| Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS VA Kinsler, AC Thomas, M Ishida, NW Bulstrode, S Loughlin, S Hing, ... Journal of Investigative Dermatology 133 (9), 2229-2236, 2013 | 319 | 2013 |
| The role of imprinted genes in humans M Ishida, GE Moore Molecular aspects of medicine 34 (4), 826-840, 2013 | 232 | 2013 |
| The role and interaction of imprinted genes in human fetal growth GE Moore, M Ishida, C Demetriou, L Al-Olabi, LJ Leon, AC Thomas, ... Philosophical Transactions of the Royal Society B: Biological Sciences 370 …, 2015 | 169 | 2015 |
| Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome AC Thomas, H Williams, N Setó-Salvia, C Bacchelli, D Jenkins, ... The American Journal of Human Genetics 95 (5), 611-621, 2014 | 106 | 2014 |
| Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate E Mangold, AC Böhmer, N Ishorst, AK Hoebel, P Gültepe, H Schuenke, ... The American Journal of Human Genetics 98 (4), 755-762, 2016 | 104 | 2016 |
| Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome SB Sousa, D Jenkins, E Chanudet, G Tasseva, M Ishida, G Anderson, ... Nature genetics 46 (1), 70-76, 2014 | 97 | 2014 |
| De novo mutations in SIK1 cause a spectrum of developmental epilepsies J Hansen, C Snow, E Tuttle, DH Ghoneim, CS Yang, A Spencer, ... The American Journal of Human Genetics 96 (4), 682-690, 2015 | 63 | 2015 |
| Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight C Demetriou, S Abu-Amero, AC Thomas, M Ishida, R Aggarwal, L Al-Olabi, ... PLoS One 9 (1), e85454, 2014 | 57 | 2014 |
| Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight M Ishida, D Monk, AJ Duncan, S Abu-Amero, J Chong, SM Ring, ... The American Journal of Human Genetics 90 (4), 715-719, 2012 | 57 | 2012 |
| Genetic analyses in small-for-gestational-age newborns SE Stalman, N Solanky, M Ishida, C Alemán-Charlet, S Abu-Amero, ... The Journal of Clinical Endocrinology & Metabolism 103 (3), 917-925, 2018 | 52 | 2018 |
| Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice MMA Muggenthaler, B Chowdhury, SN Hasan, HE Cross, B Mark, ... PLoS genetics 13 (1), e1006470, 2017 | 38 | 2017 |
| New developments in Silver–Russell syndrome and implications for clinical practice M Ishida Epigenomics 8 (4), 563-580, 2016 | 33 | 2016 |
| Genome-wide methylation analysis in Silver–Russell syndrome patients AR Prickett, M Ishida, S Böhm, JM Frost, W Puszyk, S Abu-Amero, ... Human genetics 134, 317-332, 2015 | 33 | 2015 |
| Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood O Lokulo-Sodipe, L Ballard, J Child, HM Inskip, CD Byrne, M Ishida, ... Journal of Medical Genetics 57 (10), 683-691, 2020 | 30 | 2020 |
| Analysis of CDKN1C in fetal growth restriction and pregnancy loss JP Suntharalingham, M Ishida, F Buonocore, I Del Valle, N Solanky, ... F1000Research 8, 2019 | 26 | 2019 |
| A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly M Ishida, T Cullup, C Boustred, C James, J Docker, C English, GOSgene, ... Clinical genetics 93 (4), 870-879, 2018 | 26 | 2018 |
| Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations D Bryant, M Seda, E Peskett, C Maurer, G Pomeranz, M Ghosh, ... Scientific reports 10 (1), 13763, 2020 | 18 | 2020 |
| Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency SM McGlacken-Byrne, I Del Valle, PLQ Stabej, L Bellutti, L Garcia-Alonso, ... JCI insight 7 (5), 2022 | 12 | 2022 |
| Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted M Alsina Casanova, A Monteagudo‐Sánchez, L Rodiguez Guerineau, ... Human Mutation 38 (6), 615-620, 2017 | 12 | 2017 |
| The speech gene FOXP2 is not imprinted AC Thomas, JM Frost, M Ishida, F Vargha-Khadem, GE Moore, P Stanier Journal of Medical Genetics 49 (11), 669-670, 2012 | 11 | 2012 |
