Jillian S. Parboosingh - Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary

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

Tiffany R. Price,Victoria Hodgkinson, Grace Westbury,Lawrence Korngut,Micheil A. Innes,Christian R. Marshall,Tanya N. Nelson,Lijia Huang,Jillian Parboosingh,Jean K. Mah

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2024)

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Genome Sequencing Identifies Biallelic Variants in SCLT1 in a Patient with Syndromic Nephronophthisis: Reflections on the SCLT1-related Ciliopathy Spectrum

E. Gillesse, A. Wade,J. S. Parboosingh,P. Y. B. Au,F. P. Bernier,R. E. Lamont,A. M. Innes

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 11 (2024)

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Biallelic Variants in Ribonuclease Inhibitor (RNH1), an Inflammasome Modulator, Are Associated with a Distinctive Subtype of Acute, Necrotizing Encephalopathy

Vandana Shashi,Kelly Schoch,Rebecca Ganetzky,Peter G. Kranz,Neal Sondheimer,M. Louise Markert,Heidi Cope,Azita Sadeghpour,Philip Roehrs,Thomas Arbogast,Colleen Muraresku,Amanda V. Tyndall,Michael J. Esser,Kristine E. Woodward, Billie Ping-Yee Au,Jillian S. Parboosingh,Ryan E. Lamont,Francois P. Bernier,Nicola A. M. Wright, Susa M. Benseler, Simon J. Parsons,Mays El-Dairi,Edward C. Smith, Purnima Valdez, Michael Tennison, A. Micheil Innes, Erica E. Davias

GENETICS IN MEDICINEno. 9 (2023)

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

Farshad Niri, Jessie Nicholls,Kelly Baptista Wyatt,Christine Walker, Tiffany Price, Rhonda Kelln,Stacey Hume,Jillian Parboosingh,Margaret Lilley,Hanna Kolski,Ross Ridsdale, Andrew Muranyi,Jean K. Mah, Dennis E. Bulman

INTERNATIONAL JOURNAL OF NEONATAL SCREENING（2023）

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Hnrnpul1 Controls Transcription, Splicing, and Modulates Skeletal and Limb Development in Vivo

Danielle L. Blackwell,Sherri D. Fraser,Oana Caluseriu,Claudia Vivori,Amanda Tyndall,Ryan E. Lamont,Jillian S. Parboosingh,A. Micheil Innes,Francois P. Bernier,Sarah J. Childs

G3 Genes Genomes Geneticsno. 5 (2022)

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Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

Daria Grafodatskaya,Darren D O'Rielly,Karine Bedard,Darci T Butcher,Christopher J Howlett,Alice Lytwyn,Elizabeth McCready,Jillian Parboosingh,Elizabeth L Spriggs,Andrea K Vaags,Tracy L Stockley

JOURNAL OF MEDICAL GENETICS（2022）

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De Novo TRIM8 Variants Impair Its Protein Localization to Nuclear Bodies and Cause Developmental Delay, Epilepsy, and Focal Segmental Glomerulosclerosis

Patricia L. Weng,Amar J. Majmundar,Kamal Khan,Tze Y. Lim,Shirlee Shril,Gina Jin,John Musgrove,Minxian Wang,Dina F. Ahram,Vimla S. Aggarwal,Louise E. Bier,Erin L. Heinzen,Ana C. Onuchic-Whitford,Nina Mann,Florian Buerger,Ronen Schneider,Konstantin Deutsch,Thomas M. Kitzler,Verena Klambt,Amy Kolb,Youying Mao,Christelle Moufawad El Achkar,Adele Mitrotti,Jeremiah Martino,Bodo B. Beck,Janine Altmuller,Marcus R. Benz,Shoji Yano,Mohamad A. Mikati,Talha Gunduz,Heidi Cope,Vandana Shashi,Howard Trachtman,Monica Bodria,Gianluca Caridi,Isabella Pisani,Enrico Fiaccadori,Asmaa S. AbuMaziad,Julian A. Martinez-Agosto,Ora Yadin,Jonathan Zuckerman,Arang Kim,Ulrike John-Kroegel,Amanda Tyndall,Jillian S. Parboosingh,A. Micheil Innes,Agnieszka Bierzynska,Ania B. Koziell,Mordi Muorah,Moin A. Saleem,Julia Hoefele,Korbinian M. Riedhammer,Ali G. Gharavi,Vaidehi Jobanputra,Emma Pierce-Hoffman,Eleanor G. Seaby,Anne O'Donnell-Luria,Heidi L. Rehm,Shrikant Mane,Vivette D. D'Agati,Martin R. Pollak,Gian Marco Ghiggeri,Richard P. Lifton,David B. Goldstein,Erica E. Davis,Friedhelm Hildebrandt,Simone Sanna-Cherchi

The American Journal of Human Genetics（2021）

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Clinical Application of Fetal Genome-Wide Sequencing During Pregnancy: Position Statement of the Canadian College of Medical Geneticists

Joanna Lazier,Taila Hartley,Jo-Ann Brock,Oana Caluseriu,David Chitayat,Anne-Marie Laberge,Sylvie Langlois,Julie Lauzon,Tanya N. Nelson,Jillian Parboosingh,Dimitri J. Stavropoulos,Kym Boycott,Christine M. Armour

Journal of Medical Genetics（2021）

引用12浏览0WOS引用

The Alberta Newborn Screening Approach for Sickle Cell Disease: the Advantages of Molecular Testing

Janet R. Zhou,Ross Ridsdale,Lauren MacNeil,Margaret Lilley,Stephanie Hoang,Susan Christian,Pamela Blumenschein,Vanessa Wolan,Aisha Bruce,Gurpreet Singh,Nicola Wright,Jillian S. Parboosingh,Ryan E. Lamont,Iveta Sosova

International journal of neonatal screening（2021）

引用6浏览0WOS引用

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