The Molecular Diagnostic Laboratory endeavours to provide a fertile environment for engaging acedemic investigation on many different fronts. We provide training for Medical residents through our affiliation with the University of Western Ontario, Laboratory technologists through the Michener Institue for Applied Sciences, as well as opportunities for undergraduate students such as 483 projects (University of Western Ontario) and CO-OP students from area high schools. In addition we make a practice of providing summer placements for students to experience and explore the world of Molecular Diagnostics.

Shireen Fard and Cara Reith stand with their poster summarizing their research into developing a method for screening the BRCA1 gene for genomic deletions. The poster titled "Identification of large scale deletions or other gene rearrangement in the BRCA1 gene by VNTR analysis coupled with long range PCR" was presented at the American Society of Human Genetics conference in Baltimore.

63. Baker SK, Reith CC, Ainsworth PJ.
Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
Muscle Nerve. 2008 Nov;38(5):1510-4.

62. Eisen A, Lubinski J, Gronwald J, Moller P, Lynch HT, Klijn J, Kim-Sing C, Neuhausen SL, Gilbert L, Ghadirian P, Manoukian S, Rennert G, Friedman E, Isaacs C, Rosen E, Rosen B, Daly M, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers.
J Natl Cancer Inst. 2008 Oct 1;100(19):1361-7. Epub 2008 Sep 23.

61 Beaton MD, Taylor B, Driman D, Ainsworth P, Adams PC.
Abstract
Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation?
Can J Gastroenterol. 2008 Jul;22(7):634-6.

60. Narod SA, Neuhausen S, Vichodez G, Armel S, Lynch HT, Ghadirian P, Cummings S, Olopade O, Stoppa-Lyonnet D, Couch F, Wagner T, Warner E, Foulkes WD, Saal H, Weitzel J, Tulman A, Poll A, Nam R, Sun P; Hereditary Breast Cancer Study Group, Danquah J, Domchek S, Tung N, Ainsworth P, Horsman D, Kim-Sing C, Maugard C, Eisen A, Daly M, McKinnon W, Wood M, Isaacs C, Gilchrist D, Karlan B, Nedelcu R, Meschino W, Garber J, Pasini B, Manoukian S, Bellati C.
Rapid progression of prostate cancer in men with a BRCA2 mutation.
Br J Cancer. 2008 Jul 22;99(2):371-4. Epub 2008 Jun 24.

59. Kotsopoulos J, Librach CL, Lubinski J, Gronwald J, Kim-Sing C, Ghadirian P, Lynch HT, Moller P, Foulkes WD, Randall S, Manoukian S, Pasini B, Tung N, Ainsworth PJ, Cummings S, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study.
Cancer Causes Control. 2008 May 29. [Epub ahead of print]

58. Metcalfe KA, Foulkes WD, Kim-Sing C, Ainsworth P, Rosen B, Armel S, Poll A, Eisen A, Gilchrist D, Chudley A, Ghadirian P, Maugard C, Lemire EG, Sun P, Narod SA.
Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation.
Clin Genet. 2008 May;73(5):474-9. Epub 2008 Mar 12. Review.

57. Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Moller P, Ghadirian P, Foulkes WD, Klijn J, Friedman E, Kim-Sing C, Ainsworth P, Rosen B, Domchek S, Wagner T, Tung N, Manoukian S, Couch F, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.
Int J Cancer. 2008 May 1;122(9):2017-22.

56. Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, Foulkes WD, Domchek S, Ainsworth P, Isaacs C, Tung N, Gronwald J, Cummings S, Wagner T, Manoukian S, Møller P, Weitzel J, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group.
J Clin Oncol. 2008 Mar 1;26(7):1093-7. Epub 2008 Jan 14.

55. Kwon JS, Lenehan J, Carey M, Ainsworth P.
Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series.
Int J Gynecol Cancer. 2007 Jul 21; [Epub ahead of print]

54. Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF.
CMT1X phenotypes represent loss of GJB1 gene function.
Neurology. 2007 Mar 13;68(11):849-55.

53. Kotsopoulos J, Lubinski J, Lynch HT, Klijn J, Ghadirian P, Neuhausen SL, Kim-Sing C, Foulkes WD, Moller P, Isaacs C, Domchek S, Randall S, Offit K, Tung N, Ainsworth P, Gershoni-Baruch R, Eisen A, Daly M, Karlan B, Saal HM, Couch F, Pasini B, Wagner T, Friedman E, Rennert G, Eng C, Weitzel J, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group, Garber J, Osborne M, Fishman D, McLennan J, McKinnon W, Merajver S, Olsson H, Provencher D, Pasche B, Evans G, Meschino WS, Lemire E, Chudley A, Rayson D, Bellati C.
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat. 2007 Oct;105(2):221-8. Epub 2007 Jan 24.

