Follow
Lucy Osborne
Lucy Osborne
Professor of Medicine, University of Toronto
Verified email at utoronto.ca
Title
Cited by
Cited by
Year
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
3952001
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
3682005
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
2852015
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
2682003
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
2622005
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
2452006
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
2402003
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
2092003
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
1992000
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
1762013
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
1741990
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
1672006
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
1662008
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
1521996
Williams syndrome
BA Kozel, B Barak, CA Kim, CB Mervis, LR Osborne, M Porter, BR Pober
Nature Reviews Disease Primers 7 (1), 42, 2021
1462021
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
1442008
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
1362016
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
1361999
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
1351991
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
1222015
The system can't perform the operation now. Try again later.
Articles 1–20