Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts EM Jenkinson, MP Rodero, PR Kasher, C Uggenti, A Oojageer, ... Nature genetics 48 (10), 1185-1192, 2016 | 139 | 2016 |
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation MS Hildebrand, VE Jackson, TS Scerri, O Van Reyk, M Coleman, ... Neurology 94 (20), e2148-e2167, 2020 | 100 | 2020 |
Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish JC Van De Weghe, TDS Rusterholz, B Latour, ME Grout, KA Aldinger, ... The American Journal of Human Genetics 101 (1), 23-36, 2017 | 95 | 2017 |
DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency CV Logan, JE Murray, DA Parry, A Robertson, R Bellelli, Ž Tarnauskaitė, ... The American Journal of Human Genetics 103 (6), 1038-1044, 2018 | 87 | 2018 |
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36 HP Zaveri, TF Beck, A Hernández-García, KE Shelly, T Montgomery, ... PloS one 9 (1), e85600, 2014 | 69 | 2014 |
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 | 65 | 2016 |
ALG1‐CDG: clinical and molecular characterization of 39 unreported patients BG Ng, SA Shiryaev, D Rymen, EA Eklund, K Raymond, M Kircher, ... Human mutation 37 (7), 653-660, 2016 | 62 | 2016 |
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in Medicine 24 (1), 130-145, 2022 | 59 | 2022 |
Genetic variants of interleukin‐1RN and interleukin‐1β genes and risk of cervical cancer H Singh, R Sachan, H Goel, B Mittal BJOG: An International Journal of Obstetrics & Gynaecology 115 (5), 633-638, 2008 | 59 | 2008 |
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease VT Huynh, MP Audrézet, JA Sayer, AC Ong, S Lefevre, V Le Brun, ... Kidney international 98 (2), 476-487, 2020 | 54 | 2020 |
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects A Rao, S O'Donnell, N Bain, C Meldrum, D Shorter, H Goel European journal of medical genetics 57 (2-3), 65-70, 2014 | 49 | 2014 |
KBG syndrome: an Australian experience N Murray, B Burgess, R Hay, A Colley, S Rajagopalan, J McGaughran, ... American journal of medical genetics Part A 173 (7), 1866-1877, 2017 | 43 | 2017 |
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ... The American Journal of Human Genetics 107 (1), 164-172, 2020 | 42 | 2020 |
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction G Ravenscroft, S Pannell, G O'Grady, R Ong, HC Ee, F Faiz, L Marns, ... Neurogastroenterology & Motility 30 (9), e13371, 2018 | 36 | 2018 |
Maternal attitudes to newborn screening for fragile X syndrome L Christie, T Wotton, B Bennetts, V Wiley, B Wilcken, C Rogers, J Boyle, ... American Journal of Medical Genetics Part A 161 (2), 301-311, 2013 | 36 | 2013 |
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann–Steiner Syndrome S Dunkerton, M Field, V Cho, E Bertram, B Whittle, A Groves, H Goel American Journal of Medical Genetics Part A 167 (9), 2182-2187, 2015 | 32 | 2015 |
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development A Kaspi, MS Hildebrand, VE Jackson, R Braden, O Van Reyk, T Howell, ... Molecular psychiatry 28 (4), 1647-1663, 2023 | 29 | 2023 |
Severe speech impairment is a distinguishing feature of FOXP1‐related disorder RO Braden, DJ Amor, SE Fisher, C Mei, CT Myers, H Mefford, D Gill, ... Developmental Medicine & Child Neurology 63 (12), 1417-1426, 2021 | 28 | 2021 |
NMNAT1 variants cause cone and cone-rod dystrophy BM Nash, R Symes, H Goel, ME Dinger, B Bennetts, JR Grigg, ... European Journal of Human Genetics 26 (3), 428-433, 2018 | 28 | 2018 |
Leukoencephalopathy with calcifications and cysts: genetic and phenotypic spectrum YJ Crow, H Marshall, GI Rice, L Seabra, EM Jenkinson, K Baranano, ... American Journal of Medical Genetics Part A 185 (1), 15-25, 2021 | 24 | 2021 |