52. Temple CL, Snell LJ, Power SM, Parfitt JR, Scilley C, Engel CJ, Shum D, Chakrabarti S, Joseph MG, Lohmann RC, Ainsworth P.
Clinical significance of the RT-PCR positive sentinel node in melanoma.
J Surg Oncol. 2007 Jun 1;95(7):546-54.

51. Temple CL, Snell LJ, Power SM, Parfitt JR, Scilley C, Engel CJ, Shum D, Chakrabarti S, Joseph MG, Lohmann RC, Ainsworth P.
Clinical significance of the RT-PCR positive sentinel node in melanoma.
J Surg Oncol. (2007) 95:546-554

50: Kotsopoulos J, Chen Z, Vallis KA, Poll A, Ainsworth P, Narod SA.
DNA repair capacity as a possible biomarker of breast cancer risk in female BRCA1 mutation carriers.
Br J Cancer. 2007 Jan 15;96(1):118-125.

49. Ainsworth P.
A burning desire to understand genetic mutations in gastroenterology.
Can J Gastroenterol. 2006 Oct;20(10):629-30

48. Finch A, Beiner M, Lubinski J, Lynch HT, Moller P, Rosen B, Murphy J, Ghadirian P, Friedman E, Foulkes WD, Kim-Sing C, Wagner T, Tung N, Couch F, Stoppa-Lyonnet D, Ainsworth P, Daly M, Pasini B, Gershoni-Baruch R, Eng C, Olopade OI, McLennan J, Karlan B, Weitzel J, Sun P, Narod SA; Hereditary Ovarian Cancer Clinical Study Group. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.
JAMA. 2006 Jul 12;296(2):185-92.

47. Friedman E, Kotsopoulos J, Lubinski J, Lynch HT, Ghadirian P, Neuhausen SL, Isaacs C, Weber B, Foulkes WD, Moller P, Rosen B, Kim-Sing C, Gershoni-Baruch R, Ainsworth P, Daly M, Tung N, Eisen A, Olopade OI, Karlan B, Saal HM, Garber JE, Rennert G, Gilchrist D, Eng C, Offit K, Osborne M, Sun P, Narod SA; the Hereditary Breast Cancer Clinical Study Group.
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.
Breast Cancer Res. 2006 Mar 21;8(2):R15 [Epub ahead of print]

46: Gronwald J, Tung N, Foulkes WD, Offit K, Gershoni R, Daly M, Kim-Sing C, Olsson H, Ainsworth P, Eisen A, Saal H, Friedman E, Olopade O, Osborne M, Weitzel J, Lynch H, Ghadirian P, Lubinski J, Sun P, Narod SA.
Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update.
Int J Cancer. 2005 Dec 5;118(9):2281-2284 [Epub ahead of print]

45: Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, Weber B, Rebbeck T, Neuhausen SL, Ghadirian P, Foulkes WD, Gershoni-Baruch R, Friedman E, Rennert G, Wagner T, Isaacs C, Kim-Sing C, Ainsworth P, Sun P, Narod SA.
Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.

44. Friedman E, Kotsopoulos J, Lubinski J, Lynch HT, Ghadirian P, Neuhausen SL, Isaacs C, Weber B, Foulkes WD, Moller P, Rosen B, Kim-Sing C, Gershoni-Baruch R, Ainsworth P, Daly M, Tung N, Eisen A, Olopade OI, Karlan B, Saal HM, Garber JE, Rennert G, Gilchrist D, Eng C, Offit K, Osborne M, Sun P, Narod SA; the Hereditary Breast Cancer Clinical Study Group.
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.
Breast Cancer Res. 2006 Mar 21;8(2):R15 [Epub ahead of print]

43. Gronwald J, Tung N, Foulkes WD, Offit K, Gershoni R, Daly M, Kim-Sing C, Olsson H, Ainsworth P, Eisen A, Saal H, Friedman E, Olopade O, Osborne M, Weitzel J, Lynch H, Ghadirian P, Lubinski J, Sun P, Narod SA.
Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update.
Int J Cancer. 2005 Dec 5;118(9):2281-2284 [Epub ahead of print]

42. Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, Weber B, Rebbeck T, Neuhausen SL, Ghadirian P, Foulkes WD, Gershoni-Baruch R, Friedman E, Rennert G, Wagner T, Isaacs C, Kim-Sing C, Ainsworth P, Sun P, Narod SA.
Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.
J Clin Oncol. 2005 Oct 20;23(30):7491-6.

