| Using Repeat Masker to identify repetitive elements in genomic sequences N Chen Current protocols in bioinformatics 5 (1), 4.10. 1-4.10. 14, 2004 | 2548 | 2004 |
| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 312 | 2016 |
| FLAGS, frequently mutated genes in public exomes C Shyr, M Tarailo-Graovac, M Gottlieb, JJY Lee, C van Karnebeek, ... BMC medical genomics 7, 1-14, 2014 | 155 | 2014 |
| NANS-mediated synthesis of sialic acid is required for brain and skeletal development CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ... Nature Genetics 48 (7), 777-784, 2016 | 149 | 2016 |
| Genetic modifiers and rare mendelian disease KMTH Rahit, M Tarailo-Graovac Genes 11 (3), 239, 2020 | 134 | 2020 |
| Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS ABP van Kuilenburg, M Tarailo-Graovac, PA Richmond, BI Drögemöller, ... New England Journal of Medicine 380 (15), 1433-1441, 2019 | 83 | 2019 |
| The genotypic and phenotypic spectrum of PIGA deficiency M Tarailo-Graovac, G Sinclair, S Stockler-Ipsiroglu, M Van Allen, ... Orphanet Journal of Rare Diseases 10, 1-13, 2015 | 83 | 2015 |
| Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability KP Schlingmann, S Bandulik, C Mammen, M Tarailo-Graovac, R Holm, ... The American Journal of Human Genetics 103 (5), 808-816, 2018 | 80 | 2018 |
| The role of the clinician in the multi-omics era: are you ready? CDM van Karnebeek, SB Wortmann, M Tarailo-Graovac, M Langeveld, ... Journal of Inherited Metabolic Disease 41, 571-582, 2018 | 76 | 2018 |
| PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights DL Johnstone, HH Al-Shekaili, M Tarailo-Graovac, NI Wolf, AS Ivy, ... Brain 142 (3), 542-559, 2019 | 74 | 2019 |
| Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders M Tarailo-Graovac, JYA Zhu, A Matthews, CDM Van Karnebeek, ... Genetics in medicine 19 (12), 1300-1308, 2017 | 71 | 2017 |
| Dissecting the genetic and etiological causes of primary microcephaly F Jean, A Stuart, M Tarailo-Graovac Frontiers in neurology 11, 570830, 2020 | 60 | 2020 |
| Synthetic lethal interactions identify phenotypic “interologs” of the spindle assembly checkpoint components M Tarailo, S Tarailo, AM Rose Genetics 177 (4), 2525-2530, 2007 | 59 | 2007 |
| Bi-allelic GOT2 mutations cause a treatable malate-aspartate shuttle-related encephalopathy CDM van Karnebeek, RJ Ramos, XY Wen, M Tarailo-Graovac, ... The American Journal of Human Genetics 105 (3), 534-548, 2019 | 58 | 2019 |
| Clinical delineation of the PACS1‐related syndrome—Report on 19 patients JHM Schuurs‐Hoeijmakers, ML Landsverk, N Foulds, MK Kukolich, ... American Journal of Medical Genetics Part A 170 (3), 670-675, 2016 | 58 | 2016 |
| Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability A Stray-Pedersen, JM Cobben, TE Prescott, S Lee, C Cang, K Aranda, ... The American Journal of Human Genetics 98 (1), 202-209, 2016 | 57 | 2016 |
| Atypical cerebral palsy: genomics analysis enables precision medicine AM Matthews, I Blydt-Hansen, B Al-Jabri, J Andersen, M Tarailo-Graovac, ... Genetics in Medicine 21 (7), 1621-1628, 2019 | 53 | 2019 |
| A mutational analysis of Caenorhabditis elegans in space Y Zhao, K Lai, I Cheung, J Youds, M Tarailo, S Tarailo, A Rose Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 601 (1 …, 2006 | 52 | 2006 |
| The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus RJ Ragotte, A Dhanrajani, J Pleydell-Pearce, KL Del Bel, ... Clinical immunology 175, 143-146, 2017 | 49 | 2017 |
| Uncovering missing heritability in rare diseases T Maroilley, M Tarailo-Graovac Genes 10 (4), 275, 2019 | 46 | 2019 |
Wyeth WassermanProfessor of Medical Genetics, University of British ColumbiaGeverifieerd e-mailadres voor cmmt.ubc.ca
