Dr V Siu


Dr. Siu joined the Children's Hospital of Western Ontario (CHWO) in 1989. She is ranked Associate Professor at the University of Western Ontario (UWO).

She attended the University of Toronto and earned an Arts and Science degree in 1978 followed by her M.D. in 1982. She completed her first year of fellowship training at the Hospital for Sick Children in Toronto and then moved to London in 1987 where she completed her postgraduate training.

PUBLICATIONS

Articles in Peer- Reviewed Journals

41. Zhang I, Husein M, Dworschak-Stokan A, Jung J, Matic DB, Siu V, Prasad C, Doyle PC. (2012 ) Neurofibromatosis and velopharyngeal insufficiency: is there an association? J Otolaryngol Head Neck Surg. Feb 1;41(1):58-64.

40. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. (2012) Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome. Am J Hum Genet. May 4;90(5):925-33.

39. Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM. (2012). A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. Am J Med Genet Part A 158A:1229 –1232.

38. D'Alessandro LC, Casey B, Siu VM (2011) Situs Inversus Totalis and a Novel ZIC3 Mutation in a Family with X-linked Heterotaxy. Congenit Heart Dis. Dec 16. doi: 10.1111/j.1747-0803.2011.00602.x. [Epub ahead of print]

37. Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. (2012). De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. Feb 26;44(4):440-4. doi: 10.1038/ng.1091.

36. Lahiry P, Lee LJ, Frey BJ, Rupar CA, Siu VM, Blencowe BJ, Hegele RA. (2011).Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing. PLoS One.;6(9):e25400. Epub Sep 27.

35. Lehalle D, Williams C, Siu VM, Clayton-Smith J (2011). Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. Am J Med Genet A. Jul;155A(7):1685-9.33.

34. Payne M, Rupar CA, Siu GM and Siu VM (2011). The Amish, Mennonite, and Hutterite Genetic Disorders Database. Pediatrics and Child Health. V16 e23.

33. Xu J, Siu VM (2010). Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex? Prenat Diagn. 30(9): 839-44.

32. Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA (2010). Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A. 152A: 1641-53.

31. Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA (2010). Amish microcephaly: Longterm survival and biochemical characterization. Am J Med Genet A. 152A: 1747-51.

30. Dennis AW, Siu VM, Campagnolo C, and Soldin SJ (2010). Interference in an unconjugated estriol assay causing a false negative integrated prenatal screening report. Prenat Diagn. 2010 Feb: 30(2) 165-7.

29. Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR (2009). Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet. 84(2):188-96. Epub 2009 Jan 29.

28. Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA (2009). A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet. 84:134-47.

27. Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B (2009). Unusual 8p inverted duplication deletion with telomere capture from 8q. Eur J Med Genet 52(1):31-6. Epub 2008 Nov 17.

26. Korngut L, Siu VM, Venance SL, Levin S, Ray P, Lemmers R, Keith J, and Campbell C (2008). Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 18: 579-82.

25. Xu J, Fan YS, and Siu VM (2008). A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome? Am J Med Genet A. 146A: 1886-9.

24. Wei S, Siu VM, Decker A, Quigg MH, Roberson J, Xu J, and Adeyinka A (2007). False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite DNA probe (D18Z1) to the heterochromatic region of chromosome 9. Prenat Diagn.27 (11):1064-6.

23. Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, and Morton DH (2007). Polyhydramnios, megalencephaly, and symptomatic epilepsy caused by a homozygous 7 kilobase deletion in LYK5. Brain130 (7): 1929-41.

22. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arned M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID (2007). Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation. Am J Hum Genet 80:485-94.

21. Raihan K, Uddin Y, Siu VM, Fan Y-S, O’Reilly RL, Rao J, Singh SM (2006). Breakpoint Associated with a novel 2.3Mb deletion in the VCFS region of 22q11 and the role of Alu(SINE) in recurring microdeletions. BMC Medical Genetics 7:18.

20. Egier D, Orton R, Allen L, Siu VM (2005). Bilateral Complete Isolated Cryptophthalmos: A Case Report. Ophthalmic Genetics 26:4, 185-9.
19. Takhar J, Malla AK, Siu V, MacPherson C, Fan YS, Townsend L (2002). Interstitial deletion of the long arm of chromosome 21 in a case of a first episode of psychosis. Acta Psychiatr Scand 106:71-75.