41. Kotsopoulos J, Olopado OI, Ghadirian P, Lubinski J, Lynch HT, Isaacs C, Weber B, Kim-Sing C, Ainsworth P, Foulkes WD, Eisen A, Sun P, Narod SA.
Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res. 2005;7(5):R833-43. Epub 2005 Aug 19.

40. Kotsopoulos J, Lubinski J, Neuhausen SL, Lynch HT, Rosen B, Ainsworth P, Moller P, Ghadirian P, Isaacs C, Karlan B, Sun P, Narod SA.
Hormone replacement therapy and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Gynecol Oncol. 2006 Jan;100(1):83-8. Epub 2005 Aug 31.

39. Nkondjock A, Ghadirian P, Kotsopoulos J, Lubinski J, Lynch H, Kim-Sing C, Horsman D, Rosen B, Isaacs C, Weber B, Foulkes W, Ainsworth P, Tung N, Eisen A, Friedman E, Eng C, Sun P, Narod SA.
Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers.
Int J Cancer. 2006 Jan 1;118(1):103-7.

38. Kotsopoulos J, Lubinski J, Lynch HT, Neuhausen SL, Ghadirian P, Isaacs C, Weber B, Kim-Sing C, Foulkes WD, Gershoni-Baruch R, Ainsworth P, Friedman E, Daly M, Garber JE, Karlan B, Olopade OI, Tung N, Saal HM, Eisen A, Osborne M, Olsson H, Gilchrist D, Sun P, Narod SA.
Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation
carriers.
Cancer Causes Control. 2005 Aug;16(6):667-674.

37. Cullinane CA, Lubinski J, Neuhausen SL, Ghadirian P, Lynch HT, Isaacs C, Weber B, Moller P, Offit K, Kim-Sing C, Friedman E, Randall S, Pasini B, Ainsworth P, Gershoni-Baruch R, Foulkes WD, Klijn J, Tung N, Rennert G, Olopade O, Couch F, Wagner T, Olsson H, Sun P, Weitzel JN, Narod SA.
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.
Int J Cancer. 2005 Jun 28; [Epub ahead of print]

36. Vanhorne JB, Andrew SD, Harrison KJ, Taylor SA, Thomas B, McDonald TJ, Ainsworth PJ, Mulligan LM.
A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2.
Oncogene. 2005 Feb 3;24(6):1091-7.

35. Ainsworth PJ, Koscinski D, Fraser BP, Stuart JA.
Family cancer histories predictive of a high risk of hereditary non-polyposis colorectal cancer associate significantly with a genomic rearrangement in hMSH2 or hMLH1.
Clin Genet. 2004 Sep;66(3):183-8.

34. Jernstrom H, Lubinski J, Lynch HT, Ghadirian P, Neuhausen S, Isaacs C, Weber BL, Horsman D, Rosen B, Foulkes WD, Friedman E, Gershoni-Baruch R, Ainsworth P, Daly M, Garber J, Olsson H, Sun P, Narod SA.
Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
J Natl Cancer Inst. 2004 Jul 21;96(14):1094-8.

33. Ghadirian P, Lubinski J, Lynch H, Neuhausen SL, Weber B, Isaacs C, Baruch RG, Randall S, Ainsworth P, Friedman E, Horsman D, Tonin P, Foulkes WD, Tung N, Sun P, Narod SA.
Smoking and the risk of breast cancer among carriers of BRCA mutations.
Int J Cancer. 2004 Jun 20;110(3):413-6. Erratum in: Int J Cancer. 2005 May
10;114(6):1016. Freidman, Eitan [corrected to Friedman, Eitan].

32. Mulligan L, Taylor S, Harrison, Ainsworth PJ, McDonald T and Thomas B(2004) A model for GFRa4 function and a potential modifying role in multiple endocrine neoplasia 2:; accepted for publication in Oncogene Sept. 2004.

31. Speevak MD, Young SS, Feilotter H, Ainsworth P.
Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon.
Eur J Hum Genet. 2003 Dec;11(12):951-4.

