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Items: 1 to 50 of 233

1.

Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.

Pienkowska M, Choufani S, Turinsky AL, Guha T, Merino DM, Novokmet A, Brudno M, Weksberg R, Shlien A, Hawkins C, Bouffet E, Tabori U, Gilbertson RJ, Finlay JL, Jabado N, Thomas C, Sill M, Capper D, Hasselblatt M, Malkin D.

Clin Epigenetics. 2019 Oct 21;11(1):144. doi: 10.1186/s13148-019-0737-7.

2.

A large data resource of genomic copy number variation across neurodevelopmental disorders.

Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW.

NPJ Genom Med. 2019 Oct 7;4:26. doi: 10.1038/s41525-019-0098-3. eCollection 2019.

3.

DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.

Pienkowska M, Choufani S, Turinsky AL, Guha T, Merino DM, Novokmet A, Brudno M, Weksberg R, Shlien A, Hawkins C, Bouffet E, Tabori U, Gilbertson RJ, Finlay JL, Jabado N, Thomas C, Sill M, Capper D, Hasselblatt M, Malkin D.

Clin Epigenetics. 2019 Aug 13;11(1):117. doi: 10.1186/s13148-019-0708-z. Erratum in: Clin Epigenetics. 2019 Oct 21;11(1):144.

4.

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.

5.

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K.

Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9.

PMID:
31400068
6.

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.

Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R.

Clin Epigenetics. 2019 Jul 16;11(1):103. doi: 10.1186/s13148-019-0684-3.

7.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R.

BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y.

8.

An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor.

Cullinan N, Villani A, Mourad S, Somers GR, Reichman L, van Engelen K, Stephens D, Weksberg R, Foulkes WD, Malkin D, Grant R, Goudie C.

Int J Cancer. 2019 Jul 8. doi: 10.1002/ijc.32561. [Epub ahead of print]

PMID:
31286500
9.

Placental epigenetic clocks: estimating gestational age using placental DNA methylation levels.

Lee Y, Choufani S, Weksberg R, Wilson SL, Yuan V, Burt A, Marsit C, Lu AT, Ritz B, Bohlin J, Gjessing HK, Harris JR, Magnus P, Binder AM, Robinson WP, Jugessur A, Horvath S.

Aging (Albany NY). 2019 Jun 24;11(12):4238-4253. doi: 10.18632/aging.102049.

10.

Prenatal vitamin D and cord blood insulin-like growth factors in Dhaka, Bangladesh.

Bilic M, Qamar H, Onoyovwi A, Korsiak J, Papp E, Al Mahmud A, Weksberg R, Gernand AD, Harrington J, Roth DE.

Endocr Connect. 2019 May 1. pii: EC-19-0123.R1. doi: 10.1530/EC-19-0123. [Epub ahead of print]

11.

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.

Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC, Scherer SW.

NPJ Genom Med. 2019 Apr 26;4:9. doi: 10.1038/s41525-019-0083-x. eCollection 2019.

12.

Identifying new Wilms' tumour predisposition genes.

Weksberg R, Brzezinski J.

Lancet Child Adolesc Health. 2019 May;3(5):285-287. doi: 10.1016/S2352-4642(19)30064-1. Epub 2019 Mar 16. No abstract available.

13.

Don't brush off buccal data heterogeneity.

Turinsky AL, Butcher DT, Choufani S, Weksberg R, Brudno M.

Epigenetics. 2019 Feb;14(2):109-117. doi: 10.1080/15592294.2019.1581592. Epub 2019 Mar 1.

PMID:
30821575
14.

Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus.

Yeung KS, Lee TL, Mok MY, Mak CCY, Yang W, Chong PCY, Lee PPW, Ho MHK, Choufani S, Lau CS, Lau YL, Weksberg R, Chung BHY.

Epigenetics. 2019 Apr;14(4):341-351. doi: 10.1080/15592294.2019.1585176. Epub 2019 Mar 16.

PMID:
30806140
15.

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; 3D cohort study group.

Hum Mol Genet. 2019 Feb 1;28(3):372-385. doi: 10.1093/hmg/ddy321.

PMID:
30239726
16.

DNA Methylation Reduces the Yes-Associated Protein 1/WW Domain Containing Transcription Regulator 1 Pathway and Prevents 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 Oct;188(10):2177-2194. doi: 10.1016/j.ajpath.2018.06.024. Epub 2018 Aug 17.

PMID:
30121256
17.

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.

18.

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 C, 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 Dec 1;24(23):6040-6052. doi: 10.1158/1078-0432.CCR-18-0551. Epub 2018 Jul 27.

PMID:
30054283
19.

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 Dec;55(12):847-852. doi: 10.1136/jmedgenet-2018-105328. Epub 2018 Jul 14.

PMID:
30007940
20.

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 Nov;26(11):1588-1596. doi: 10.1038/s41431-018-0189-0. Epub 2018 Jul 5.

21.

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
22.

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.

23.

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.

24.

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.

25.

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
26.

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
27.

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.

28.

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.

29.

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
30.

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.

31.

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.

32.

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.

33.

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.

34.

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.

35.

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.

36.

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.

37.

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.

38.

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; 1993-2019.
2000 Mar 3 [updated 2016 Aug 11].

39.

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
40.

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.

41.

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.

42.

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.

43.

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.

44.

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.

45.

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
46.

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.

47.

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.

48.

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

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