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Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes
by Chapuy, Bjoern
Nature medicine, 2018, Vol.24 (5), p.679-690
2.
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
by Pinto, Dalila
American journal of human genetics, 2014, Vol.94 (5), p.677-694
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Genomic copy number predicts esophageal cancer years before transformation
by Killcoyne, Sarah
Nature medicine, 2020, Vol.26 (11), p.1726-1732
4.
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome
by Huang, Alden Y
Neuron (Cambridge, Mass.), 2017, Vol.94 (6), p.1101-1111.e7
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The Genetic Landscapes of Autism Spectrum Disorders
by Huguet, Guillaume
Annual review of genomics and human genetics, 2013, Vol.14 (1), p.191-213
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Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation
by Koren, Amnon
American journal of human genetics, 2012, Vol.91 (6), p.1033-1040
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Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
by Sanna-Cherchi, Simone
American journal of human genetics, 2012, Vol.91 (6), p.987-997
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DNA methylation-based classification and grading system for meningioma: a multicentre, retrospective analysis
by Sahm, Felix, MD
The lancet oncology, 2017, Vol.18 (5), p.682-694
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Engineered promoters enable constant gene expression at any copy number in bacteria
by Segall-Shapiro, Thomas H
Nature biotechnology, 2018, Vol.36 (4), p.352-358
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Estimates of penetrance for recurrent pathogenic copy-number variations
by Rosenfeld, Jill A.
Genetics in medicine, 2013, Vol.15 (6), p.478-481
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
by Stray-Pedersen, Asbjørg, MD, PhD
Journal of allergy and clinical immunology, 2016, Vol.139 (1), p.232-245
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Utility of ctDNA to support patient selection for early phase clinical trials: the TARGET study
by Rothwell, Dominic G
Nature medicine, 2019, Vol.25 (5), p.738-743
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A surrogate marker of piperaquine-resistant Plasmodium falciparum malaria: a phenotype–genotype association study
by Witkowski, Benoit, PhD
The Lancet infectious diseases, 2016, Vol.17 (2), p.174-183
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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
by Trost, Brett
American journal of human genetics, 2018, Vol.102 (1), p.142-155
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Molecular analysis of circulating tumor cells identifies distinct copy-number profiles in patients with chemosensitive and chemorefractory small-cell lung cancer
by Carter, Louise
Nature medicine, 2017, Vol.23 (1), p.114-119
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A single-cell landscape of high-grade serous ovarian cancer
by Izar, Benjamin
Nature medicine, 2020, Vol.26 (8), p.1271-1279
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Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
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Identification of the copy number variant biomarkers for breast cancer subtypes
by Pan, Xiaoyong
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A High-Resolution Copy Number Variation Resource for Clinical and Population Genetics
by Uddin, Mohammed Mohammed
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Human Copy Number Variation and Complex Genetic Disease
by Girirajan, Santhosh
Annual review of genetics, 2011, Vol.45 (1), p.203-226