30. Ozcelik H, Knight JA, Glendon G, Yazici H, Carson N, Ainsworth PJ, Taylor SA, Feilotter H, Carter RF, Boyd NF, Andrulis IL; Ontario Cancer Genetics Network.
Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative
Family Registry for Breast Cancer Studies.
J Med Genet. 2003 Aug;40(8):e91. No abstract available.

29. Narod SA, Dube MP, Klijn J, Lubinski J, Lynch HT, Ghadirian P, Provencher D, Heimdal K, Moller P, Robson M, Offit K, Isaacs C, Weber B, Friedman E, Gershoni-Baruch R, Rennert G, Pasini B, Wagner T, Daly M, Garber JE, Neuhausen SL, Ainsworth P, Olsson H, Evans G, Osborne M, Couch F, Foulkes WD, Warner E,Kim-Sing C, Olopade O, Tung N, Saal HM, Weitzel J, Merajver S, Gauthier-Villars M, Jernstrom H, Sun P, Brunet JS.
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
J Natl Cancer Inst. 2002 Dec 4;94(23):1773-9.

28. Haines TR, Rodenhiser DI, Ainsworth PJ.
Allele-specific non-CpG methylation of the Nf1 gene during early mouse
development.
Dev Biol. 2001 Dec 15;240(2):585-98.

27. Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM.
Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis.
Acta Neuropathol (Berl). 2001 Feb;101(2):129-39.

26. Hahn AF, Ainsworth PJ, Naus CC, Mao J, Bolton CF.
Clinical and pathological observations in men lacking the gap junction protein connexin 32.
Muscle Nerve Suppl. 2000;9:S39-48.

25. Feldman GL, Edmonds MW, Ainsworth PJ, Schuffenecker I, Lenoir GM, Saxe AW, Talpos GB, Roberson J, Petrucelli N, Jackson CE.
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation.
Surgery. 2000 Jul;128(1):93-8.

24. Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CC, Ainsworth PJ.
Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth
disease.
Ann N Y Acad Sci. 1999 Sep 14;883:366-82.

23. Kovacs MJ, Keeney M, MacKinnon K, Wong, L, Cruickshank MK, Boyle, E Ainsworth P. (1999) Assessment of activiated protein C resistance and factor V Leiden in patients with thrombosis and cancer.
Laboratory Haematology 5: 70-73.

22. Ainsworth PJ, Bolton CF, Murphy BC, Stuart JA, Hahn AF.
Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.
Hum Genet. 1998 Aug;103(2):242-4."

21. Mancini DN, Rodenhiser DI, Ainsworth PJ, O'Malley FP, Singh SM, Xing W,
Archer TK.
CpG methylation within the 5' regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site.
Oncogene. 1998 Mar 5;16(9):1161-9.

20. Mancini D, Singh S, Ainsworth P, Rodenhiser D.
Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1).
Am J Hum Genet. 1997 Jul;61(1):80-7.

19. Sharma V, Ainsworth PJ, McCabe SB, Persad E, Kueneman KM.
A nongenetic basis of cycle frequency in bipolar disorder: study of a monozygotic twin pair.
J Psychiatry Neurosci. 1997 Mar;22(2):132-5.

18. Rodenhiser DI, Jung JH, Gillett JM, Hovland K, Andrews J, Ainsworth PJ, Coulter-Mackie M, Singh SM.
A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis (NF1) exon 39.
Hum Mutat. 1997;9(5):473. No abstract available.

17. Ainsworth PJ, Chakraborty PK, Weksberg R.
Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.
Hum Mutat. 1997;9(5):452-7.

16. Lazaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivill X.
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.
Hum Genet. 1996 Dec;98(6):696-9.

15. O'Malley FP, Saad Z, Kerkvliet N, Doig G, Stitt L, Ainsworth P, Hundal H, Chambers AF, Turnbull DI, Bramwell V.
The predictive power of semiquantitative immunohistochemical assessment of p53 and c-erb B-2 in lymph node-negative breast cancer.
Hum Pathol. 1996 Sep;27(9):955-63.

14. Rodenhiser D, Chakraborty P, Andrews J, Ainsworth P, Mancini D, Lopes E, Singh S.
Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs.
Oncogene. 1996 Jun 20;12(12):2623-9.

13. Tan CC, Ainsworth PJ, Hahn AF, MacLeod PM.
Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
Hum Mutat. 1996;7(2):167-71. No abstract available.

