| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein GDJ Watts, J Wymer, MJ Kovach, SG Mehta, S Mumm, D Darvish, ... Nature genetics 36 (4), 377-381, 2004 | 1646 | 2004 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 1008 | 2017 |
| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 864 | 2008 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 808 | 2015 |
| Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study J Lord, DJ McMullan, RY Eberhardt, G Rinck, SJ Hamilton, ... The Lancet 393 (10173), 747-757, 2019 | 590 | 2019 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 522 | 2021 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 463 | 2017 |
| Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ... The American Journal of Human Genetics 84 (6), 780-791, 2009 | 461 | 2009 |
| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 303 | 2015 |
| Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease EM Jenkinson, AU Rehman, T Walsh, J Clayton-Smith, K Lee, RJ Morell, ... The American Journal of Human Genetics 92 (4), 605-613, 2013 | 249 | 2013 |
| 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 | 235 | 2018 |
| Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome VE Kimonis, SG Mehta, JJ Digiovanna, SJ Bale, B Pastakia Genetics in medicine 6 (6), 495-502, 2004 | 224 | 2004 |
| Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), eaau6520, 2019 | 212 | 2019 |
| Mutant valosin‐containing protein causes a novel type of frontotemporal dementia R Schröder, GDJ Watts, SG Mehta, BO Evert, P Broich, K Fließbach, ... Annals of neurology 57 (3), 457-461, 2005 | 207 | 2005 |
| Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia VE Kimonis, SG Mehta, EC Fulchiero, D Thomasova, M Pasquali, ... American journal of medical genetics Part A 146 (6), 745-757, 2008 | 202 | 2008 |
| Quantifying the contribution of recessive coding variation to developmental disorders HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade, M Sanderson, ... Science 362 (6419), 1161-1164, 2018 | 195 | 2018 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 189 | 2014 |
| Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ... Journal of medical genetics 51 (10), 659-668, 2014 | 187 | 2014 |
| Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia GDJ Watts, D Thomasova, SK Ramdeen, EC Fulchiero, SG Mehta, ... Clinical genetics 72 (5), 420-426, 2007 | 161 | 2007 |
| A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 D Schepers, G Tortora, H Morisaki, G MacCarrick, M Lindsay, D Liang, ... Human mutation 39 (5), 621-634, 2018 | 156 | 2018 |
