|FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity|
M Fanciulli, PJ Norsworthy, E Petretto, R Dong, L Harper, L Kamesh, ...
Nature genetics 39 (6), 721-723, 2007
|A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2|
RG Walters, S Jacquemont, A Valsesia, AJ De Smith, D Martinet, ...
Nature 463 (7281), 671-675, 2010
|A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism|
AJ de Smith, C Purmann, RG Walters, RJ Ellis, SE Holder, MM Van Haelst, ...
Human molecular genetics 18 (17), 3257-3265, 2009
|Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases|
AJ De Smith, A Tsalenko, N Sampas, A Scheffer, NA Yamada, P Tsang, ...
Human molecular genetics 16 (23), 2783-2794, 2007
|Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly|
Y Li, H Zheng, R Luo, H Wu, H Zhu, R Li, H Cao, B Wu, S Huang, H Shao, ...
Nature biotechnology 29 (8), 723-730, 2011
|PDGFRα demarcates the cardiogenic clonogenic Sca1+ stem/progenitor cell in adult murine myocardium|
M Noseda, M Harada, S McSweeney, T Leja, E Belian, DJ Stuckey, ...
Nature communications 6 (1), 1-16, 2015
|A global DNA methylation and gene expression analysis of early human B-cell development reveals a demethylation signature and transcription factor network|
ST Lee, Y Xiao, MO Muench, J Xiao, ME Fomin, JK Wiencke, S Zheng, ...
Nucleic acids research 40 (22), 11339-11351, 2012
|Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease|
AJ De Smith, RG Walters, P Froguel, AI Blakemore
Cytogenetic and genome research 123 (1-4), 17-26, 2008
|Small deletion variants have stable breakpoints commonly associated with alu elements|
AJ De Smith, RG Walters, LJM Coin, I Steinfeld, Z Yakhini, R Sladek, ...
PloS one 3 (8), e3104, 2008
|GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24. 21|
JL Wiemels, KM Walsh, AJ de Smith, C Metayer, S Gonseth, HM Hansen, ...
Nature communications 9 (1), 1-8, 2018
|Cortical Lewy bodies and Aβ burden are associated with prevalence and timing of dementia in Lewy body diseases|
C Ruffmann, FCF Calboli, I Bravi, D Gveric, LK Curry, A De Smith, ...
Neuropathology and applied neurobiology 42 (5), 436-450, 2016
|Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletion|
K Martins-Taylor, JS Hsiao, PF Chen, H Glatt-Deeley, AJ De Smith, ...
Human molecular genetics 23 (9), 2364-2373, 2014
|cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs|
LJM Coin, JE Asher, RG Walters, JSES Moustafa, AJ De Smith, R Sladek, ...
Nature methods 7 (7), 541-546, 2010
|Associations between genome-wide Native American ancestry, known risk alleles and B-cell ALL risk in Hispanic children|
KM Walsh, AP Chokkalingam, LI Hsu, C Metayer, AJ De Smith, DI Jacobs, ...
Leukemia 27 (12), 2416-2419, 2013
|Genetic variation associated with longer telomere length increases risk of chronic lymphocytic leukemia|
J Ojha, V Codd, CP Nelson, NJ Samani, IV Smirnov, NR Madsen, ...
Cancer Epidemiology and Prevention Biomarkers 25 (7), 1043-1049, 2016
|Common genetic variants associated with telomere length confer risk for neuroblastoma and other childhood cancers|
KM Walsh, TP Whitehead, AJ de Smith, IV Smirnov, M Park, AA Endicott, ...
Carcinogenesis 37 (6), 576-582, 2016
|Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity|
RG Walters, LJM Coin, A Ruokonen, AJ de Smith, JSES Moustafa, ...
PloS one 8 (3), e58048, 2013
|The role of KIR genes and their cognate HLA class I ligands in childhood acute lymphoblastic leukemia|
AJ de Smith, KM Walsh, MB Ladner, S Zhang, C Xiao, F Cohen, TB Moore, ...
Blood, The Journal of the American Society of Hematology 123 (16), 2497-2503, 2014
|Novel childhood ALL susceptibility locus BMI1-PIP4K2A is specifically associated with the hyperdiploid subtype|
KM Walsh, AJ de Smith, AP Chokkalingam, C Metayer, GV Dahl, L Hsu, ...
Blood 121 (23), 4808-4809, 2013
|Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity|
JS El-Sayed Moustafa, H Eleftherohorinou, AJ de Smith, ...
Human molecular genetics 21 (16), 3727-3738, 2012