12. Eng B, Ainsworth P, Waye JS.
Anomalous migration of PCR products using nondenaturing polyacrylamide gel electrophoresis: the amelogenin sex-typing system.
J Forensic Sci. 1994 Nov;39(6):1356-9.

11. Ainsworth P, Rodenhiser D, Stuart A, Jung J.
Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene.
Hum Mol Genet. 1994 Jul;3(7):1179-81. No abstract available.

10. Bleyl S, Ainsworth P, Nelson L, Viskochil D, Ward K.
An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene.
Hum Mol Genet. 1994 Mar;3(3):517-8. No abstract available.

9. Rodenhiser DI, Ainsworth PJ, Coulter-Mackie MB, Singh SM, Jung JH.
A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.
J Med Genet. 1993 May;30(5):363-8.

8. Ainsworth PJ, Rodenhiser DI, Costa MT.
Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.
Hum Genet. 1993 Mar;91(2):151-6.

7. Ainsworth PJ, Coulter-Mackie MB.
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
Am J Hum Genet. 1992 Oct;51(4):802-9.

6. Ainsworth PJ, Rodenhiser DI.
Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I.
Am J Hum Genet. 1991 Nov;49(5):1098-9. No abstract available.

5. Ainsworth PJ, Surh LC, Coulter-Mackie MB.
Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant.
Nucleic Acids Res. 1991 Jan 25;19(2):405-6. No abstract available.

4. Ainsworth PJ, Ball AJ, Tustanoff ER.
Cyanide-resistant respiration in yeast. II. Characterization of a cyanide-insensitive NAD(P)H oxidoreductase.
Arch Biochem Biophys. 1980 Jun;202(1):187-200. No abstract available.

3. Ainsworth PJ, Channon M, Sridhar R, Gushulak B, Tustanoff ER.
Effect of radiosensitizing agents on electron transport systems.
Can J Biochem. 1978 Jun;56(6):457-61.

2. Ainsworth PJ, Tustanoff ER, Ball AJ.
Membrane phase (transitions) as a diagnostic tool for studying mitochondriogenesis.
Biochem Biophys Res Commun. 1972 Jun 28;47(6):1299-305. No abstract available.

1. Ainsworth PJ, Coleman G.
Comparison of galactokinase induction in protoplasts and intact bacteria of Bacillus megaterium 216.
J Gen Microbiol. 1970 Oct;63(2):227-35. No abstract available.

Book Chapters:

Peter J. Ainsworth, and David I. Rodenhiser. (1994) A Nonradioactive Method for the Detection of Single-Strand Conformational Polymorphisms (SCP). Methods in Molecular Biology, "Protocols for Gene Analysis" vol 31, chapter 19, p 205-210. Ed. A.J. Harwood. Humana Press Inc.

Singh SM, Rodenhiser DI, Ott R, Jung JH, and Ainsworth P.J. (1995) Strategies and applications of DNA level diagnosis in genetic diseases: past experiences and future directions. in press Ann. Rev. Biotechnology

Abstracts (1990-2006):

Ainsworth P.J. and Coulter-Mackie M.B. (1990) A novel mutation in the gene coding for the alpha subunit of beta-N-acetylhexosaminidase associated with the B1 variant of Tay Sachs disease. Am J Hum Genet 47:(suppl.) Abstr #0810.

Ainsworth P.J. and Coulter-Mackie M.B. (1991) Two linked point mutations in the gene coding for the alpha subunit of beta-N-acetylhexosaminidase associated with the B1 variant of Tay Sachs disease. Fifth Rossiter Research Conference.

Rodenhiser D.I., Ainsworth P.J., Coulter-Mackie M.B., Singh S.M., and Jung J.H. (1992) Molecular diagnosis, prenatal diagnosis and mutational screening of NF1patients in Ontario, Canada. Proc of the NF Clinical Care Symposium, Neurofibromatosis Res. Newsletter

Ainsworth P.J., Rodenhiser D.I., Coulter-Mackie M.B., Singh S.M., and Jung J.H. (1992) PCR-based molecular diagnosis and prenatal diagnosis of Neurofibromatosis type 1 (NF1) using informative linked markers. Am J Hum Genet 51(4):(suppl), Abstr #1481

Ouellette Y., Ainsworth P.J. and Rodenhiser D.I. (1992) Identification of mutations in the Neurofibromatosis type 1 (NF1) gene using single strand conformational polymorphism (SSCP) analysis and direct sequencing of PCR product. Am J Hum Genet 51(4):(suppl), Abstr. #1295

Teresa Costa, Jennifer MacKenzie, David Rodenhiser, and Peter Ainsworth. (1993) Watson synDr.ome associated with a deletion at the NF1 locus. Am J Hum Genet 53(3):(suppl), Abstr #419

Teresa Costa, Jennifer MacKenzie, David Rodenhiser, and Peter Ainsworth. (1993) Watson synDr.ome associated with a deletion at the NF1 locus. DW Smith Symposium on Malformations and Morhogenesis.