18. Bhayana S, Siu VM, Joubert GI, Clarson CL, Cao H, and Hegele RA (2002). Cardiomyopathy in congenital complete lipodystrophy: A case report and literature review. Clin Genet 61:283-7.

17. Nowaczyk MJM, Siu VM, Krakowiak PA, and Porter FD (2001). Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz Syndrome. Am J Med Genet. 103:223-5.

16. Fan YS, Zhang Y, Speevak M, Farrell S, Jung, JH and Siu VM (2001). Detection of subtelomeric aberrations in patients with unexplained mental retardation and developmental disabilities by FISH using Cytocell multiprobe-T system and spectral karyotyping. Genet Med 3:416-21.

15. Fan YS, Siu VM, Jung JH, Farrell SA and Cote GB (2001). Direct duplication of 8p21.3 p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features. Am J Med Genet 103:231-234.

14. Rupar CA, Matsell D, Surry S, Siu V (2001). A G339R mutation in the CTNS gene is a common cause of nephropatic cystinosis in the southwestern Ontario Amish Mennonite population. J Med Genet 38:615-616.

13. Fan YS and Siu VM (2001). Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3 p23.3 and a rearranged duplication of 8q24.13 qter. Am J Med Genet 102:266-271.

12. Steele MM, Al-Adeimi M, Siu VM, Fan YS (2001). A case of autism with interstitial deletion of chromosome 13. Journal of Autism and Developmental Disorders 31: 231-34.

11. Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates Jr, Read AP, Donnai D, Tassabehji M (2000). Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 8: 955-63.

10. Fan YS, Siu VM, Jung J, Xiu J (2000). Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements. Genetic Testing 4:9-14.

9. Siu VM (1996). Lightning strikes four times. University of Western Ontario Medical Journal 66:44-7.

8. Shimkets R, Gailani MR, Siu VM, Yang-Feng T, Pressman CL, Levanant S, Goldstein A, Dean M, Bale AE (1996). Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. Am J Hum Genet 59:417-22.

7. Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA (1995). Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 9:92-5.

6. Gordon K, Siu VM, Sergovich F, Jung J (1993). 18q- mosaicism associated with Rett syndrome phenotype. Am J Med Genet 46:142-4.

5. Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fekété C, Briard ML, Mok-Siu VM, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G (1993). A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 4:346-350.

4. Merry DE, Lesko JG, Siu V, Flintoff WF, Collins F, Lewis RA, Nussbaum RL (1990). DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. Genomics 6:609-15.

3. Siu VM, Gonder JR, Jung JH, Sergovich FR, Flintoff WF (1990). Choroideremia associated with an X-autosomal translocation. Hum Genet 84:459-64.

2. Cremers FP, van de Pol DJ, Wieirnga B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers H-H (1989). Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. Proc Natl Acad Sci USA 86:7510-4.

1. Siu, V, Kissoon N (1987). Hazards of microwave ovens. Pediatr Emerg Care.3:99-103.

Online Publication:

Payne M.(2009). Amish, Mennonite, and Hutterite Genetic Disorders Database. UWOMJ Vol 78 No 3. Published online http://www.uwomeds.com/uwomj/v78n3.htm. My role: Faculty supervisor and reviewer.

PUBLISHED ABSTRACTS AND PROFESSIONAL PRESENTATIONS:

57. ACMG meeting abstract 283, page 224

56. Siu V and Xu J (2011). A de novo 1.3 Mb deletion in 17p21.31 associated with partial agenesis of corpus callosum and pervasive developmental disorder. Poster presentation at the 1st International Standards for Cytogenomics Arrays Consortium. Atlanta, Georgia. January 31- February 1.

55. Chudley SE, Siu V, McDonald P, Aradhya S, Holden JJA, Lewis MES, Rajcan-Separovic E (2010). A distinctive and recurring phenotype associated with an unique 17q25.3 duplication in two unrelated individuals. Poster presentation at the 31st Annual David W. Smith Workshop on Malformations and Morphogenesis. Union, Washington, August 27-September 1.

