Works by Dyack, Sarah

Results: 23

Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2711, doi. 10.1002/ajmg.a.63369

By:

McKee‐Muir, Olivia;
Dyack, Sarah;
Taillon, Monique;
Brock, Jo‐Ann;
Sheriko, Jordan

Publication type:

Article

Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 554, doi. 10.1002/ajmg.a.63023

By:

Alghaith, Fahad A.;
Arts, Heleen H.;
Plourde, Francois J.;
Boswall, Andrew;
Gulati, Partima;
McNeely, P. Daniel;
Acott, Philip D.;
Wong, Kenny K.;
Dyack, Sarah

Publication type:

Article

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Published in:

2020

By:

Tingley, Kylie;
Lamoureux, Monica;
Pugliese, Michael;
Geraghty, Michael T.;
Kronick, Jonathan B.;
Potter, Beth K.;
Coyle, Doug;
Wilson, Kumanan;
Kowalski, Michael;
Austin, Valerie;
Brunel-Guitton, Catherine;
Buhas, Daniela;
Chan, Alicia K. J.;
Dyack, Sarah;
Feigenbaum, Annette;
Giezen, Alette;
Goobie, Sharan;
Greenberg, Cheryl R.;
Ghai, Shailly Jain;
Inbar-Feigenberg, Michal

Publication type:

journal article

Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030055

By:

Mador-House, Rachel;
Zaiping Liu;
Dyack, Sarah

Publication type:

Article

Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 713, doi. 10.1111/cge.14418

By:

Alghaith, Fahad A.;
MacKay, Sara;
Wallace, Karin;
Locke, Jeff;
Robitaille, Johane M.;
Dyack, Sarah;
Arts, Heleen H.

Publication type:

Article

p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 449, doi. 10.1111/cge.13618

By:

Kernohan, Kristin D.;
McBride, Arran;
Hartley, Taila;
Rojas, Samantha K.;
Dyment, David A.;
Boycott, Kym M.;
Dyack, Sarah

Publication type:

Article

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 628, doi. 10.1038/sj.ejhg.5201799

By:

Renault, Nisa K.;
Dyack, Sarah;
Dobson, Melanie J.;
Costa, Teresa;
Lam, Wan L.;
Greer, Wenda L.

Publication type:

Article

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Published in:

Nature Genetics, 2009, v. 41, n. 6, p. 651, doi. 10.1038/ng.359

By:

Guernsey, Duane L.;
Haiyan Jiang;
Campagna, Dean R.;
Evans, Susan C.;
Ferguson, Meghan;
Kellogg, Mark D.;
Lachance, Mathieu;
Matsuoka, Makoto;
Nightingale, Mathew;
Rideout, Andrea;
Saint-Amant, Louis;
Schmidt, Paul J.;
Orr, Andrew;
Bottomley, Sylvia S.;
Fleming, Mark D.;
Ludman, Mark;
Dyack, Sarah;
Fernandez, Conrad V.;
Samuels, Mark E.

Publication type:

Article

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

Published in:

Canadian Journal of Neurological Sciences, 2019, v. 46, n. 6, p. 717, doi. 10.1017/cjn.2019.240

By:

Paik, Karen;
Lines, Matthew A.;
Chakraborty, Pranesh;
Khangura, Sara D.;
Latocki, Maureen;
Al-Hertani, Walla;
Brunel-Guitton, Catherine;
Khan, Aneal;
Penny, Blaine;
Rockman-Greenberg, Cheryl;
Rupar, C. Anthony;
Sondheimer, Neal;
Tarnopolsky, Mark;
Tingley, Kylie;
Coyle, Doug;
Dyack, Sarah;
Feigenbaum, Annette;
Geraghty, Michael T.;
Gillis, Jane;
van Karnebeek, Clara D. M.

Publication type:

Article

Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.

Published in:

Canadian Journal of Neurological Sciences, 2018, v. 45, n. 2, p. 150, doi. 10.1017/cjn.2017.261

By:

Jarrett, Pamela;
Easton, Alexander;
Rockwood, Kenneth;
Dyack, Sarah;
McCollum, Alexander;
Siu, Victoria;
Mirsattari, Seyed M.;
Massot-Tarrús, Andreu;
Beis, M. Jill;
D’Souza, Nolan;
Darvesh, Sultan

Publication type:

Article

Family‐centred care interventions for children with chronic conditions: A scoping review.

Published in:

Health Expectations, 2024, v. 27, n. 1, p. 1, doi. 10.1111/hex.13897

By:

Chow, Andrea J.;
Saad, Ammar;
Al‐Baldawi, Zobaida;
Iverson, Ryan;
Skidmore, Becky;
Jordan, Isabel;
Pallone, Nicole;
Smith, Maureen;
Chakraborty, Pranesh;
Brehaut, Jamie;
Cohen, Eyal;
Dyack, Sarah;
Gillis, Jane;
Goobie, Sharan;
Greenberg, Cheryl R.;
Hayeems, Robin;
Hutton, Brian;
Inbar‐Feigenberg, Michal;
Jain‐Ghai, Shailly;
Khangura, Sara

Publication type:

Article

Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1.