MB Coulter-Mackie and PJ Ainsworth. Evidence for recombination events during cDNA synthesis of the alpha subunit of beta - hexosaminidase A. (1993) Am J Hum Genet 53(3):(suppl) Abstr #897

Ainsworth P.J. and Rodenhiser D.I. Detection of Neurofibromatosis type 1 (NF1) gene deletions by hemizygosity at intragenic microsatellite markers. (1993) Am J Hum Genet 53(3):(suppl) Abstr #1114

L. Suhr, R. Brinkman, A. Kasabowski, P. Ainsworth, J. Buchanan, P. Ray, S. Taylor, J. Waye. Evaluating workload of molecular diagnostic services. (June, 1994) International Society of Health Technology Assessment (ISTHAC) 10th Annual mtg.

P.J. Ainsworth and C. Tan, A rapid screen of the most common RET mutation associated with MEN2A. (1994) Am J Hum Genet 55(3):(suppl) Abstr #2084

C. Tan and P.J. Ainsworth, Novel mutations in the connexin 32 gene associated with X-linked Charcot Marie Tooth disease. (1994) Am J Hum Genet 55(3):(suppl) Abstr #1431

D. I. Rodenhiser, K. Hovland, S. M. Singh, M.B. Coulter-Mackie, P.J. Ainsworth, A. Stuart, J. Elliott, and Y. Ouellette. Identification and characterization of NF1 mutations using single strand confrmational polymorphism (SSCP) analysis. (1994) Am J Hum Genet 55(3):(suppl) Abstr #2134

J. Zielenski, D. Markiewicz, P.J. Ainsworth, B.F. Habbick, L.-C. Tsui. Characterization of two exon-skipping mutations (3120G>A, 600G>A3) in the CFTR gene. (1994) Am J Hum Genet 55(3):(suppl) Abstr #2161

P.J. Ainsworth, R. Weksberg, C Shuman. Somatic mosaicism in a case of sporadic neurofibromatosis. (1995) Am J Hum Genet 57 (4):(suppl) Abstr #440

H. Soltan, P.J. Ainsworth, R. Weksberg, and H.A.Gardner. Maternal origin of NF1 gene deletions in sporadic neurofibromatosis. (1995) Am J Hum Genet 57 (4):(suppl) Abstr #1321

Feigenbaum, J. Reichart, S. Devgan, W. Ng, P. Ainsworth. (1996) Clinical, bichemical, and molecular analysis of a family with classical galactosemia and Lebers hereditary optic neuropathy Abstr submitted to Society for Inherited Metabolic Disorders, Mexico.

V. Sharma, P.J. Ainsworth, S.B. McCabe, E. Persad, K.M. Kueneman (1996, June 4) Concordance for polarity and not cycle frequency: Study of a monozygotic twin pair. 19th annual mtg. of the Canadian College of Neuropsychopharmacology

C.C. Tan, P.J. Ainsworth, V. Ionasescu, C.F. Bolton, A.F. Hahn, X-linked Dominant Charcot-Marie-Tooth (CMT) Disease: Novel Connexin 32 mutations and their relationship to clinical and pathological disease. (1996) The American Neurological Association: 121st annual mtg. Abstr # 215: .

D. Rodenhiser, P. Ainsworth, P. Chakraborty, S. Singh, F. O'Malley, N. Harrington, N. Kerkvliet, D. Mancini, E.Lopes. Methylated CpG and CpNpG motifs, direct repeats and homonucleotide tracts are preferential sites for heterogeneous point mutations in the BRCA1 gene. (1996) Am J Hum Genet (suppl) Abstr #4411

Noel Harrington, Debora Mancini, Nancy Kerkvliet, Frances O'Malley, Peter Ainsworth, Pranesh Chakraborty, Shiva Singh, Jack Jung and David Rodenhiser. Constitutively methylated mutation hotspots in the Retinoblastoma (RB1) gene.(1996) Am J Hum Genet (suppl) Abstr #4392

Rodenhiser D, F O'Malley, D Mancini, P Ainsworth, S Singh, P Chakraborty, N Kerkvliet. Evaluating DNA methylation patterns at mutational hotspots using archival paraffinized tissues.(submitted to the International Association of Pathology annual meeting).

