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Items: 39


Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT.

JIMD Rep. 2019 Mar 14;46(1):63-69. doi: 10.1002/jmd2.12018. eCollection 2019 Mar.


Correction: Variant classification changes over time in BRCA1 and BRCA2.

Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J.

Genet Med. 2019 May 2. doi: 10.1038/s41436-019-0526-x. [Epub ahead of print]


Variant classification changes over time in BRCA1 and BRCA2.

Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J.

Genet Med. 2019 Apr 11. doi: 10.1038/s41436-019-0493-2. [Epub ahead of print] Erratum in: Genet Med. 2019 May 2;:.


Development of patient "profiles" to tailor counseling for incidental genomic sequencing results.

Mighton C, Carlsson L, Clausen M, Casalino S, Shickh S, McCuaig L, Joshi E, Panchal S, Graham T, Aronson M, Piccinin C, Winter-Paquette L, Semotiuk K, Lorentz J, Mancuso T, Ott K, Silberman Y, Elser C, Eisen A, Kim RH, Lerner-Ellis J, Carroll JC, Glogowski E, Schrader K, Bombard Y; Incidental Genomics Study Team.

Eur J Hum Genet. 2019 Jul;27(7):1008-1017. doi: 10.1038/s41431-019-0352-2. Epub 2019 Mar 8.


Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.

Metcalfe K, Lynch HT, Foulkes WD, Tung N, Olopade OI, Eisen A, Lerner-Ellis J, Snyder C, Kim SJ, Sun P, Narod SA.

Br J Cancer. 2019 Feb;120(4):398-403. doi: 10.1038/s41416-019-0376-y. Epub 2019 Feb 6.


Reply to 'Mutations in RECQL are not associated with breast cancer risk in an Australian population'.

Ahmed H, Lerner-Ellis J, Cybulski C, Metcalfe K, Lubiński J, Narod SA, Akbari MR.

Nat Genet. 2018 Oct;50(10):1348-1349. doi: 10.1038/s41588-018-0233-6. No abstract available.


Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol.

Dossa F, Cusimano MC, Sutradhar R, Metcalfe K, Little T, Lerner-Ellis J, Eisen A, Meschino WS, Baxter NN.

BMJ Open. 2018 Sep 4;8(9):e025317. doi: 10.1136/bmjopen-2018-025317.


The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results.

Bombard Y, Clausen M, Mighton C, Carlsson L, Casalino S, Glogowski E, Schrader K, Evans M, Scheer A, Baxter N, Hamilton JG, Lerner-Ellis J, Offit K, Robson M, Laupacis A.

Eur J Hum Genet. 2018 Jul;26(7):984-995. doi: 10.1038/s41431-018-0144-0. Epub 2018 Apr 27.


Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.

Shickh S, Clausen M, Mighton C, Casalino S, Joshi E, Glogowski E, Schrader KA, Scheer A, Elser C, Panchal S, Eisen A, Graham T, Aronson M, Semotiuk KM, Winter-Paquette L, Evans M, Lerner-Ellis J, Carroll JC, Hamilton JG, Offit K, Robson M, Thorpe KE, Laupacis A, Bombard Y.

BMJ Open. 2018 Apr 26;8(4):e021876. doi: 10.1136/bmjopen-2018-021876.


Characteristics of Adrenal Masses in Familial Adenomatous Polyposis.

Shiroky JS, Lerner-Ellis JP, Govindarajan A, Urbach DR, Devon KM.

Dis Colon Rectum. 2018 Jun;61(6):679-685. doi: 10.1097/DCR.0000000000001008.


Molecular-based classification algorithm for endometrial carcinoma categorizes ovarian endometrioid carcinoma into prognostically significant groups.

Parra-Herran C, Lerner-Ellis J, Xu B, Khalouei S, Bassiouny D, Cesari M, Ismiil N, Nofech-Mozes S.

Mod Pathol. 2017 Dec;30(12):1748-1759. doi: 10.1038/modpathol.2017.81. Epub 2017 Aug 4.


Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group.

Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20.


A high frequency of PALB2 mutations in Jamaican patients with breast cancer.

Lerner-Ellis J, Donenberg T, Ahmed H, George S, Wharfe G, Chin S, Lowe D, Royer R, Zhang S, Narod S, Hurley J, Akbari MR.

Breast Cancer Res Treat. 2017 Apr;162(3):591-596. doi: 10.1007/s10549-017-4148-1. Epub 2017 Feb 13.


Genetic testing for Lynch syndrome in the province of Ontario.

Wang M, Aldubayan S, Connor AA, Wong B, Mcnamara K, Khan T, Semotiuk K, Khalouei S, Holter S, Aronson M, Cohen Z, Gallinger S, Charames G, Pollett A, Lerner-Ellis J.

Cancer. 2016 Jun 1;122(11):1672-9. doi: 10.1002/cncr.29950. Epub 2016 Mar 28.


Genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.

Lerner-Ellis J, Khalouei S, Sopik V, Narod SA.

Expert Rev Anticancer Ther. 2015;15(11):1315-26. doi: 10.1586/14737140.2015.1090879. Epub 2015 Nov 2. Review.


Is it time to offer BRCA1 and BRCA2 testing to all Jewish women?

Metcalfe KA, Eisen A, Lerner-Ellis J, Narod SA.

Curr Oncol. 2015 Aug;22(4):e233-6. doi: 10.3747/co.22.2527. No abstract available.


Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.

Finch A, Wang M, Fine A, Atri L, Khalouei S, Pupavac M, Rosen B, Eisen A, Elser C, Charames G, Metcalfe K, Chang MC, Narod SA, Lerner-Ellis J.

Clin Genet. 2016 Mar;89(3):304-11. doi: 10.1111/cge.12647. Epub 2015 Aug 31.


Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.

Lerner-Ellis J, Wang M, White S, Lebo MS; Canadian Open Genetics Repository Group.

J Med Genet. 2015 Jul;52(7):438-45. doi: 10.1136/jmedgenet-2014-102933. Epub 2015 Apr 22.


Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.

Shlien A, Campbell BB, de Borja R, Alexandrov LB, Merico D, Wedge D, Van Loo P, Tarpey PS, Coupland P, Behjati S, Pollett A, Lipman T, Heidari A, Deshmukh S, Avitzur N, Meier B, Gerstung M, Hong Y, Merino DM, Ramakrishna M, Remke M, Arnold R, Panigrahi GB, Thakkar NP, Hodel KP, Henninger EE, Göksenin AY, Bakry D, Charames GS, Druker H, Lerner-Ellis J, Mistry M, Dvir R, Grant R, Elhasid R, Farah R, Taylor GP, Nathan PC, Alexander S, Ben-Shachar S, Ling SC, Gallinger S, Constantini S, Dirks P, Huang A, Scherer SW, Grundy RG, Durno C, Aronson M, Gartner A, Meyn MS, Taylor MD, Pursell ZF, Pearson CE, Malkin D, Futreal PA, Stratton MR, Bouffet E, Hawkins C, Campbell PJ, Tabori U; Biallelic Mismatch Repair Deficiency Consortium.

Nat Genet. 2015 Mar;47(3):257-62. doi: 10.1038/ng.3202. Epub 2015 Feb 2.


Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Grant RC, Selander I, Connor AA, Selvarajah S, Borgida A, Briollais L, Petersen GM, Lerner-Ellis J, Holter S, Gallinger S.

Gastroenterology. 2015 Mar;148(3):556-64. doi: 10.1053/j.gastro.2014.11.042. Epub 2014 Dec 2.


Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.

Connor AA, Katzov-Eckert H, Whelan T, Aronson M, Lau L, Marshall C, Charames GS, Pollett A, Gallinger S, Lerner-Ellis J.