54. Xu J and Siu VM (2010). Does the proportion of cells with isodicentric Yp detected at amniocentesis correlate with phenotypic sex? Presented at the 15th International Conference on Prenatal Diagnosis and Therapy. Amsterdam, Netherlands, July 11-14.

54. Siu VM and Xu J (2010). A 7.4 Mb deletion in 18q12.1q12.3 associated with altered G-banding staining pattern. Poster presentation at the 17th Annual Clinical Genetics Meeting, American College of Medical Geneticists. Albuquerque, New Mexico, March 24-28, 2010. Poster 113

54. Rupar CA and Siu V. The population frequency of allels that cause cystinosis, cystic fibrosis, congenital glaucoma and galactosemia in an isolated Old Order Amish community. Abstract at the 59th Annual Meeting of the American Society of Human Genetics, Honolulu, Hawaii. October 20 -24, 2009. Abstract #637.

53. Zhang I, Husein M, Dworshak-Stokan A, Jung J, Matic D, Siu V, Prasad C, and Doyle PC. Neurofibromatosis and Velopharyngeal Insufficiency:
Is There An Association? Presentation at the 66th American Cleft Palate and Craniofacial Meeting. Scottsdale, AZ, April 24, 2009.

52. Siu VM and Fan YS. A 17q21.31 deletion associated with progressive muscle hypertrophy and skeletal anomalies. Poster presentation. European Society of Human Genetics annual conference. Vienna, Austria, May 23-26, 2009.

51. Siu VM, Hegele RA, and Rupar CA (2009). Restrictive dermopathy due to uniparental paternal isodisomy for chromosome 1. Poster presentation. American College of Medical Genetics annual meeting. Tampa, Florida, March 26-29,2009. Abstract #238.

50. Summers AM, Huang, T, Boucher K, Lepage N, Hoffman B, Okun N, Toi A, Siu V, MacDonald K, O’Donnell A, Rashid S, Farrell SA (2008). The implementation of Integrated Prenatal Screening for Down syndrome in Ontario, Canada. International Society for Prenatal Diagnosis (ISPD) 14th International Conference on Prenatal Diagnosis and Therapy, Vancouver, BC, June 1 to 4, 2008. Poster presentation.

49. Summers AM, Huang, T, Boucher K, Lepage N, Hoffman B, Okun N, Toi A, Siu V, MacDonald K, O’Donnell A, Rashid S, Farrell SA (2008). Integrated Prenatal Screening in Ontario since 1999. International Down Syndrome Screening Group (IDSSG) 8th International Congress, Vancouver, BC, May 31 to June 1, 2008. Oral presentation.

48. Xu J, Kekre N, Fan YS, and Siu VM (2008). A child with features of Goldenhar syndrome and a 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?American College of Medical Genetics Annual Meeting, Phoenix, Arizona, March 12-16, 2008. Poster presentation #99, p 127.

47. D’Alessandro L and Siu VM (2008). X-Linked Heterotaxy Secondary to a Novel Missense Mutation in ZIC3 with Evidence of Incomplete Penetrance. American College of Medical Genetics Annual Meeting, Phoenix, Arizona. March 12-16, 2008. Poster presentation #160, p 143.

46. Xu, Jie, Nan, S, Siu, VM. 2008. Apparently Fragile (X) chromosome turns out to be a translocated X involving Xq27; warning when chromosome finding fits clinical indications. Abstract for The

45. Siu VM, Xu, Jie. 2008. Differing clinical presentation between a mother and son with the same inherited 22q11.21q11.23 microduplication. American Society of Human Genetics 58th Annual Meeting, Nov 11-15, Philadelphia, Pennsylvania. Abstract No. 1049.

44. Campbell C, Siu V, Venance S, Jacob P (2007). Incidence and Cohort Study of Congenital DM. International Myotonic Dystrophy Consortium IDMC-6 (platform presentation) Milan, Italy.

43. Xu J, Hamilton B, and Siu VM (2007). Duplication of 16q22.3qter/13.6 Mb DNA characterized by G-banding, FISH, SKY and array CGH. 57th Annual Meeting of American Society of Human Genetics, San Diego, California, Oct 23-27, 2007. A1647.

