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 | 262 | 2009 |
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4 DL Guernsey, H Jiang, J Hussin, M Arnold, K Bouyakdan, S Perry, ... The American Journal of Human Genetics 87 (1), 40-51, 2010 | 247 | 2010 |
Deletion of chromosome 13 detected by conventional cytogenetics is a critical prognostic factor in myeloma L Chiecchio, RKM Protheroe, AH Ibrahim, KL Cheung, C Rudduck, ... Leukemia 20 (9), 1610-1617, 2006 | 205 | 2006 |
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome DL Guernsey, M Matsuoka, H Jiang, S Evans, C Macgillivray, ... Nature genetics 43 (4), 360-364, 2011 | 185 | 2011 |
Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple … MW Jenner, PE Leone, BA Walker, FM Ross, DC Johnson, D Gonzalez, ... Blood, The Journal of the American Society of Hematology 110 (9), 3291-3300, 2007 | 176 | 2007 |
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations JM Robitaille, RM Gillett, MA LeBlanc, D Gaston, M Nightingale, ... JAMA ophthalmology 132 (12), 1393-1399, 2014 | 118 | 2014 |
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2 DL Guernsey, H Jiang, SC Evans, M Ferguson, M Matsuoka, ... The American Journal of Human Genetics 85 (1), 120-129, 2009 | 99 | 2009 |
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease DL Guernsey, H Jiang, K Bedard, SC Evans, M Ferguson, M Matsuoka, ... PLoS genetics 6 (8), e1001081, 2010 | 82 | 2010 |
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 | 74 | 2014 |
Mutations in a novel serine protease PRSS56 in families with nanophthalmos A Orr, MP Dubé, JC Zenteno, H Jiang, G Asselin, SC Evans, A Caqueret, ... Molecular vision 17, 1850, 2011 | 58 | 2011 |
A novel rearrangement of occludin causes brain calcification and renal dysfunction MA LeBlanc, LS Penney, D Gaston, Y Shi, E Aberg, M Nightingale, ... Human genetics 132, 1223-1234, 2013 | 33 | 2013 |
Novel mutations in the sacsin gene in ataxia patients from Maritime Canada DL Guernsey, MP Dubé, H Jiang, G Asselin, S Blowers, S Evans, ... Journal of the neurological sciences 288 (1-2), 79-87, 2010 | 20 | 2010 |
RB1-deficient squamous cell carcinoma: The proposed source of combined Merkel cell carcinoma RC DeCoste, NM Walsh, D Gaston, TY Ly, S Pasternak, S Cutler, ... Modern Pathology 35 (12), 1829-1836, 2022 | 11 | 2022 |
Dragon Project 2558: Exploitation of SAR and optical imagery for monitoring the environmental impacts of the Three Gorges Dam JP Muller, Q Zeng, Z Li, J Liu, N Austin, D Brown, M Nightingale, J Zhang, ... Proceedings of the 2008 Dragon Symposium, Beijing, China, 21-25, 2008 | 4 | 2008 |
Abnormalities of 16q in Multiple Myeloma Are Associated with Poor Prognosis: 500K Gene Mapping and Expression Correlations Identify Two Potential Tumor Suppressor Genes, WWOX … MW Jenner, PE Leone, BA Walker, DC Johnson, L Chiecchio, ... Blood 108 (11), 110, 2006 | 4 | 2006 |
Comprehensive Genomic Profiling of Different Subsets of Merkel Cell Carcinoma: Insights on Pathogenetic Pathways R DeCoste, M Carter, D Gaston, M Nightingale, N Walsh, T Ly, ... JOURNAL OF MOLECULAR DIAGNOSTICS 22 (11), S73-S73, 2020 | | 2020 |
CONFLICT OF INTEREST A Forlino, JC Marini, DL Guernsey, H Jiang, SC Evans, M Ferguson, ... Lancet 387, 1657e71, 2016 | | 2016 |
IDENTIFICATION OF THE GENOMIC MUTATION THAT CAUSES A RARE INHERITED FORM OF KIDNEY CANCER M Leblanc, A Brown, D Gaston, M Nightingale, N Hamel, J Zhang, ... PEDIATRIC BLOOD & CANCER 62, 97-97, 2015 | | 2015 |
Ps InSAR Monitoring of Land Subsidence in Suzhou JP Muller, Q Zeng, Z Li, JG Liu, N Austin, D Brown, M Nightingale, ... Dragon 1 Programme Final Results 2004-2007 655, 38, 2008 | | 2008 |
Plasma cell immunophenotype is highly predictive of the level of chromosomal abnormalities in patients with MGUS AC Rawstron, L Chiecchio, R de Tute, GP Dagrada, RKM Protheroe, ... HAEMATOLOGICA-THE HEMATOLOGY JOURNAL 92 (6), 198-198, 2007 | | 2007 |