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Jillian Parboosingh

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Sarah L Sawyer; Frank Dicke; Adam Kirton; B McInnes; Jillian S Parboosingh; Thilinie Rajapkse; Ivan M Rebeyka; Francois P Bernier
Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4.
Danielle C Lynch; Jacques L Michaud; Sarah M Nikkel; Jillian S Parboosingh; Carlos A Bacino; Francois P Bernier; Philippe Campeau; David A Dyment; Lijia Huang; Didier Lacombe; Brendan Lee; A Micheil Innes
Identification of novel mutations confirms Pde4d as a major gene causing acrodysostosis.
Francois P Bernier; Kati J Buckingham; Peter H Byers; Oana Caluseriu; Bridget A Fernandez; Jerome L Gorski; A Micheil Innes; Jeffrey W Innis; Ethylin Jabs; Julie Lauzon; Jacek Majewski; Margaret McMillin; Sarah Ng; Deborah A Nickerson; Hilary Racher; Jane L Schuette; Jeremy Schwartzentruber; Richard H Scott; Jay Shendure; Victoria Mok Siu; Gregor Andelfinger; Michael Bamshad; Jillian S Parboosingh
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

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All Publications

2013: Sarah L Sawyer; Frank Dicke; Adam Kirton; B McInnes; Jillian S Parboosingh; Thilinie Rajapkse; Ivan M Rebeyka; Francois P Bernier
Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4.
American journal of medical genetics. Part A 2013;161(5):1148-53.
2013: Danielle C Lynch; Jacques L Michaud; Sarah M Nikkel; Jillian S Parboosingh; Carlos A Bacino; Francois P Bernier; Philippe Campeau; David A Dyment; Lijia Huang; Didier Lacombe; Brendan Lee; A Micheil Innes
Identification of novel mutations confirms Pde4d as a major gene causing acrodysostosis.
Human mutation 2013;34(1):97-102.
2012: Francois P Bernier; Kati J Buckingham; Peter H Byers; Oana Caluseriu; Bridget A Fernandez; Jerome L Gorski; A Micheil Innes; Jeffrey W Innis; Ethylin Jabs; Julie Lauzon; Jacek Majewski; Margaret McMillin; Sarah Ng; Deborah A Nickerson; Hilary Racher; Jane L Schuette; Jeremy Schwartzentruber; Richard H Scott; Jay Shendure; Victoria Mok Siu; Gregor Andelfinger; Michael Bamshad; Jillian S Parboosingh
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
American journal of human genetics 2012;90(5):925-33.
2012: Catrina Loucks; D Ross McLeod; Carole Ober; Jillian S Parboosingh; Alfredo Pinto; C Anthony Rupar; Victoria Mok Siu; Jessica X Chong; Albert E Chudley; Robert A Hegele; A Micheil Innes
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
American journal of medical genetics. Part A 2012;158A(5):1229-32.
2012: Elizabeth A Freiheit; Diane Galbraith; William A Ghali; David B Hogan; Merril Knudtson; Todd Anderson; Andrew M Demchuk; Misha Eliasziw; Peter Faris; Jillian S Parboosingh; Scott B Patten; Colleen J Maxwell
A dynamic view of depressive symptoms and neurocognitive change among patients with coronary artery disease.
Archives of general psychiatry 2012;69(3):244-55.
2010: Kym M Boycott; Chandree Beaulieu; Erik G Puffenberger; D Ross McLeod; Jillian S Parboosingh; A Micheil Innes
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.
American journal of medical genetics. Part A 2010;152A(6):1349-56.
2009: R A Ferrier; R Brian Lowry; E G Lemire; G P Stoeber; J Howard; Jillian S Parboosingh
Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy.
American journal of medical genetics. Part A 2009;149A(12):2871-3.
2009: Kym M Boycott; Carsten Bonnemann; Joachim Herz; Stephanie Neuert; Chandree Beaulieu; James N Scott; Anuradha Venkatasubramanian; Jillian S Parboosingh
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
Journal of child neurology 2009;24(10):1310-5.
2008: Joachim Herz; Kym M Boycott; Jillian S Parboosingh
"Devolution" of bipedality.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(21):E25.
2008: Tanya L Gillan; Christine Davies; A Micheil Innes; Jayda Howard; Lisa Graham; Judy Chernos; Peter J Bridge; Jillian S Parboosingh
An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier.
American journal of medical genetics. Part A 2008;146A(8):1067-71.
2008: Kym M Boycott; Jillian S Parboosingh; Bernie N Chodirker; R Brian Lowry; D Ross McLeod; Jackie Morris; Cheryl R Greenberg; Albert E Chudley; Francois P Bernier; Julian Midgley; Lisbeth Birk Møller; A Micheil Innes
Clinical genetics and the Hutterite population: a review of Mendelian disorders.
American journal of medical genetics. Part A 2008;146A(8):1088-98.
2008: Karen W Gripp; A Micheil Innes; Marni E Axelrad; Tanya L Gillan; Jillian S Parboosingh; Christine Davies; Norma J Leonard; Monique Lapointe; Daniel Doyle; Sarah Catalano; Linda Nicholson; Deborah L Stabley; Katia Sol-Church
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
American journal of medical genetics. Part A 2008;146A(6):683-90.
2007: Shashirekha Shetty; Kym M Boycott; Tanya L Gillan; Kathy Bowser; Jillian S Parboosingh; Brenda McInnes; Judy Chernos; Francois P Bernier
Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
Clinical dysmorphology 2007;16(4):253-6.
2007: Kym M Boycott; Jillian S Parboosingh; James N Scott; D Ross McLeod; Cheryl R Greenberg; T Mary Fujiwara; Jean K Mah; Julian Midgley; Andrew Wade; Francois P Bernier; Bernard N Chodirker; Martin Bunge; A Micheil Innes
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.
American journal of medical genetics. Part A 2007;143A(15):1715-25.
2006: Leanne M Yunker; Jillian S Parboosingh; Heather E Conradson; Peter Faris; Peter J Bridge; Jean Buithieu; Lawrence M Title; Francois Charbonneau; Subodh Verma; Eva Lonn; Todd J Anderson
The effect of iron status on vascular health.
Vascular medicine (London, England) 2006;11(2):85-91.
2006: K M Davey; Jillian S Parboosingh; D Ross McLeod; A Chan; R Casey; P Ferreira; Floyd F Snyder; P J Bridge; Francois P Bernier
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
Journal of medical genetics 2006;43(5):385-93.
2005: Kym M Boycott; Shauna Flavelle; Alexandre Bureau; Hannah C Glass; T Mary Fujiwara; Elaine Wirrell; Krista Davey; Albert E Chudley; James N Scott; D Ross McLeod; Jillian S Parboosingh
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.
American journal of human genetics 2005;77(3):477-83.