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Sarah Dyack
Sarah Dyack
Associate Professor of Pediatrics and Medicine Dalhousie University
Verified email at iwk.nshealth.ca
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Cited by
Cited by
Year
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man
K Tuschl, PT Clayton, SM Gospe, S Gulab, S Ibrahim, P Singhi, R Aulakh, ...
The American Journal of Human Genetics 90 (3), 457-466, 2012
3752012
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man
K Tuschl, PT Clayton, SM Gospe, S Gulab, S Ibrahim, P Singhi, R Aulakh, ...
The American Journal of Human Genetics 90 (3), 457-466, 2012
3752012
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the …
J Kazenwadel, GA Secker, YJ Liu, JA Rosenfeld, RS Wildin, ...
Blood, The Journal of the American Society of Hematology 119 (5), 1283-1291, 2012
3002012
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
DL Guernsey, H Jiang, DR Campagna, SC Evans, M Ferguson, ...
Nature genetics 41 (6), 651-653, 2009
2572009
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections
D Guo, E Regalado, DE Casteel, RL Santos-Cortez, L Gong, JJ Kim, ...
The American Journal of Human Genetics 93 (2), 398-404, 2013
2282013
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients
N Sylvius, ZT Bilinska, JP Veinot, A Fidzianska, PM Bolongo, S Poon, ...
Journal of medical genetics 42 (8), 639-647, 2005
1152005
Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females
NK Renault, S Dyack, MJ Dobson, T Costa, WL Lam, WL Greer
European journal of Human genetics 15 (6), 628-637, 2007
952007
Neurodevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyperglycinemia
KJ Bjoraker, MA Swanson, CR Coughlin II, J Christodoulou, ES Tan, ...
The Journal of pediatrics 170, 234-239, 2016
832016
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
C Auray-Blais, CM Blais, U Ramaswami, M Boutin, DP Germain, S Dyack, ...
Clinica chimica acta 438, 195-204, 2015
762015
Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy
DT Burns, S Donkervoort, JS Müller, E Knierim, D Bharucha-Goebel, ...
The American Journal of Human Genetics 102 (5), 858-873, 2018
742018
Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer
D Gaston, S Hansford, C Oliveira, M Nightingale, H Pinheiro, ...
PLoS genetics 10 (10), e1004669, 2014
742014
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
S Siddiq, BJ Wilson, ID Graham, M Lamoureux, SD Khangura, K Tingley, ...
Orphanet journal of rare diseases 11, 1-10, 2016
662016
Evidence for a new contiguous gene syndrome, the chromosome 16p13. 3 deletion syndrome alias severe Rubinstein–Taybi syndrome
O Bartsch, S Rasi, A Delicado, S Dyack, LM Neumann, E Seemanová, ...
Human genetics 120, 179-186, 2006
562006
National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute …
DC Guo, E Regalado, DE Casteel, RL Santos-Cortez, L Gong, JJ Kim, ...
Am J Hum Genet 93 (02), 398-404, 2013
512013
Genotype and phenotype spectrum of NRAS germline variants
F Altmüller, C Lissewski, D Bertola, E Flex, Z Stark, S Spranger, ...
European Journal of Human Genetics 25 (7), 823-831, 2017
482017
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
C Tyson, Y Qiao, C Harvard, X Liu, FP Bernier, B McGillivray, SA Farrell, ...
Molecular cytogenetics 1, 1-9, 2008
482008
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
EM Hostetler, ES Regalado, DC Guo, N Hanna, P Arnaud, ...
Journal of medical genetics 56 (4), 252-260, 2019
452019
Deletions in 16q24. 2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
GR Handrigan, D Chitayat, AC Lionel, M Pinsk, AK Vaags, CR Marshall, ...
Journal of medical genetics 50 (3), 163-173, 2013
442013
De novo truncating mutations in WASF1 cause intellectual disability with seizures
Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren, MA Kurian, I Marey, ...
The American Journal of Human Genetics 103 (1), 144-153, 2018
372018
Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22. 3q23. 2
S Alliman, J Coppinger, J Marcadier, H Thiese, P Brock, S Shafer, ...
Clinical genetics 78 (2), 162-168, 2010
352010
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