| Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine DJ Stavropoulos, D Merico, R Jobling, S Bowdin, N Monfared, ... NPJ genomic medicine 1 (1), 1-9, 2016 | 375 | 2016 |
| Use of maternal GHb concentration to estimate the risk of congenital anomalies in the offspring of women with prepregnancy diabetes A Guerin, R Nisenbaum, JG Ray Diabetes care 30 (7), 1920-1925, 2007 | 273 | 2007 |
| De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ... The American Journal of Human Genetics 107 (2), 352-363, 2020 | 71 | 2020 |
| Interstitial deletion of 11q‐implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome A Guerin, DJ Stavropoulos, Y Diab, S Chénier, H Christensen, WHA Kahr, ... American Journal of Medical Genetics Part A 158 (10), 2551-2556, 2012 | 57 | 2012 |
| Stepwise developmental regression associated with novel CACNA1A mutation AA Guerin, A Feigenbaum, EJ Donner, G Yoon Pediatric neurology 39 (5), 363-364, 2008 | 45 | 2008 |
| Pyridox (am) ine-5-phosphate oxidase deficiency treatable cause of neonatal epileptic encephalopathy with burst suppression: case report and review of the literature A Guerin, AS Aziz, C Mutch, J Lewis, CY Go, S Mercimek-Mahmutoglu Journal of child neurology 30 (9), 1218-1225, 2015 | 44 | 2015 |
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes M Scala, M Nishikawa, H Ito, H Tabata, T Khan, A Accogli, L Davids, ... Brain 145 (9), 3308-3327, 2022 | 30 | 2022 |
| Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a … S Wasim, JS Suddaby, M Parikh, S Leylachian, B Ho, A Guerin, J So Rheumatology International 39 (7), 1241-1248, 2019 | 27 | 2019 |
| Missense variant contribution to USP9X-female syndrome LA Jolly, E Parnell, AE Gardner, MA Corbett, LA Pérez-Jurado, M Shaw, ... NPJ Genomic Medicine 5 (1), 53, 2020 | 22 | 2020 |
| Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature DL Johnstone, TTM Nguyen, J Zambonin, KD Kernohan, A St‐Denis, ... Journal of inherited metabolic disease 43 (6), 1321-1332, 2020 | 18 | 2020 |
| Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld‐anomaly in a child with PTPN11 mutation A Guerin, J So, K Mireskandari, S Jougeh‐Doust, C Chisholm, R Klatt, ... American Journal of Medical Genetics Part A 167 (2), 403-406, 2015 | 14 | 2015 |
| Trends in obesity in pregnancy JG Ray, R Nisenbaum, G Singh, C Meier, A Guerin, PR Wyatt, ... Epidemiology 18 (2), 280-281, 2007 | 13 | 2007 |
| New cohort of patients with CEDNIK syndrome expands the phenotypic and genotypic spectra AY Mah-Som, C Skrypnyk, A Guerin, RH Seroor Jadah, VN Vardhan, ... Neurology: Genetics 7 (1), e553, 2021 | 12 | 2021 |
| HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia SA Farrell, S Sodhi, CR Marshall, A Guerin, A Slavotinek, T Paton, ... American Journal of Medical Genetics Part A 173 (11), 3070-3074, 2017 | 12 | 2017 |
| Ray. Ues of maternal glycosylated hemoglobin concentration to estimate the risk of congenital anomalies in the offspring of women with pre-pregnancy diabetes mellitus A Guerin, R Nisenbaum, G Joel Diabetes Care 30 (7), 1920-1925, 2007 | 12 | 2007 |
| Caffey disease A Guerin, L Dupuis, R Mendoza-Londono | 11 | 2019 |
| Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature B Ho, J MacKenzie, J Walia, M Geraghty, G Smith, J Nedvidek, A Guerin JIMD reports 46 (1), 28-34, 2019 | 10 | 2019 |
| XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome K Siriwardena, A Al‐Maawali, A Guerin, S Blaser, D Chitayat American Journal of Medical Genetics Part A 161 (7), 1714-1717, 2013 | 10 | 2013 |
| Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism CP Sjaarda, S Wood, AJM McNaughton, S Taylor, ML Hudson, X Liu, ... Journal of Human Genetics 65 (3), 287-296, 2020 | 9 | 2020 |
| Noncompaction cardiomyopathy in an infant with Walker–Warburg syndrome S Abdullah, C Hawkins, G Wilson, G Yoon, L Mertens, MT Carter, ... American Journal of Medical Genetics Part A 173 (11), 3082-3086, 2017 | 8 | 2017 |