Rodenhiser D, Debora Mancini, Shiva Singh and Peter Ainsworth. DNA methylation and mutagenesis of the BRCA1, NF1 and RB1 tumour suppressor genes. (submitted to the Human Genome Project annual meeting).

Rodenhiser DI, Mancini DN, O'Malley FP, and Ainsworth PJ (1997) Constitutive and Variable DNA Methylation in the Coding and Regulatory Regions of the BRCA1 Breast Cancer Susceptibility Gene. Accepted for presentation at the San Antonio Breast Cancer Symposium.

Mancini DN, Rodenhiser DI, Ainsworth PJ, O'Malley FP, Singh SM, Xing W, and Archer TK (1997). CpG methylation wthin the 5' BRCA1 UTR suggests a role for epimutation in the genetic heterogeneity of human breast cancer. (1997) Am J Hum Genet 61 (4):(suppl) Abstr #396

P.J. Ainsworth, B.C. Murphy, C.C. Tan, and A.F. Hahn. (1997) Genotype / phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the Connexin 32 gene. (1997) Am J Hum Genet 61 (4):(suppl) Abstr #1901

Mancini DN, Ainsworth PJ, O'Malley FP, Singh SM, Archer TK, Rodenhiser D. CpG methylation at transcription factor binding sites in tumours and an MCF7 cell line. (Oct. 1998) Am J Hum Genet 63 (4):(suppl) Abstr #417

Haines T, Rodenhiser D, Ainsworth P. (2001) Allele-specific methylation of the Nf1 gene during development. Am J Hum Genet 69 (suppl) Abstr #487

Nanda S, Ainsworth PJ, Jung JH, Scanlan N, . Sheridan G. (2001) The Predictive Value of Established Clinical Criteria for BRCA1/2 analysis. Am J Hum Genet 69 (suppl) Abstr #393

Glendon G, Ozcelik H, Knight J, Carson N, Ainsworth P, Taylor S, Carter R, Boyd N, Andrulis A. BRCA1 and BRCA2 genotyping of cases ascertained in year one of tth population-based Ontario Familial breast Cancer Registry. (2001) Am J Hum Genet 69 (suppl) Abstr #381

C.L. Shoesmith, A.F. Hahn, D.E. Moulin, P.J. Ainsworth, London, Canada; W. Pryse-Phillips, B. Younghusband, M. O’Driscoll, R. Green, St. John’s, Canada. PAIN IN HEREDITARY SENSORY AUTONOMIC NEUROPATHY TYPE 1 Abstract submitted: International Congress on Neuromuscular Diseases, World Neuromuscular Congress, July 2002, in Vancouver, BC.

Fard, SF. Fraser BP, Reith CC, Ainsworth PJ, (2002) Identification of inactivating large scale deletions or other gene rearrangements in the BRCA1 gene by VNTR analysis coupled with Long-Range PCR.. Am J Hum Genet Am J Hum Genet 71 (suppl) Abstr #357

O’Driscoll MP, Ainsworth P, Bieger D, Goldberg YP, Green RC, Hahn AF, Khani-Hanjan A, Hayden MR, Macfarlane J, Pryse-Phillips W, Samuels M, Younghusband HB, (2002) Phenotypic description of Hereditary Sensory Neuropathy Type 1 A (HSN1A) in two kindreds segregating the same mutation in the gene encoding Serine Palmitoyl Transferase Long Chain subunit 1 (SPTLC1). Am J Hum Genet Am J Hum Genet 71 (suppl) Abstr #999

Ainsworth PJ, Koscinski D, Fraser BP, Stuart JA, Assessment of hMSH2/hMLH1 genomic rearrangements in individuals at risk for Hereditary Nonpolyposis Colorectal Cancer. (2003) Am J Hum Genet 73 (suppl) Abstr #480.

Haines T, Ainsworth P, Yee SP, Bialek D, Rodenhiser D, Demethylation of the murine myogenin promoter is closely associated with transcriptional activation during development. (2003) Am J Hum Genet 73 (suppl) Abstr #977.

