Search Results - "Appelbaum, Elizabeth"
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Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML
Published in JAMA : the journal of the American Medical Association (20-04-2011)“…CONTEXT The identification of patients with inherited cancer susceptibility syndromes facilitates early diagnosis, prevention, and treatment. However, in many…”
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Mapping and characterization of structural variation in 17,795 human genomes
Published in Nature (London) (02-07-2020)“…A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small…”
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Spatially restricted drivers and transitional cell populations cooperate with the microenvironment in untreated and chemo-resistant pancreatic cancer
Published in Nature genetics (01-09-2022)“…Pancreatic ductal adenocarcinoma is a lethal disease with limited treatment options and poor survival. We studied 83 spatial samples from 31 patients (11…”
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Genome remodelling in a basal-like breast cancer metastasis and xenograft
Published in Nature (London) (15-04-2010)“…Massively parallel DNA sequencing technologies provide an unprecedented ability to screen entire genomes for genetic changes associated with tumour…”
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De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population
Published in Proceedings of the National Academy of Sciences - PNAS (04-02-2020)“…De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose…”
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Models for Growth
Published in The College mathematics journal (01-09-2001)“…Almost all calculus textbooks contain a specific model of exponential growth, with solution "y = y0ekx. A good exercise for students is to find what value of…”
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Author Correction: The landscape of viral associations in human cancers
Published in Nature genetics (01-06-2023)Get full text
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Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers
Published in Nature genetics (01-06-2023)Get full text
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Author Correction: The evolutionary history of 2,658 cancers
Published in Nature (London) (16-02-2023)Get full text
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Human whole-exome genotype data for Alzheimer’s disease
Published in Nature communications (23-01-2024)“…The heterogeneity of the whole-exome sequencing (WES) data generation methods present a challenge to a joint analysis. Here we present a bioinformatics…”
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A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease
Published in Alzheimer's & dementia (01-03-2019)“…The genetic architecture of Alzheimer's disease (AD) is only partially understood. We conducted an association study for AD using whole sequence data from 507…”
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Teaching Mathematics Online
Published in The Mathematics teacher (01-11-2016)“…The editors of the focus issue discuss the articles surrounding the topic Teaching Mathematics Online…”
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THE ALZHEIMER’S DISEASE SEQUENCING PROJECT (ADSP) DATA UPDATE 2018
Published in Alzheimer's & dementia (01-07-2018)Get full text
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P1‐149: THE ALZHEIMER'S DISEASE SEQUENCING PROJECT (ADSP) DATA UPDATE 2018
Published in Alzheimer's & dementia (01-07-2018)Get full text
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Differential chromatin accessibility and transcriptional dynamics define breast cancer subtypes and their lineages
Published in Nature cancer (30-10-2024)“…Breast cancer (BC) is defined by distinct molecular subtypes with different cells of origin. The transcriptional networks that characterize the…”
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A SIMULATION TO MODEL EXPONENTIAL GROWTH
Published in The Mathematics teacher (01-10-2000)“…Describes a simulation using dice-tossing students in a population cluster to model the growth of cancer cells. This growth is recorded in a scatterplot and…”
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THE ALZHEIMER’S DISEASE SEQUENCING PROJECT (ADSP) DATA UPDATE 2017
Published in Alzheimer's & dementia (01-07-2017)Get full text
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The characterization of the Phlebotomus papatasi transcriptome
Published in Insect molecular biology (01-04-2013)“…As important vectors of human disease, phlebotomine sand flies are of global significance to human health, transmitting several emerging and re‐emerging…”
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Models for Growth
Published in The College mathematics journal (01-09-2001)Get full text
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