| CHARGE syndrome: a review P Hsu, A Ma, M Wilson, G Williams, J Curotta, CF Munns, S Mehr Journal of paediatrics and child health 50 (7), 504-511, 2014 | 196 | 2014 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 150 | 2020 |
| A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development E Eising, A Carrion-Castillo, A Vino, EA Strand, KJ Jakielski, TS Scerri, ... Molecular psychiatry 24 (7), 1065-1078, 2019 | 145 | 2019 |
| Sporadic and familial congenital cataracts: Mutational spectrum and new diagnoses using next‐generation sequencing AS Ma, JR Grigg, G Ho, I Prokudin, E Farnsworth, K Holman, A Cheng, ... Human mutation 37 (4), 371-384, 2016 | 125 | 2016 |
| Sporadic and familial congenital cataracts: Mutational spectrum and new diagnoses using next‐generation sequencing AS Ma, JR Grigg, G Ho, I Prokudin, E Farnsworth, K Holman, A Cheng, ... Human mutation 37 (4), 371-384, 2016 | 125 | 2016 |
| Extreme growth failure is a common presentation of ligase IV deficiency JE Murray, LS Bicknell, G Yigit, AL Duker, M van Kogelenberg, ... Human mutation 35 (1), 76-85, 2014 | 91 | 2014 |
| 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 | 89 | 2020 |
| Gene selection for the Australian reproductive genetic carrier screening project (“Mackenzie’s Mission”) EP Kirk, R Ong, K Boggs, T Hardy, S Righetti, B Kamien, T Roscioli, ... European Journal of Human Genetics 29 (1), 79-87, 2021 | 76 | 2021 |
| Further delineation of the KAT6B molecular and phenotypic spectrum T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ... European Journal of Human Genetics 23 (9), 1165-1170, 2015 | 62 | 2015 |
| Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics G Ravenscroft, JS Clayton, F Faiz, P Sivadorai, D Milnes, R Cincotta, ... Journal of medical genetics 58 (9), 609-618, 2021 | 52 | 2021 |
| 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 | 49 | 2022 |
| Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis AS Ma, JR Grigg, RV Jamieson Human Genetics 138, 899-915, 2019 | 45 | 2019 |
| Targeted knockout of a chemokine-like gene increases anxiety and fear responses JH Choi, YM Jeong, S Kim, B Lee, K Ariyasiri, HT Kim, SH Jung, ... Proceedings of the National Academy of Sciences 115 (5), E1041-E1050, 2018 | 42 | 2018 |
| Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization R Greenlees, M Mihelec, S Yousoof, D Speidel, SK Wu, S Rinkwitz, ... Human molecular genetics 24 (20), 5789-5804, 2015 | 41 | 2015 |
| Revealing hidden genetic diagnoses in the ocular anterior segment disorders A Ma, S Yousoof, JR Grigg, M Flaherty, AE Minoche, MJ Cowley, ... Genetics in Medicine 22 (10), 1623-1632, 2020 | 39 | 2020 |
| Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience A Ma, S Gurnasinghani, EP Kirk, C McClenaghan, GK Singh, DK Grange, ... American Journal of Medical Genetics Part A 179 (8), 1585-1590, 2019 | 29 | 2019 |
| Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics) A Nisselle, M Janinski, M Martyn, B McClaren, N Kaunein, J Maguire, ... Genetics in medicine 23 (7), 1356-1365, 2021 | 27 | 2021 |
| WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase LB Waddell, SJ Bryen, BB Cummings, A Bournazos, FJ Evesson, H Joshi, ... Neurology: Genetics 7 (1), e554, 2021 | 22 | 2021 |
| The immune phenotype of patients with CHARGE syndrome P Hsu, A Ma, EH Barnes, M Wilson, LH Hoefsloot, T Rinne, C Munns, ... The Journal of Allergy and Clinical Immunology: In Practice 4 (1), 96-103. e2, 2016 | 20 | 2016 |
| New mutations in GJA8 expand the phenotype to include total sclerocornea AS Ma, JR Grigg, I Prokudin, M Flaherty, B Bennetts, RV Jamieson Clinical Genetics 93 (1), 155-159, 2018 | 16 | 2018 |
Robyn JamiesonSydney UniversityVerified email at cmri.org.au