Fam Cancer. 2015 Mar;14(1):69-75. doi: 10.1007/s10689-014-9765-9.


Ethics and genomic medicine, how to navigate decisions in surgical oncology.

Devon KM, Lerner-Ellis JP, Ganai S, Angelos P.

J Surg Oncol. 2015 Jan;111(1):18-23. doi: 10.1002/jso.23771. Epub 2014 Sep 2. Review.


Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing.

Ferguson SE, Aronson M, Pollett A, Eiriksson LR, Oza AM, Gallinger S, Lerner-Ellis J, Alvandi Z, Bernardini MQ, MacKay HJ, Mojtahedi G, Tone AA, Massey C, Clarke BA.

Cancer. 2014 Dec 15;120(24):3932-9. doi: 10.1002/cncr.28933. Epub 2014 Jul 31.


The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

Lerner-Ellis JP, Aldubayan SH, Hernandez AL, Kelly MA, Stuenkel AJ, Walsh J, Joshi VA.

Mol Genet Metab. 2014 Jun;112(2):171-6. doi: 10.1016/j.ymgme.2014.03.011. Epub 2014 Apr 2.


Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Bakry D, Aronson M, Durno C, Rimawi H, Farah R, Alharbi QK, Alharbi M, Shamvil A, Ben-Shachar S, Mistry M, Constantini S, Dvir R, Qaddoumi I, Gallinger S, Lerner-Ellis J, Pollett A, Stephens D, Kelies S, Chao E, Malkin D, Bouffet E, Hawkins C, Tabori U.

Eur J Cancer. 2014 Mar;50(5):987-96. doi: 10.1016/j.ejca.2013.12.005. Epub 2014 Jan 15.


Preventing ovarian cancer through genetic testing: a population-based study.

Finch A, Bacopulos S, Rosen B, Fan I, Bradley L, Risch H, McLaughlin JR, Lerner-Ellis J, Narod SA.

Clin Genet. 2014 Nov;86(5):496-9. doi: 10.1111/cge.12313. Epub 2013 Dec 4.


The clinical implementation of whole genome sequencing: a conversation with seven scientific experts.

Lerner-Ellis JP.

J Inherit Metab Dis. 2012 Jul;35(4):689-93. doi: 10.1007/s10545-012-9463-4. Epub 2012 Mar 9.


Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, LeVan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH.

J Mol Diagn. 2010 Nov;12(6):818-27. doi: 10.2353/jmoldx.2010.100014. Epub 2010 Sep 23.


Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B.

Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001.


Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

Loewy AD, Niles KM, Anastasio N, Watkins D, Lavoie J, Lerner-Ellis JP, Pastinen T, Trasler JM, Rosenblatt DS.

Mol Genet Metab. 2009 Apr;96(4):261-7. doi: 10.1016/j.ymgme.2008.12.011. Epub 2009 Feb 5.


Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B.

N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200.


Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA.

Am J Med Genet A. 2007 Oct 15;143A(20):2430-4.


Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Morel CF, Lerner-Ellis JP, Rosenblatt DS.

Mol Genet Metab. 2006 Aug;88(4):315-21. Epub 2006 May 22.


Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.

Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA.

Mol Genet Metab. 2006 Aug;88(4):327-33. Epub 2006 May 11.


Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.

Zhang J, Dobson CM, Wu X, Lerner-Ellis J, Rosenblatt DS, Gravel RA.

Mol Genet Metab. 2006 Apr;87(4):315-22. Epub 2006 Jan 24.


Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS.

Mol Genet Metab. 2006 Mar;87(3):219-25. Epub 2006 Jan 10.


Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS.

Nat Genet. 2006 Jan;38(1):93-100. Epub 2005 Nov 27. Erratum in: Nat Genet. 2006 Aug;38(8):957.


Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS.

Hum Mutat. 2004 Dec;24(6):509-16. Erratum in: Hum Mutat. 2005 Mar;25(3):317.


Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA.

Hum Mol Genet. 2002 Dec 15;11(26):3361-9.


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