'connor DL, Aufreiter S, Hitzler J, Guger SL, Schachar RJ, Ito S, Spiegler BJ.

Child Neuropsychol. 2018 Nov;24(8):999-1014. doi: 10.1080/09297049.2017.1386170. Epub 2017 Oct 10.

PMID:
29017430
13.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.

14.

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.

Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R.

Eur J Hum Genet. 2017 Sep;25(9):1031-1039. doi: 10.1038/ejhg.2017.102. Epub 2017 Jul 12.

15.

Epigenetics of Autism Spectrum Disorder.

Siu MT, Weksberg R.

Adv Exp Med Biol. 2017;978:63-90. doi: 10.1007/978-3-319-53889-1_4. Review.

PMID:
28523541
16.

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R.

Am J Hum Genet. 2017 May 4;100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004.

17.

Does personal genome testing drive service utilization in an adult preventive medicine clinic?

Hoang N, Hayeems R, Davies J, Pu S, Wasim S, Velsher L, Aw J, Chénier S, Stavropoulos DJ, Babul-Hirji R, Weksberg R, Shuman C.

J Community Genet. 2017 Jul;8(3):151-158. doi: 10.1007/s12687-017-0297-5. Epub 2017 Apr 3.

18.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW.

Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6.

19.

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE.

Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033.

20.

An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.

Grafodatskaya D, Choufani S, Basran R, Weksberg R.

J Pediatr Genet. 2017 Mar;6(1):3-17. doi: 10.1055/s-0036-1593840. Epub 2016 Nov 10. Review.

21.

Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway.

Yeung KS, Chung BH, Choufani S, Mok MY, Wong WL, Mak CC, Yang W, Lee PP, Wong WH, Chen YA, Grafodatskaya D, Wong RW, Lau CS, Chan DT, Weksberg R, Lau YL.

PLoS One. 2017 Jan 13;12(1):e0169553. doi: 10.1371/journal.pone.0169553. eCollection 2017.

22.

Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.

Samuel N, Wilson G, Lemire M, Id Said B, Lou Y, Li W, Merino D, Novokmet A, Tran J, Nichols KE, Finlay JL, Choufani S, Remke M, Ramaswamy V, Cavalli FMG, Elser C, Meister L, Taylor MD, Tabori U, Irwin M, Weksberg R, Wasserman JD, Paterson AD, Hansford JR, Achatz MIW, Hudson TJ, Malkin D.

J Clin Oncol. 2016 Oct 20;34(30):3697-3704. doi: 10.1200/JCO.2016.67.6940.

PMID:
27551116
23.

Genome-wide characteristics of de novo mutations in autism.

Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW.

NPJ Genom Med. 2016 Aug 3;1:160271-1602710.

24.

Beckwith-Wiedemann Syndrome.

Shuman C, Beckwith JB, Weksberg R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Mar 3 [updated 2016 Aug 11].

25.

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.

Cytrynbaum C, Chong K, Hannig V, Choufani S, Shuman C, Steele L, Morgan T, Scherer SW, Stavropoulos DJ, Basran RK, Weksberg R.

Am J Med Genet A. 2016 Oct;170(10):2731-9. doi: 10.1002/ajmg.a.37819. Epub 2016 Jul 4.

PMID:
27374371
26.

Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction.

Roifman M, Choufani S, Turinsky AL, Drewlo S, Keating S, Brudno M, Kingdom J, Weksberg R.

Clin Epigenetics. 2016 Jun 21;8:70. doi: 10.1186/s13148-016-0238-x. eCollection 2016.

27.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T.

Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11.

28.

TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.

Chen J, Yao ZX, Chen JS, Gi YJ, Muñoz NM, Kundra S, Herlong HF, Jeong YS, Goltsov A, Ohshiro K, Mistry NA, Zhang J, Su X, Choufani S, Mitra A, Li S, Mishra B, White J, Rashid A, Wang AY, Javle M, Davila M, Michaely P, Weksberg R, Hofstetter WL, Finegold MJ, Shay JW, Machida K, Tsukamoto H, Mishra L.

J Clin Invest. 2016 Feb;126(2):527-42. doi: 10.1172/JCI80937. Epub 2016 Jan 19.

29.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.

NPJ Genom Med. 2016 Jan 13;1. pii: 15012. doi: 10.1038/npjgenmed.2015.12.

30.

NSD1 mutations generate a genome-wide DNA methylation signature.

Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, Reardon W, Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, Weksberg R.

Nat Commun. 2015 Dec 22;6:10207. doi: 10.1038/ncomms10207.

31.

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A.

Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6.

PMID:
26545172
32.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P.

Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Review.

33.

Neurocognitive Late Effects of Chemotherapy in Survivors of Acute Lymphoblastic Leukemia: Focus on Methotrexate.

van der Plas E, Nieman BJ, Butcher DT, Hitzler JK, Weksberg R, Ito S, Schachar R.

J Can Acad Child Adolesc Psychiatry. 2015 Winter;24(1):25-32. Epub 2015 Mar 4.

34.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D'Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA.

JAMA. 2015 Sep 1;314(9):895-903. doi: 10.1001/jama.2015.10078.

PMID:
26325558
35.

Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.

