A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome LR Osborne, M Li, B Pober, D Chitayat, J Bodurtha, A Mandel, T Costa, ... Nature genetics 29 (3), 321-325, 2001 | 395 | 2001 |
Severe expressive-language delay related to duplication of the Williams–Beuren locus MJ Somerville, CB Mervis, EJ Young, EJ Seo, M Del Campo, S Bamforth, ... New England Journal of Medicine 353 (16), 1694-1701, 2005 | 368 | 2005 |
Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity J Ellegood, E Anagnostou, BA Babineau, JN Crawley, L Lin, M Genestine, ... Molecular psychiatry 20 (1), 118-125, 2015 | 285 | 2015 |
Human chromosome 7: DNA sequence and biology SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ... Science 300 (5620), 767-772, 2003 | 268 | 2003 |
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia AM Flenniken, LR Osborne, N Anderson, N Ciliberti, C Fleming, ... Oxford University Press for The Company of Biologists Limited 132 (19), 4375 …, 2005 | 262 | 2005 |
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug, K Nakabayashi, ... The American Journal of Human Genetics 79 (5), 965-972, 2006 | 245 | 2006 |
Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis MA Crackower, NK Kolas, J Noguchi, R Sarao, K Kikuchi, H Kaneko, ... Science 300 (5623), 1291-1295, 2003 | 240 | 2003 |
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype–phenotype analysis of five families with deletions in the Williams syndrome region CA Morris, CB Mervis, HH Hobart, RG Gregg, J Bertrand, GJ Ensing, ... American journal of medical genetics Part A 123 (1), 45-59, 2003 | 209 | 2003 |
Elastin: mutational spectrum in supravalvular aortic stenosis K Metcalfe, AK Rucka, L Smoot, G Hofstadler, G Tuzler, P McKeown, V Siu, ... European journal of human genetics 8 (12), 955-963, 2000 | 199 | 2000 |
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ... The American Journal of Human Genetics 92 (2), 210-220, 2013 | 176 | 2013 |
Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis G Santis, L Osborne, RA Knight, ME Hodson The Lancet 336 (8723), 1081-1084, 1990 | 174 | 1990 |
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2 S Zeesman, MJM Nowaczyk, I Teshima, W Roberts, JO Cardy, J Brian, ... American Journal of Medical Genetics Part A 140 (5), 509-514, 2006 | 167 | 2006 |
Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1‐targeted mice EJ Young, T Lipina, E Tam, A Mandel, SJ Clapcote, AR Bechard, ... Genes, Brain and Behavior 7 (2), 224-234, 2008 | 166 | 2008 |
Identification of genes from a 500-kb region at 7q11. 23 that is commonly deleted in Williams syndrome patients LR Osborne, D Martindale, SW Scherer, XM Shi, J Huizenga, HHQ Heng, ... Genomics 36 (2), 328-336, 1996 | 152 | 1996 |
Williams syndrome BA Kozel, B Barak, CA Kim, CB Mervis, LR Osborne, M Porter, BR Pober Nature Reviews Disease Primers 7 (1), 42, 2021 | 146 | 2021 |
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11. 23-q21. 11 CR Marshall, EJ Young, AM Pani, ML Freckmann, Y Lacassie, C Howald, ... The American Journal of Human Genetics 83 (1), 106-111, 2008 | 144 | 2008 |
A predictive metabolic signature for the transition from gestational diabetes mellitus to type 2 diabetes A Allalou, A Nalla, KJ Prentice, Y Liu, M Zhang, FF Dai, X Ning, ... Diabetes 65 (9), 2529-2539, 2016 | 136 | 2016 |
Detection of an atypical 7q11. 23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes A Botta, G Novelli, A Mari, A Novelli, M Sabani, J Korenberg, LR Osborne, ... Journal of medical genetics 36 (6), 478-480, 1999 | 136 | 1999 |
A mutation in the second nucleotide binding fold of the cystic fibrosis gene. L Osborne, R Knight, G Santis, M Hodson American journal of human genetics 48 (3), 608, 1991 | 135 | 1991 |
7q11. 23 Duplication syndrome: Physical characteristics and natural history CA Morris, CB Mervis, AP Paciorkowski, O Abdul‐Rahman, SL Dugan, ... American journal of medical genetics Part A 167 (12), 2916-2935, 2015 | 122 | 2015 |