Catarina D. Campbell

发表

PureCN: copy number calling and SNV classification using targeted short read sequencing

Kun Yu, Derek Y. Chiang, Markus Riester, 2016, Source Code for Biology and Medicine.

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

Bradley P. Coe, Catarina D. Campbell, B. Coe, 2013, American journal of human genetics.

Demonstrating stratification in a European American population

Elizabeth L. Ogburn, Catarina D. Campbell, K. Lunetta, 2005, Nature Genetics.

Supplemental Material Interchromosomal core duplicons drive both evolutionary and disease instability of the Chromosome 8 p 23 . 1 region

Catarina D. Campbell, B. Coe, C. Baker, 2016 .

A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

David C. Schwartz, Can Alkan, Evan E. Eichler, 2010, Nature Genetics.

Properties and rates of germline mutations in humans.

Evan E Eichler, Catarina D. Campbell, E. Eichler, 2013, Trends in genetics : TIG.

Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

Kenneth K. Kidd, Evan E. Eichler, Laura Vives, 2012, Nature Genetics.

Human copy number variation and complex genetic disease.

Santhosh Girirajan, Evan E Eichler, Catarina D. Campbell, 2011, Annual review of genetics.

Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos.

Ryan D. Hernandez, Esteban G Burchard, Rasika A Mathias, 2015, The Journal of allergy and clinical immunology.

Estimating human mutation rate using autozygosity in a founder population

Jay Shendure, Evan E. Eichler, Laura Vives, 2012, Nature Genetics.

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

Zev N. Kronenberg, Bradley P. Coe, Catarina D. Campbell, 2016, Genome research.

ATM mutations on distinct SNP and STR haplotypes in ataxia‐telangiectasia patients of differing ethnicities reveal ancestral founder effects

Catarina D. Campbell, R. Gatti, Y. Thorstenson, 2003, Human mutation.

Five haplotypes account for fifty‐five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations

Catarina D. Campbell, C. Kim, R. Gatti, 2004, American journal of medical genetics. Part A.

Contribution and clinical relevance of germline variation to the cancer transcriptome

Joshua M. Korn, Catarina D. Campbell, Eric Y. Durand, 2022, BMC Cancer.

Reﬁnement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

Catarina D. Campbell, B. Coe, C. Baker, 2013 .

A survey of allelic imbalance in F1 mice.

Catarina D. Campbell, M. Daly, J. Hirschhorn, 2008, Genome research.

Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma

Catarina D. Campbell, J. Shendure, Niklas Krumm, 2014, PloS one.

Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate

Catarina D. Campbell, E. Monrós, R. Gatti, 2003, Human mutation.

Association Studies of BMI and Type 2 Diabetes in the Neuropeptide Y Pathway

Catarina D. Campbell, J. Hirschhorn, L. Groop, 2007, Diabetes.

Population-genetic properties of differentiated human copy-number polymorphisms.

Anya Tsalenko, Laura Vives, Peter Tsang, 2011, American journal of human genetics.

Functional Significance of Single Nucleotide Polymorphisms in the Lactase Gene in Diverse US Patients and Evidence for a Novel Lactase Persistence Allele at −13909 in Those of European Ancestry

Catarina D. Campbell, J. Hirschhorn, A. Bousvaros, 2015, Journal of pediatric gastroenterology and nutrition.

Estimating human mutation rate using autozygosity in a founder population

Peter H. Sudmant, Catarina D. Campbell, J. Shendure, 2012, Nature genetics.