Morimoto M, Wang KJ, Yu Z, Gormley AK, Parham D, Bogdanovic R, Lücke T, Mayfield C, Weksberg R, Hendson G, Boerkoel CF.

Pediatr Res. 2015 Dec;78(6):609-17. doi: 10.1038/pr.2015.156. Epub 2015 Aug 26.

PMID:
26309238
36.

Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling.

Hayeems RZ, Babul-Hirji R, Hoang N, Weksberg R, Shuman C.

J Genet Couns. 2016 Apr;25(2):298-304. doi: 10.1007/s10897-015-9871-3. Epub 2015 Aug 12.

PMID:
26259530
37.

Clinically relevant copy number variations detected in cerebral palsy.

Oskoui M, Gazzellone MJ, Thiruvahindrapuram B, Zarrei M, Andersen J, Wei J, Wang Z, Wintle RF, Marshall CR, Cohn RD, Weksberg R, Stavropoulos DJ, Fehlings D, Shevell MI, Scherer SW.

Nat Commun. 2015 Aug 3;6:7949. doi: 10.1038/ncomms8949.

38.

Maternal vitamin D supplementation during pregnancy and lactation to promote infant growth in Dhaka, Bangladesh (MDIG trial): study protocol for a randomized controlled trial.

Roth DE, Gernand AD, Morris SK, Pezzack B, Islam MM, Dimitris MC, Shanta SS, Zlotkin SH, Willan AR, Ahmed T, Shah PS, Murphy KE, Weksberg R, Choufani S, Shah R, Al Mahmud A.

Trials. 2015 Jul 14;16:300. doi: 10.1186/s13063-015-0825-8.

39.

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.

Strong E, Butcher DT, Singhania R, Mervis CB, Morris CA, De Carvalho D, Weksberg R, Osborne LR.

Am J Hum Genet. 2015 Aug 6;97(2):216-27. doi: 10.1016/j.ajhg.2015.05.019. Epub 2015 Jul 9.

40.

An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome.

Shugar AL, Shapiro JM, Cytrynbaum C, Hedges S, Weksberg R, Fishman L.

Am J Med Genet A. 2015 Jul;167(7):1560-4. doi: 10.1002/ajmg.a.37064. Epub 2015 May 5.

PMID:
25944702
41.

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.

Fairbrother LC, Cytrynbaum C, Boutis P, Buiting K, Weksberg R, Williams C.

Am J Med Genet A. 2015 Jul;167(7):1565-9. doi: 10.1002/ajmg.a.37058. Epub 2015 Apr 21.

PMID:
25899869
42.

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC 3rd.

Epilepsia. 2015 May;56(5):707-16. doi: 10.1111/epi.12954. Epub 2015 Mar 25.

43.

Whole-genome sequencing of quartet families with autism spectrum disorder.

Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D'Abate L, Deneault E, Howe JL, Liu RS, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray PN, Weksberg R, Carter MT, Fernandez BA, Roberts W, Szatmari P, Scherer SW.

Nat Med. 2015 Feb;21(2):185-91. doi: 10.1038/nm.3792. Epub 2015 Jan 26.

PMID:
25621899
44.

Comparison of genome-wide and gene-specific DNA methylation between ART and naturally conceived pregnancies.

Melamed N, Choufani S, Wilkins-Haug LE, Koren G, Weksberg R.

Epigenetics. 2015;10(6):474-83. doi: 10.4161/15592294.2014.988041. Epub 2015 Jan 12.

45.

Biological and biochemical modulation of DNA methylation.

Lo R, Weksberg R.

Epigenomics. 2014;6(6):593-602. doi: 10.2217/epi.14.49. Review.

PMID:
25531254
46.

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.

Hayeems RZ, Hoang N, Chenier S, Stavropoulos DJ, Pu S, Weksberg R, Shuman C.

Eur J Hum Genet. 2015 Sep;23(9):1135-41. doi: 10.1038/ejhg.2014.260. Epub 2014 Dec 10.

47.

Molecular characterization of choroid plexus tumors reveals novel clinically relevant subgroups.

Merino DM, Shlien A, Villani A, Pienkowska M, Mack S, Ramaswamy V, Shih D, Tatevossian R, Novokmet A, Choufani S, Dvir R, Ben-Arush M, Harris BT, Hwang EI, Lulla R, Pfister SM, Achatz MI, Jabado N, Finlay JL, Weksberg R, Bouffet E, Hawkins C, Taylor MD, Tabori U, Ellison DW, Gilbertson RJ, Malkin D.

Clin Cancer Res. 2015 Jan 1;21(1):184-92. doi: 10.1158/1078-0432.CCR-14-1324. Epub 2014 Oct 21.

48.

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR.

Hum Mutat. 2014 Nov;35(11):1295-300. doi: 10.1002/humu.22683.

PMID:
25196122
49.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT.

Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14.

PMID:
25131214
50.

Role of STAT5 and epigenetics in lactation-associated upregulation of multidrug transporter ABCG2 in the mammary gland.

Wu AM, Yang M, Dalvi P, Turinsky AL, Wang W, Butcher D, Egan SE, Weksberg R, Harper PA, Ito S.

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