Jillian Parboosingh

Mainstreaming of clinical genetic testing: A conceptual framework.

Mackley MP, Richer J, Guerin A, Caluseriu O, Armstrong L, Blood KA, Bernier F, Boswell-Patterson C, Chard M, Costain G, Dyment D, Eaton A, Faghfoury H, Frosk P, Gillespie MK, Goh ES, Hayeems RZ, Hashemi B, Innes AM, Jackson M, Laberge AM, Limoges J, Marshall C, McMillan H, Nelson TN, Osmond M, Parboosingh J, Penney L, Prince B, Sawyer SL, Siu VM, Thomas MA, Turner L, Villeneuve-Cloutier N, Hartley T, Boycott KM

A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources.

Price TR, Hodgkinson V, Westbury G, Korngut L, Innes MA, Marshall CR, Nelson TN, Huang L, Parboosingh J, Mah JK

Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.

Niri F, Nicholls J, Baptista Wyatt K, Walker C, Price T, Kelln R, Hume S, Parboosingh J, Lilley M, Kolski H, Ridsdale R, Muranyi A, Mah JK, Bulman DE

Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

Grafodatskaya D, O’Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J, Canadian Open Genetics Repository Working Group

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.

Lazier J, Hartley T, Brock JA, Caluseriu O, Chitayat D, Laberge AM, Langlois S, Lauzon J, Nelson TN, Parboosingh J, Stavropoulos DJ, Boycott K, Armour CM, Canadian College of Medical Geneticists

Association of sleep spindle characteristics with executive functioning in healthy sedentary middle-aged and older adults.

Guadagni V, Byles H, Tyndall AV, Parboosingh J, Longman RS, Hogan DB, Hanly PJ, Younes M, Poulin MJ

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.

Eaton A, Hartley T, Kernohan K, Ito Y, Lamont R, Parboosingh J, Barrowman N, Care4Rare consortium, Innes AM, Boycott K

Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders.

Borch LA, Parboosingh J, Thomas MA, Veale P

CCMG practice guideline: laboratory guidelines for next-generation sequencing