42. Xu J, Hamilton B, Mak L, and Siu VM (2007). Microdeletion of distal 15q characterized by FISH and CGH microarray. Great Lakes Chromosome Conference, Toronto, Ontario, May 17-18.

41. Korngut L, Siu V, Venance S, Levin S, Ray P, Campbell C (2006). Severe Duchenne Muscular Dystrophy phenotype with a novel dystrophin gene mutation. The Canadian Journal of Neurological Sciences: 33 (S1) S21.

40. Siu VM, Campbell C, Ramsay D, and Levin S (2006). Severe early-onset pectoral girdle muscular dystrophy associated with dystrophin mutation. American College of Medical Genetics Annual Meeting, March 23-26, 2006. Dallas, Texas.

39. Xu J, Munavish D, and Siu VM (2005). De novo deletion of distal 7q36.1 associated with cleft lip and palate and hypospadias. Published abstract, American Society of Human Genetics Annual Meeting.

38. Campbell C, Levin S, Jacob P, Siu V, Venance S. (2005) Incidence and Cohort Study of Congenital Myotonic Dystrophy. International Myotonic Dystrophy Consortium IDMC-5, p73. (platform presentation), Quebec City

37. Siu V, Kuepfer S, Dewar R, Rupar CA (2004). High carrier rate for cystinosis in the Ontario Old Order Amish. Poster presentation at the American Society of Human Genetics, Toronto, Ontario, October 26-30, 2004. Am J Hum Genet A1804/T

36. Bakker S, Siu VM (2004). Further delineation of Majewski/hydrolethalus syndrome in an Old Order Amish kindred. Poster presentation at the American Society of Human Genetics, Toronto, Ontario, October 26-30, 2004. Am J Hum Genet A595/F4

35. Campagnolo C, Tokmakejian S, Gagnon R, Kane J-A, Corley K, Munavish D, Siu, VM (2004). Stepwise implementation of enchanced prenatal screening in Southwestern Ontario. Poster presentation at the American Society of Human Genetics, Toronto, Ontario, October 26-30, 2004. Am J Hum Genet A2770/F4

34. Siu VM, Rupar CA (2003). Amish microcephaly due to mitochondrial deoxynucleotide carrier deficiency is associated with lactic acidosis and agenesis of the corpus callosum. Poster presentation at the American Society of Human Genetics Meeting, Los Angeles, CA, November 4-8, 2003. Am J Hum Genet (suppl) 73: A1637.

33. Zhang Y, O’Reilly R, Siu VM, Singh SM (2003). Identification and molecular characterization of a 2.3 Mb deletion in a (del) 22q11 patient with VCFS and slight psychiatric phenotypes. Acepted for presentation at the World Congress of Psychiatric Genetics, Quebec City, Quebec, October 7, 2003.

32. Siu VM, Rupar CA (2002). Newborn screening for treatable disorders in the Old Order Amish of Southwestern Ontario. Poster presentation at the American Society of Human Genetics Meeting, Baltimore, MD October 15-19, 2002. Am J Hum Genet (suppl) 71: A379, #1215.

31. Takhar J, Malla AK, Siu V, MacPherson C, Fan YS (2001). Interstitial deletion of long arm of chromosome 21 in a case of a first episode of psychosis. Canadian Psychiatric Association 52nd Annual Meeting. Banff, Alberta. October 31- November 2, 2002.

30. Takhar J, Malla AK, Siu V, MacPherson C, Fan YS (2001). Interstitial deletion of long arm of chromosome 21 in a case of a first episode of psychosis. Poster presentation at the PEPP Research Day, University of Western Ontario, June 20, 2002.

29. Takhar J, Malla AK, Siu V, MacPherson C, Fan YS (2001). Interstitial deletion of long arm of chromosome 21 in a case of a first episode of psychosis. Poster presentation at the 11th Biennial Winter Workshop on Schizophrenia, February 24-March 1, 2002, Davos, Switzerland.

28. Fan YS, Zhang Y, Speevak M, Farrell S, Jung JH, Siu VM (2001). Microdeletions and cryptic translocations detected by FISH with multiple subtelomeric probes and spectral karyotyping in idiopathic mental retardation. Poster presentation at the American Society of Human Genetics Meeting, San Diego, CA, Oct 12-16/01. Am J Hum Genet 69(suppl 4):A330, #863.

