| Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ... Nature genetics 44 (4), 445-449, 2012 | 274 | 2012 |
| Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly MA Lines, L Huang, J Schwartzentruber, SL Douglas, DC Lynch, ... The American Journal of Human Genetics 90 (2), 369-377, 2012 | 217 | 2012 |
| Molecular genetics of Axenfeld–Rieger malformations MA Lines, K Kozlowski, MA Walter Human molecular genetics 11 (10), 1177-1187, 2002 | 198 | 2002 |
| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 195 | 2012 |
| Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld–Rieger syndrome and anterior segment dysgenesis FB Berry, MA Lines, JM Oas, T Footz, DA Underhill, PJ Gage, MA Walter Human molecular genetics 15 (6), 905-919, 2006 | 169 | 2006 |
| DNM1L-related mitochondrial fission defect presenting as refractory epilepsy JR Vanstone, AM Smith, S McBride, T Naas, M Holcik, G Antoun, ... European Journal of Human Genetics 24 (7), 1084-1088, 2016 | 140 | 2016 |
| Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit H Daoud, SM Luco, R Li, E Bareke, C Beaulieu, O Jarinova, N Carson, ... Cmaj 188 (11), E254-E260, 2016 | 108 | 2016 |
| Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations MA Lines, K Kozlowski, SC Kulak, RR Allingham, E Héon, R Ritch, ... Investigative ophthalmology & visual science 45 (3), 828-833, 2004 | 89 | 2004 |
| 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 |
| Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing MA Lines, R Jobling, L Brady, CR Marshall, SW Scherer, AR Rodriguez, ... Neurology 82 (11), 963-968, 2014 | 71 | 2014 |
| Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease Neuropediatrics, doi: 10.1055/s-0037-1601449, 2017 | 69* | 2017 |
| Mandibulofacial dysostosis with microcephaly: mutation and database update L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ... Human mutation 37 (2), 148-154, 2016 | 62 | 2016 |
| Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome M Tetreault, S Fahiminiya, H Antonicka, GA Mitchell, MT Geraghty, ... Human genetics 134, 981-991, 2015 | 61 | 2015 |
| De novo substitutions of TRPM3 cause intellectual disability and epilepsy DA Dyment, PA Terhal, CF Rustad, K Tveten, C Griffith, P Jayakar, ... European Journal of Human Genetics 27 (10), 1611-1618, 2019 | 54 | 2019 |
| Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia JL Zambonin, A Bellomo, H Ben-Pazi, DB Everman, LM Frazer, ... Orphanet journal of rare diseases 12, 1-8, 2017 | 54 | 2017 |
| Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation JL Marcadier, M Boland, CR Scott, K Issa, Z Wu, AD McIntyre, RA Hegele, ... Cmaj 187 (2), 102-107, 2015 | 51 | 2015 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 45 | 2020 |
| Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling KE Glinton, PJ Benke, MA Lines, MT Geraghty, P Chakraborty, ... Molecular genetics and metabolism 123 (3), 309-316, 2018 | 43 | 2018 |
| Identification of target genes regulated by FOXC1 using nickel agarose–based chromatin enrichment Y Tamimi, M Lines, M Coca-Prados, MA Walter Investigative ophthalmology & visual science 45 (11), 3904-3913, 2004 | 40 | 2004 |
| Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome TB Balci, J Davila, D Lewis, A Boafo, E Sell, J Richer, SM Nikkel, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018 | 38 | 2018 |
Kym BoycottProfessor of Pediatrics, Children's Hospital of Eastern Ontario, University of OttawaVerified email at cheo.on.ca
