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Properties and rates of germline mutations in humans

Trends in genetics, 2013-10, Vol.29 (10), p.575-584

2013

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Human Copy Number Variation and Complex Genetic Disease

Annual review of genetics, 2011-01, Vol.45 (1), p.203-226

2011

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

American journal of human genetics, 2013-02, Vol.92 (2), p.221-237

2013

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A benchmark of computational methods for correcting biases of established and unknown origin in CRISPR-Cas9 screening data

Genome Biology, 2024-07, Vol.25 (1), p.1-25, Article 192

2024

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Combined PD-1, BRAF and MEK inhibition in advanced BRAF-mutant melanoma: safety run-in and biomarker cohorts of COMBI-i

Nature medicine, 2020-10, Vol.26 (10), p.1557-1563

2020

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TET2-Driven Clonal Hematopoiesis and Response to Canakinumab: An Exploratory Analysis of the CANTOS Randomized Clinical Trial

JAMA cardiology, 2022-05, Vol.7 (5), p.521

2022

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Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer

Nature communications, 2021-05, Vol.12 (1), p.3199-13, Article 3199

2021

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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

JAMA neurology, 2016-07, Vol.73 (7), p.836

2016

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Contribution and clinical relevance of germline variation to the cancer transcriptome

BMC cancer, 2022-06, Vol.22 (1), p.1-675, Article 675

2022

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Combined PD-1, BRAF and MEK inhibition in BRAFV600E colorectal cancer: a phase 2 trial

Nature medicine, 2023-02, Vol.29 (2), p.458-466

2023

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Clonal hematopoiesis detection in patients with cancer using cell-free DNA sequencing

Science translational medicine, 2023-03, Vol.15 (689), p.eabm8729

2023

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Estimating the human mutation rate using autozygosity in a founder population

Nature genetics, 2012-11, Vol.44 (11), p.1277-1281

2012

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

Source code for biology and medicine, 2016-12, Vol.11 (1), p.13-13, Article 13

2016

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BRAF -Mutant Transcriptional Subtypes Predict Outcome of Combined BRAF, MEK, and EGFR Blockade with Dabrafenib, Trametinib, and Panitumumab in Patients with Colorectal Cancer

Clinical cancer research, 2020-06, Vol.26 (11), p.2466-2476

2020

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Structural diversity and African origin of the 17q21.31 inversion polymorphism

Nature genetics, 2012-08, Vol.44 (8), p.872-880

2012

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Molecular response in newly diagnosed chronic-phase chronic myeloid leukemia: prediction modeling and pathway analysis

Haematologica (Roma), 2023-06, Vol.108 (6), p.1567

2023

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Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

American journal of human genetics, 2011-03, Vol.88 (3), p.317-332

2011

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

Genome research, 2016-11, Vol.26 (11), p.1453

2016

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Demonstrating stratification in a European American population

Nature genetics, 2005-08, Vol.37 (8), p.868-872

2005

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Next‐generation sequencing of baseline genetic mutations and outcomes of eltrombopag and azacitidine therapy in patients with myelodysplastic syndromes and thrombocytopenia: Data from the SUPPORT clinical trial

EJHaem, 2023-08, Vol.4 (3), p.876-881

2023

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

Nature genetics, 2010-09, Vol.42 (9), p.745-750

2010

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

Journal of allergy and clinical immunology, 2015-06, Vol.135 (6), p.1502-1510

2015

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Properties and rates of germline mutations in humans

Human Copy Number Variation and Complex Genetic Disease

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

A benchmark of computational methods for correcting biases of established and unknown origin in CRISPR-Cas9 screening data

Combined PD-1, BRAF and MEK inhibition in advanced BRAF-mutant melanoma: safety run-in and biomarker cohorts of COMBI-i

TET2-Driven Clonal Hematopoiesis and Response to Canakinumab: An Exploratory Analysis of the CANTOS Randomized Clinical Trial

Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer

Profiling critical cancer gene mutations in clinical tumor samples

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Contribution and clinical relevance of germline variation to the cancer transcriptome

Combined PD-1, BRAF and MEK inhibition in BRAFV600E colorectal cancer: a phase 2 trial

Clonal hematopoiesis detection in patients with cancer using cell-free DNA sequencing

Estimating the human mutation rate using autozygosity in a founder population

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

Initial Evidence for the Efficacy of Naporafenib in Combination With Trametinib in NRAS -Mutant Melanoma: Results From the Expansion Arm of a Phase Ib, Open-Label Study

BRAF -Mutant Transcriptional Subtypes Predict Outcome of Combined BRAF, MEK, and EGFR Blockade with Dabrafenib, Trametinib, and Panitumumab in Patients with Colorectal Cancer

Structural diversity and African origin of the 17q21.31 inversion polymorphism

Molecular response in newly diagnosed chronic-phase chronic myeloid leukemia: prediction modeling and pathway analysis

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

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

Demonstrating stratification in a European American population

Next‐generation sequencing of baseline genetic mutations and outcomes of eltrombopag and azacitidine therapy in patients with myelodysplastic syndromes and thrombocytopenia: Data from the SUPPORT clinical trial

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma

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

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

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