27. Rupar T, Siu VM, Jung JH, Rip JW (2001). X-linked chondrodysplasia punctata due to arylsulfatase-E (ARSE) mutations: expansion of the phenotype and genotype. Poster presentation at the American Society of Human Genetics Meeting, San Diego, CA, Oct 12-16, 2001. Am J Hum Genet 69(suppl 4):A302, #695.

26. Siu VM, Orton RB (2001). Autosomal dominant isolated cryptophthalmos (Parks-Saal) syndrome - a third family. Poster presentation at the American Society of Human Genetics Meeting, San Diego, CA, Oct 12-16, 2001. Am J Hum Genet 69(suppl.4):A309, #740.

25. Fan YS, Jung JH, Siu VM, Farrell SA, and Cote GB (2000). Direct duplication of 8p21.3p23.1 : FISH delineation and clinical significance. Poster presentation at the 10th International Congress of Human Genetics, May 15-19, 2001 Vienna, Austria. Eur J Hum Genet 9 (suppl 1):151.

24. Fan YS, Zhang Y, Siu V, Jung JH. Detection of subtelomeric translocations and deletions in patients with developmental delay using Cytocell Multiprobe-T system. Annual Clinical Genetics Meeting, Miami, Florida, March 1-4, 2001. Genet Med 3:240.

23. Fan YS and Siu VM (2000). A complex derivative chromosome 8 with an inverted duplication of 8p21.3  p23.3 and a rearranged duplication of 8q24.13  qter characterized by FISH. Poster presentation at the American Society of Human Genetics Meeting, Philadelphia, PA, October, 2000. Am J Hum Genet 67(suppl 2):A156, #818.

22. Nowaczyk MJM, Siu VM, Hunter AGW, Farrell S, McCaughey D, Whelan DT (2000). Incidence of Smith-Lemli-Opitz Syndrome (SLOS) in Ontario, Canada. Poster presentation at the American Society of Human Genetics Meeting, Philadelphia, PA, October, 2000. Am J Hum Genet 67 (suppl 2):A278, #1527.

21. Siu VM and Nowaczyk MJM (2000). Hypertension and adrenal insufficiency in a patient with Smith-Lemli-Opitz syndrome. Poster presentation at the American Society of Human Genetics Meeting, Philadelphia, PA. October, 2000. Am J Hum Gene 67 (suppl 2):A291, #1606.

20. Fan Y, Jung J, Siu, V, and Xiu J (2000). Sensitivity of multiple color spectral karyotyping assessed by small constitutional translocation. Platform presentation at the ACMG Annual Clinical Genetics Meeting, Palm Springs, CA, March 2000. Genet Med 2(1).

19. Siu VM, Gordon BA, Ouellette Y, Superti-Furga A (1999). Prolonged survival in a case of atelosteogenesis type 2. Poster presentation at the American Society of Human Genetics Meeting, San Francisco, CA, October 1999. Am J Hum Genet 65 (suppl), A345, #1947.

18. Fan YS, Cairney AE, and Siu VM (1997). Polysplenia and neutropenia in a patient with 22q11 deletion and trichorhinophalangeal syndrome. Poster presentation at the American Society of Human Genetics Meeting, Baltimore, Maryland, October 28-November 1, 1997. Am J Hum Genet 61 (suppl):A97, #542.

17. Siu VM, Belloni E, Shi X-M, Tsui L-C, and Scherer SW (1997). Sacral agenesis and holoprosencephaly associated with a submicroscopic 7q36 deletion. Poster presentation at the American Society of Human Genetics Meeting, Baltimore, Maryland, October 28-November 1, 1997, Am J Hum Genet 61 (suppl): A113, #638.

16. Vandenberg J, Gillett J, Siu VM (1996). Thiamine-responsive leukodystrophy in an Amish Kindred. Platform presentation at the AGCO (Association of Genetics Colleagues of Ontario) annual meetinjg, Ottawa

15. Siu VM, Li M-L, Teshima IE (1996). De novo interstitial 2q deletion in a child with features of Di George Syndrome. Am J Hum Genet 59(suppl. 4):A133, #744.

