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List of works by Alexander E Urban

1q21.1 microduplication: large verbal-nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

scientific article published on 22 August 2018

A procedure for highly specific, sensitive, and unbiased whole-genome amplification

scholarly article

Annual Research Review: The promise of stem cell research for neuropsychiatric disorders

scientific article

CNN-Peaks: ChIP-Seq peak detection pipeline using convolutional neural networks that imitate human visual inspection

scientific article published on 13 May 2020

Complex mosaic structural variations in human fetal brains

scientific article published on 29 October 2020

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.

scientific article

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562

scientific article published on 08 February 2019

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.

scientific article published on 7 December 2017

Extensive and deep sequencing of the Venter/HuRef genome for developing and benchmarking genome analysis tools

scientific article published on 18 December 2018

Extensive genetic variation in somatic human tissues

scientific article

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2

scientific article published on 01 May 2019

High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution

scientific article

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

scientific article

Hyperexcitable arousal circuits drive sleep instability during aging

scientific article published on 25 February 2022

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

scientific article

MEDME: an experimental and analytical methodology for the estimation of DNA methylation levels based on microarray derived MeDIP-enrichment.

scientific article published on 2 September 2008

Mapping copy number variation by population-scale genome sequencing

scientific article

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.

scientific article

Paired-end mapping reveals extensive structural variation in the human genome

scientific article

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

scientific article

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome

scholarly article

The NASA Twins Study: A multidimensional analysis of a year-long human spaceflight

scientific article

The current excitement about copy-number variation: how it relates to gene duplications and protein families

scientific article

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

scholarly article

Using iPSCs and genomics to catch CNVs in the act.

scientific article published on February 2015

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis

scientific article published on 30 July 2018

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