| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 1025 | 2017 |
| Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus YJ Crow, BE Hayward, R Parmar, P Robins, A Leitch, M Ali, DN Black, ... Nature genetics 38 (8), 917-920, 2006 | 998 | 2006 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 816 | 2015 |
| Mutations in SOX2 cause anophthalmia J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin, ... Nature genetics 33 (4), 462-463, 2003 | 639 | 2003 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 495 | 2007 |
| Task shifting in HIV/AIDS: opportunities, challenges and proposed actions for sub-Saharan Africa R Zachariah, N Ford, M Philips, S Lynch, M Massaquoi, V Janssens, ... Transactions of the Royal Society of Tropical Medicine and Hygiene 103 (6 …, 2009 | 487 | 2009 |
| Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia C Bergmann, M Fliegauf, NO Brüchle, V Frank, H Olbrich, J Kirschner, ... The American Journal of Human Genetics 82 (4), 959-970, 2008 | 392 | 2008 |
| Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome P Gissen, CA Johnson, NV Morgan, JM Stapelbroek, T Forshew, ... Nature genetics 36 (4), 400-404, 2004 | 375 | 2004 |
| A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis AJ Ross, V Ruiz-Perez, Y Wang, DM Hagan, S Scherer, SA Lynch, ... Nature genetics 20 (4), 358-361, 1998 | 344 | 1998 |
| Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy F Kyndt, JP Gueffet, V Probst, P Jaafar, A Legendre, F Le Bouffant, ... Circulation 115 (1), 40-49, 2007 | 339 | 2007 |
| RAD21 mutations cause a human cohesinopathy MA Deardorff, JJ Wilde, M Albrecht, E Dickinson, S Tennstedt, ... The American Journal of Human Genetics 90 (6), 1014-1027, 2012 | 332 | 2012 |
| Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location JP Cheadle, H Gill, N Fleming, J Maynard, A Kerr, H Leonard, ... Human molecular genetics 9 (7), 1119-1129, 2000 | 330 | 2000 |
| 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 | 305 | 2015 |
| Population based, prospective study of the care of women with epilepsy in pregnancy SD Fairgrieve, M Jackson, P Jonas, D Walshaw, K White, TL Montgomery, ... Bmj 321 (7262), 674-675, 2000 | 268 | 2000 |
| Autosomal dominant sacral agenesis: Currarino syndrome SA Lynch, Y Wang, T Strachan, J Burn, S Lindsay Journal of medical genetics 37 (8), 561-566, 2000 | 261 | 2000 |
| Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ... The American Journal of Human Genetics 89 (1), 7-14, 2011 | 245 | 2011 |
| 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 | 238 | 2018 |
| Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis VP Sharma, AL Fenwick, MS Brockop, SJ McGowan, JAC Goos, ... Nature genetics 45 (3), 304-307, 2013 | 231 | 2013 |
| Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion NM Allen, J Conroy, A Shahwan, B Lynch, RG Correa, SDJ Pena, ... Epilepsia 57 (1), e12-e17, 2016 | 207 | 2016 |
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ... European Journal of Human Genetics 20 (4), 381-388, 2012 | 205 | 2012 |
Sean EnnisВерификована је имејл адреса на ucd.ie