Published in:

Journal of Gastroenterology & Hepatology, 2013, v. 28, n. 3, p. 560, doi. 10.1111/j.1440-1746.2012.07290.x

By:

Copeland, Emily;
Renault, Nisa;
Renault, Marc;
Dyack, Sarah;
Bulman, Dennis E;
Bedard, Karen;
Otley, Anthony;
Magee, Fergall;
Acott, Philip;
Greer, Wenda L

Publication type:

Article

Fabry disease and nephrogenic diabetes insipidus.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 8, p. 1185, doi. 10.1007/s00467-006-0110-x

By:

Wornell, Philip;
Dyack, Sarah;
Crocker, John;
Yu, Weiming;
Acott, Philip

Publication type:

Article

Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.

Published in:

Paediatrics & Child Health (1205-7088), 2012, v. 17, n. 4, p. 185, doi. 10.1093/pch/17.4.185

By:

Prasad, Chitra;
Speechley, Kathy N.;
Dyack, Sarah;
Rupar, Charles A.;
Chakraborty, Pranesh;
Kronick, Jonathan B.

Publication type:

Article

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Published in:

2016

By:

Siddiq, Shabnaz;
Wilson, Brenda J;
Graham, Ian D;
Lamoureux, Monica;
Khangura, Sara D;
Tingley, Kylie;
Tessier, Laure;
Chakraborty, Pranesh;
Coyle, Doug;
Dyack, Sarah;
Gillis, Jane;
Greenberg, Cheryl;
Hayeems, Robin Z;
Jain-Ghai, Shailly;
Kronick, Jonathan B;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J;
Prasad, Chitra;
Siriwardena, Komudi

Publication type:

journal article

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0548-2

By:

Siddiq, Shabnaz;
Wilson, Brenda J.;
Graham, Ian D.;
Lamoureux, Monica;
Khangura, Sara D.;
Tingley, Kylie;
Tessier, Laure;
Chakraborty, Pranesh;
Coyle, Doug;
Dyack, Sarah;
Gillis, Jane;
Greenberg, Cheryl;
Hayeems, Robin Z.;
Jain-Ghai, Shailly;
Kronick, Jonathan B.;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J.;
Prasad, Chitra;
Siriwardena, Komudi

Publication type:

Article

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Published in:

BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4

By:

Iverson, Ryan;
Taljaard, Monica;
Geraghty, Michael T.;
Pugliese, Michael;
Tingley, Kylie;
Coyle, Doug;
Kronick, Jonathan B.;
Wilson, Kumanan;
Austin, Valerie;
Brunel-Guitton, Catherine;
Buhas, Daniela;
Butcher, Nancy J.;
Chan, Alicia K. J.;
Dyack, Sarah;
Goobie, Sharan;
Greenberg, Cheryl R.;
Jain-Ghai, Shailly;
Inbar-Feigenberg, Michal;
Karp, Natalya;
Kozenko, Mariya

Publication type:

Article

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 179, doi. 10.1007/s00439-006-0215-0

By:

Bartsch, Oliver;
Rasi, Sasan;
Delicado, Alicia;
Dyack, Sarah;
Neumann, Luitgard;
Seemanová, Eva;
Volleth, Marianne;
Haaf, Thomas;
Kalscheuer, Vera

Publication type:

Article

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201

By:

Chowdhury, Shimul;
Bandholz, Anne M.;
Parkash, Sandhya;
Dyack, Sarah;
Rideout, Andrea L.;
Leppig, Kathleen A.;
Thiese, Heidi;
Wheeler, Patricia G.;
Tsang, Marilyn;
Ballif, Blake C.;
Shaffer, Lisa G.;
Torchia, Beth S.;
Ellison, Jay W.;
Rosenfeld, Jill A.

Publication type:

Article

Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 406, doi. 10.1002/ajmg.a.34272

By:

Brock, Jo-Ann K.;
Dyack, Sarah;
Ludman, Mark;
Dumas, Nadine;
Gaudet, Michele;
Morash, Barbara

Publication type:

Article

Risk of false-positive prenatal diagnosis using interphase FISH testing: hybridization of alpha-satellite X probe to chromosome 19.

Published in:

1999

By:

Winsor, Elizabeth J. T.;
Dyack, Sarah;
Wood-Burgess, E. Martha;
Ryan, Greg;
Winsor, E J;
Dyack, S;
Wood-Burgess, E M;
Ryan, G

Publication type:

journal article

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 20, doi. 10.1002/jmd2.12057

By:

Jilani, Abdulhakim;
Matviychuk, Diana;
Blaser, Susan;
Dyack, Sarah;
Mathieu, Jean;
Prasad, Asuri N.;
Prasad, Chitra;
Kyriakopoulou, Lianna;
Mercimek‐Andrews, Saadet

Publication type:

Article

Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72 : A Case Report.

Published in:

Journal of Geriatric Psychiatry & Neurology, 2024, v. 37, n. 2, p. 157, doi. 10.1177/08919887231195337

By:

LeBlanc, Marissa A.;
Gough, Amy;
Rideout, Andrea L.;
Dyack, Sarah;
Singh, Kathleen;
MacNeil, Meagan

Publication type:

Article