Catarina D. Campbell
Catarina D. Campbell
Investigator, Novartis Institutes for BioMedical Research
Verified email at
Cited by
Cited by
Demonstrating stratification in a European American population
CD Campbell, EL Ogburn, KL Lunetta, HN Lyon, ML Freedman, LC Groop, ...
Nature genetics 37 (8), 868-872, 2005
Profiling critical cancer gene mutations in clinical tumor samples
LE MacConaill, CD Campbell, SM Kehoe, AJ Bass, C Hatton, L Niu, ...
PloS one 4 (11), e7887, 2009
Human copy number variation and complex genetic disease
S Girirajan, CD Campbell, EE Eichler
Annual review of genetics 45, 203-226, 2011
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
S Girirajan, MY Dennis, C Baker, M Malig, BP Coe, CD Campbell, K Mark, ...
The American Journal of Human Genetics 92 (2), 221-237, 2013
Properties and rates of germline mutations in humans
CD Campbell, EE Eichler
Trends in Genetics 29 (10), 575-584, 2013
Estimating the human mutation rate using autozygosity in a founder population
CD Campbell, JX Chong, M Malig, A Ko, BL Dumont, L Han, L Vives, ...
Nature genetics 44 (11), 1277-1281, 2012
Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism
GM Mirzaa, CD Campbell, N Solovieff, CP Goold, LA Jansen, S Menon, ...
JAMA neurology 73 (7), 836-845, 2016
Structural diversity and African origin of the 17q21. 31 inversion polymorphism
KM Steinberg, F Antonacci, PH Sudmant, JM Kidd, CD Campbell, L Vives, ...
Nature genetics 44 (8), 872-880, 2012
Population-genetic properties of differentiated human copy-number polymorphisms
CD Campbell, N Sampas, A Tsalenko, PH Sudmant, JM Kidd, M Malig, ...
The American Journal of Human Genetics 88 (3), 317-332, 2011
A large and complex structural polymorphism at 16p12. 1 underlies microdeletion disease risk
F Antonacci, JM Kidd, T Marques-Bonet, B Teague, M Ventura, S Girirajan, ...
Nature genetics 42 (9), 745-750, 2010
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate
M Mitui, C Campbell, G Coutinho, X Sun, CH Lai, Y Thorstenson, ...
Human mutation 22 (1), 43-50, 2003
Tracking the evolution of resistance to ALK tyrosine kinase inhibitors through longitudinal analysis of circulating tumor DNA
I Dagogo-Jack, AR Brannon, LA Ferris, CD Campbell, JJ Lin, KR Schultz, ...
JCO precision oncology 2, 1-14, 2018
Association studies of BMI and type 2 diabetes in the neuropeptide Y pathway: a possible role for NPY2R as a candidate gene for type 2 diabetes in men
CD Campbell, HN Lyon, J Nemesh, JA Drake, T Tuomi, D Gaudet, X Zhu, ...
Diabetes 56 (5), 1460-1467, 2007
ATM mutations on distinct SNP and STR haplotypes in ataxia‐telangiectasia patients of differing ethnicities reveal ancestral founder effects
C Campbell, M Mitui, L Eng, G Coutinho, Y Thorstenson, RA Gatti
Human mutation 21 (1), 80-85, 2003
Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos
M Pino-Yanes, CR Gignoux, JM Galanter, AM Levin, CD Campbell, C Eng, ...
Journal of Allergy and Clinical Immunology 135 (6), 1502-1510, 2015
PureCN: copy number calling and SNV classification using targeted short read sequencing
M Riester, AP Singh, AR Brannon, K Yu, CD Campbell, DY Chiang, ...
Source code for biology and medicine 11 (1), 13, 2016
Five haplotypes account for fifty‐five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations
G Coutinho, M Mitui, C Campbell, BT Costa Carvalho, S Nahas, X Sun, ...
American Journal of Medical Genetics Part A 126 (1), 33-40, 2004
A survey of allelic imbalance in F1 mice
CD Campbell, A Kirby, J Nemesh, MJ Daly, JN Hirschhorn
Genome research 18 (4), 555-563, 2008
Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma
CD Campbell, K Mohajeri, M Malig, F Hormozdiari, B Nelson, G Du, ...
PLoS One 9 (8), e104396, 2014
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23. 1 region
K Mohajeri, S Cantsilieris, J Huddleston, BJ Nelson, BP Coe, ...
Genome research 26 (11), 1453-1467, 2016
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