List of works by Jeffrey R MacDonald

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

scientific article published in January 2018

A copy number variation map of the human genome

scientific article

A high-resolution copy-number variation resource for clinical and population genetics

scientific article published on 11 December 2014

A large data resource of genomic copy number variation across neurodevelopmental disorders

scientific article published on 07 October 2019

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis

scientific article published on 20 November 2017

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

scientific article (publication date: 8 May 2011)

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

scientific article

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.

scientific article published on 23 January 2014

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies

scientific article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

article

Genome assembly comparison identifies structural variants in the human genome.

scientific article

Genome-wide characteristics of de novo mutations in autism

scientific article published on August 2016

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

scientific article

Global variation in copy number in the human genome

scientific article

Human chromosome 7: DNA sequence and biology

scientific article

Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

scientific article

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

scientific article

Mechanisms of formation of structural variation in a fully sequenced human genome

scientific article published on 19 November 2012

Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes

scientific article

Molecular characterization of a t(2;7) translocation linking CDK6 to the IGK locus in CD5(-) monoclonal B-cell lymphocytosis.

scientific article

Origins and functional impact of copy number variation in the human genome

scientific article (publication date: April 2010)

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

scientific article published on 10 January 2014

Recent segmental and gene duplications in the mouse genome

scientific article

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

scientific article published on 29 October 2013

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

scientific article published in February 2018

The diploid genome sequence of an individual human

scientific article published on 4 September 2007

Towards a comprehensive structural variation map of an individual human genome

scientific article

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

scientific article published on 6 March 2017

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