| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 880 | 2017 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 744 | 2015 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 205 | 2018 |
| Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms D Antony, A Becker‐Heck, MA Zariwala, M Schmidts, A Onoufriadis, ... Human mutation 34 (3), 462-472, 2013 | 202 | 2013 |
| The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant DA Koolen, R Pfundt, K Linda, G Beunders, HE Veenstra-Knol, JH Conta, ... European Journal of Human Genetics 24 (5), 652-659, 2016 | 143 | 2016 |
| ACTB loss-of-function mutations result in a pleiotropic developmental disorder S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ... The American Journal of Human Genetics 101 (6), 1021-1033, 2017 | 107 | 2017 |
| A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect M McEntagart, KA Williamson, JK Rainger, A Wheeler, A Seawright, ... The American Journal of Human Genetics 98 (5), 981-992, 2016 | 91 | 2016 |
| EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations VRC Eggens, PG Barth, JMF Niermeijer, JN Berg, N Darin, A Dixit, J Fluss, ... Orphanet journal of rare diseases 9, 1-10, 2014 | 91 | 2014 |
| Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing KL Stals, M Wakeling, J Baptista, R Caswell, A Parrish, J Rankin, C Tysoe, ... Prenatal diagnosis 38 (1), 33-43, 2018 | 83 | 2018 |
| Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q A Dixit, KE Chandler, M Lever, RL Poole, H Bullman, MZ Mughal, ... The Journal of Clinical Endocrinology & Metabolism 98 (1), E103-E108, 2013 | 70 | 2013 |
| Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ... The American Journal of Human Genetics 104 (6), 1210-1222, 2019 | 66 | 2019 |
| Hereditary leiomyomatosis and renal cell cancer: clinical, molecular, and screening features in a cohort of 185 affected individuals C Forde, DHK Lim, Y Alwan, G Burghel, L Butland, R Cleaver, A Dixit, ... European urology oncology 3 (6), 764-772, 2020 | 63 | 2020 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 58 | 2019 |
| Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, D Rajan, ... BioRxiv, 049056, 2016 | 51 | 2016 |
| 7q11. 23 Microduplication: a recognizable phenotype A Dixit, S McKee, S Mansour, SG Mehta, GA Tanteles, V Anastasiadou, ... Clinical genetics 83 (2), 155-161, 2013 | 45 | 2013 |
| Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants L Gauquelin, FK Cayami, L Sztriha, G Yoon, LT Tran, K Guerrero, F Hocke, ... Neurology: Genetics 5 (6), e369, 2019 | 40 | 2019 |
| 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum A Dixit, C Patel, R Harrison, J Jarvis, S Hulton, N Smith, K Yates, L Silcock, ... American Journal of Medical Genetics Part A 158 (9), 2317-2321, 2012 | 36 | 2012 |
| Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita SGM Frints, F Hennig, R Colombo, S Jacquemont, P Terhal, ... Human mutation 40 (12), 2270-2285, 2019 | 33 | 2019 |
| Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome R Alharatani, A Ververi, A Beleza-Meireles, W Ji, E Mis, QT Patterson, ... Human molecular genetics 29 (11), 1900-1921, 2020 | 31 | 2020 |
| Neurologic presentation of triple A syndrome A Dixit, G Chow, A Sarkar Pediatric neurology 45 (5), 347-349, 2011 | 23 | 2011 |
