| Rare deletions at the neurexin 3 locus in autism spectrum disorder AK Vaags, AC Lionel, D Sato, MK Goodenberger, QP Stein, S Curran, ... The American Journal of Human Genetics 90 (1), 133-141, 2012 | 266 | 2012 |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ... Human molecular genetics 23 (10), 2752-2768, 2014 | 187 | 2014 |
| Male-biased autosomal effect of 16p13. 11 copy number variation in neurodevelopmental disorders M Tropeano, JW Ahn, RJB Dobson, G Breen, J Rucker, A Dixit, DK Pal, ... PloS one 8 (4), e61365, 2013 | 148 | 2013 |
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome JM Ellingford, JW Ahn, RD Bagnall, D Baralle, S Barton, C Campbell, ... Genome medicine 14 (1), 73, 2022 | 140 | 2022 |
| CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems S Chénier, G Yoon, B Argiropoulos, J Lauzon, R Laframboise, JW Ahn, ... Journal of neurodevelopmental disorders 6, 1-9, 2014 | 106 | 2014 |
| Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals-results from four years’ clinical application for over 8,700 patients JW Ahn, S Bint, A Bergbaum, K Mann, RP Hall, CM Ogilvie Molecular cytogenetics 6, 1-6, 2013 | 91 | 2013 |
| Gammaherpesvirus lytic gene expression as characterized by DNA array JW Ahn, KL Powell, P Kellam, DG Alber Journal of virology 76 (12), 6244-6256, 2002 | 82 | 2002 |
| Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre JW Ahn, C Mackie Ogilvie, A Welch, H Thomas, R Madula, A Hills, ... BMC Medical Genetics 8, 1-13, 2007 | 80 | 2007 |
| Parental origin of interstitial duplications at 15q11. 2-q13. 3 in schizophrenia and neurodevelopmental disorders AR Isles, A Ingason, C Lowther, J Walters, M Gawlick, G Stöber, E Rees, ... PLoS genetics 12 (5), e1005993, 2016 | 76 | 2016 |
| Phenotypic features in patients with 15q11. 2 (BP1‐BP2) deletion: Further delineation of an emerging syndrome M Cafferkey, JW Ahn, F Flinter, C Ogilvie American Journal of Medical Genetics Part A 164 (8), 1916-1922, 2014 | 67 | 2014 |
| Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance JW Ahn, K Mann, S Walsh, M Shehab, S Hoang, Z Docherty, ... Molecular Cytogenetics 3, 1-8, 2010 | 63 | 2010 |
| Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation L Addis, JW Ahn, R Dobson, A Dixit, CM Ogilvie, D Pinto, AK Vaags, ... Human mutation 36 (9), 842-850, 2015 | 55 | 2015 |
| Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform S Hoang, JW Ahn, K Mann, S Bint, S Mansour, T Homfray, S Mohammed, ... European Journal of Medical Genetics 54 (2), 121-129, 2011 | 47 | 2011 |
| NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series–further understanding of the relevance of NRXN1 to neurodevelopmental disorders S Curran, JW Ahn, H Grayton, DA Collier, CM Ogilvie Journal of molecular psychiatry 1, 1-7, 2013 | 46 | 2013 |
| Recommendations for reporting results of diagnostic genomic testing ZC Deans, JW Ahn, IM Carreira, E Dequeker, M Henderson, L Lovrecic, ... European Journal of Human Genetics 30 (9), 1011-1016, 2022 | 45 | 2022 |
| Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues? G Pichert, SN Mohammed, JW Ahn, CM Ogilvie, L Izatt Journal of medical genetics 48 (8), 535-539, 2011 | 44 | 2011 |
| MLPA for confirmation of array CGH results and determination of inheritance A Hills, JW Ahn, C Donaghue, H Thomas, K Mann, CM Ogilvie Molecular cytogenetics 3, 1-7, 2010 | 43 | 2010 |
| Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions M Tropeano, D Howley, MJ Gazzellone, CE Wilson, JW Ahn, ... Journal of medical genetics 53 (8), 536-547, 2016 | 36 | 2016 |
| A novel non‐invasive prenatal sickle cell disease test for all at‐risk pregnancies J van Campen, L Silcock, S Yau, Y Daniel, JW Ahn, C Ogilvie, K Mann, ... British journal of haematology 190 (1), 119-124, 2020 | 32 | 2020 |
| A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report CM Ogilvie, JW Ahn, K Mann, RG Roberts, F Flinter Molecular Cytogenetics 2, 1-5, 2009 | 31 | 2009 |
Professor Richard DobsonGroup lead and Professor in Bioinformatics, Kings College London and UCLVerified email at kcl.ac.uk