14. Siu VM and Gordon BA (1994). Juvenile hyaline fibromatosis: Clinical trial of ketotifen therapy. Poster presentation at the American Society of Human Genetics Meeting, Montreal, Quebec, October 18-22, 1994, Am J Hum Genet 55:A93, #524.

13. Meschino WS, Siu VM, Miskin M and Smith C (1993). Varicella embryopathy: a new cause for elevated MSAFP. Poster presentation at the American Society of Human Genetics Meeting, New Orleans, Louisiana, October 5-9, 1993. Am J Hum Genet 53 (suppl):A1438.

12. Siu VM and Bacheyie G (1993). Maternal lupus anticoagulant associated with neonatal thrombolic event. Presentation at American Society of Human Genetics Meeting, New Orleans, Louisiana. October 5-9, 1993. Am J Hum Genet 53(suppl. 3): A1459.

11. Gailani M, Dean M, Myers JC, Chidambaram A, Leffell D, Siu V, Bale A (1993). Evaluation of COL15A1 as a candidate gene for Gorlin syndrome. Poster presentation at American Society of Human Genetics Meeting, New Orleans, Louisiana, October 5-9, 1993. Am J Hum Genet 53(suppl):A31.

10. Gailani MR, Mansfield T, Siu, V, and Bale, AE (1993). Molecular characterization of a chromosome 9q deletion in patient with Gorlin syndrome. Pediatric Research 33:128A, #752.

9. Siu VM, Sergovich FR, Jung JH (1992). Basal cell carcinoma syndrome associated with monosomy 9q. Poster presentation at the 24th Annual March of Dimes Clinical Genetics Conference, Washington, DC.

8. Siu V, Hunter A, Gardner HA, Wyatt PR (1992). The establishment of clinical genetics as a medical specialty - a Canadian model. Poster presentation at the Society of Human Genetics Meeting, San Francisco, California, November 9-13, 1992. Am J Hum Genet 51 (suppl):pA270, 1066.

7. Merry DE, Lesko JG, Siu VM, Flintoff WF, Collins F, Lewis RA, Nussbaum RL (1989). Detection of a translocation breakpoint in a woman with choroideremia and a de novo X;13 translocation and chromosome jumping toward the choroideremia gene. Poster presentation at the American Society of Human Genetics Meeting, Baltimore, Maryland, November 11-15, 1989. Am J Hum Genet 45 (suppl):A206.

6. Cremers F, van der Pol D, Wieringa B, Collins F, Siu VM, Kaplan J, Frezal J, Ropers H-H, (1989). Molecular characterization of seven microdeletions and two X-autosome translocations in patients with choroideremia. Poster presentation at the American Society of Human Genetics Meeting, Baltimore, Maryland, November 11-15, 1989. Am J Hum Genet 45 (suppl): A182.

5. Cremers F, van der Pol D, Wieringa B, Collins F, Siu VM, Flintoff W, Ropers H-H (1989). Chromosomal walking and jumping from the DXS165 locus allows physical fine mapping of the tapetochoroidal dystrophy (TCD) gene locus. Abstract. Human Gene Mapping.

4. Siu, VM, Gonder JR, Sergovich FR, Flintoff WF (1988). Choroiderem associated with an X-autosomal translocation. Poster presentation at the American Society of Human Genetics Meeting, New Orleans, Louisiana, October 12-15, 1988. Am J Hum Genet 43 (suppl): A96.

3. Siu, VM, Kissoon N, Jung JH (1988). Total anomalous pulmonary venous connection: Evidence for autosomal recessive inheritance. Presented at the David W. Smith Workshop on Malformations and Morphogenesis. August, 1987. Proceedings of the Greenwood Genetic Centre 7:226.

2. Gordon K, Siu VM, Sergovich F, Jung JH (1987). 18q- associated with Rett syndrome. Abstract presented at the David W. Smith Workshop on Malformations and Morphogenesis, August 1986. Proceedings of the Greenwood Genetic Centre 6: 140-1.

1. Logan WJ, Mok V, Swanson JM (1980). Quantitative analysis of motor function. Paper read at the Canadian Congress of Neurological Sciences, June, 1980. Can J Neurol Sci 7:333.




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