Nanda S, Sheridan G, Scanlan N, Horler A, Jung J, Ainsworth PJ. Cancer surveillance and preventative surgery in members of BRCA1/2 mutation positive families. (2003) Am J Hum Genet 73 (suppl) Abstr #1102.

Scanlan N, Sheridan G, Nanda S, Horler A, Jung J, Ainsworth PJ. Genetic counseling and testing process in BRCA1/2 families: Are patients satisfied. (2003) Am J Hum Genet 73 (suppl) Abstr #1107.

Sheridan G, Scanlan N, Horler A, Nanda S, Jung J, Ainsworth PJ. The psychosocial impact of genetic testing on members of BRCA1/2 mutation positive families. (2003) Am J Hum Genet 73 (suppl) Abstr #1108.

P. J. Ainsworth, * D. J. Allingham-Hawkins, I. L. Andrulis, B. Bapat,J. Beck, N. Carson, R. F. Carter, J. A. Dolling, H. E. Feilotter, D. Kennedy, j. Miyazaki, H. Ozcelik, M. D. Speevak, S. A. M. Taylor Standardization of assays for mutation screening of the brca1 gene amongst seven ontario molecular genetics laboratories. (2004) Am Soc
Hum Genet 54th Ann Mtg. Abstr #472.

S. R. Nanda, N. Scanlan, G. Sheridan, P. J. Ainsworth ,J. H. Jung, A. Sluyters Accuracy of computerized brca1/2 risk assessment models. (2004) Am Soc Hum Genet 54th Ann Mtg. Abstr #559.

Carmichael, J. A. Stuart, P. J. Ainsworth, The effects of temperature and other variables on illegitimate splicing in leukocyte-derived mrna. (2004) Am Soc Hum Genet 54th Ann Mtg. Abstr #1357.

N. Scanlan, J. H. Jung, P. J. Ainsworth, G. Sheridan; Prenatal testing for brca1 mutation. (2004) Am Soc Hum Genet 54th Ann Mtg. Abstr #1426.

L Snell, C Temple, E Engel, S Chakrabarti, A Matarr, R Lohmann P Ainsworth, M Joseph (2005) Clinical significance of the RT-PCR positive sentinel node in Melanoma Can J Plast Surg 13(2) Abstr#33

Reith C, Vlasschaert M, Stuart A, Jung J and Ainsworth P, (2006) 11th International Congress of Human Genetics Abstr#1518. Screening for germline mutations in the MEN1 gene by Thermal Gradient Capillary Electrophoresis (TGCE)

Ainsworth P, Allingham-Hawkins D, Carson N, Carter R, Dolling J, Ozcelik H, Speevak M, and Taylor S. (2006) 11th International Congress of Human Genetics Abstr#1017 Genomic re-arrangements account for ~8% of deleterious mutations in the in BRCA1 and BRCA2 genes in a population at risk for HBOC

Taylor S, Ainsworth,P, Allingham-Hawkins D, Carson N, Carter R, Dolling J, and Speevak M, (2006) 11th International Congress of Human Genetics Abstr# A preliminary estimate of the incidence of deleterious BRCA1 and BRCA2 gene mutations in the general population of Ontario, Canada.

Invited presentations at professional meetings:

Ainsworth P.J. and Rodenhiser D.I. (1991) Clinical application of PCR-based assays for the detection of restriction fragment length polymorphisms linked to Neurofibromatosis type 1. NF Clinical Care Symposium, International Congress of Human Genetics, Washington, DC. Neurofibromatosis Res. Newsletter 7: #3-4; p9

P.J. Ainsworth, R. Weksberg, C Shuman. (1995) Somatic mosaicism in a case of sporadic neurofibromatosis. Neurofibromatosis Symposium, 45th Annual Meeting of the American Society of Human Genetics, Minneapolis, Minn.

H. Soltan, P.J. Ainsworth, R. Weksberg, and H.A.Gardner. (1995) Maternal origin of NF1 gene deletions in sporadic neurofibromatosis. Neurofibromatosis Symposium, 45th Annual Meeting of the American Society of Human Genetics, Minneapolis, Minn.

Technical Notes:

Ainsworth P.J. and Rodenhiser D.I. (1992) Diagnostic detection of SSCP: a simplified non-radioisotopic method as applied to exon 11 of the CFTR gene. Pharmacia LKB Biotechnology, Application Note #382.