Jeffrey R. MacDonald

14.9k citations

18 papers · 2.5k indexed · 2 hit papers · h-index 16

Genetics top 1%
Molecular Biology top 5%
Plant Science top 5%
Cancer Research top 5%
Pediatrics, Perinatology and Child Health top 5%

Co-authors: Stephen W. Scherer Lars Feuk Ryan K. C. Yuen Daniele Merico Mehdi Zarrei Razi Khaja Joseph Cheung Xavier Estivill
Topics: Genomic variations and chromosomal abnormalities (12 papers)Chromosomal and Genetic Variations (9 papers)Genomics and Phylogenetic Studies (8 papers)
Cited by: Genetics Cancer Research Molecular Biology
Journals: Nucleic Acids Research Nature Genetics Nature Reviews Genetics
Partner nations: Canada United States Sweden

In The Last Decade

Jeffrey R. MacDonald

18 papers receiving 2.4k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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

2013 814 citations Jeffrey R. MacDonald, Ryan K. C. Yuen et al. Nucleic Acids Research profile →
A copy number variation map of the human genome

2015 558 citations Mehdi Zarrei, Jeffrey R. MacDonald et al. Nature Reviews Genetics profile →

Peers

Countries citing papers authored by Jeffrey R. MacDonald

Since Specialization

Citations

This map shows the geographic impact of Jeffrey R. MacDonald's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Jeffrey R. MacDonald with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Jeffrey R. MacDonald more than expected).

Fields of papers citing papers by Jeffrey R. MacDonald

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jeffrey R. MacDonald. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Jeffrey R. MacDonald. The network helps show where Jeffrey R. MacDonald may publish in the future.

Co-authorship network of co-authors of Jeffrey R. MacDonald

This figure shows the co-authorship network connecting the top 25 collaborators of Jeffrey R. MacDonald. A scholar is included among the top collaborators of Jeffrey R. MacDonald based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Jeffrey R. MacDonald. Jeffrey R. MacDonald is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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18 of 18 papers shown

#	Work	Indexed citations
1	A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data 2018 ·The American Journal of Human Genetics ·Brett Trost,Susan Walker,Zhuozhi Wang,Bhooma Thiruvahindrapuram,Jeffrey R. MacDonald,Wilson W. L. Sung,Sérgio L. Pereira,J. Andrew Whitney,Ada J. S. Chan,Giovanna Pellecchia,Miriam S. Reuter,Si Lok,Ryan K. C. Yuen,Christian R. Marshall,Daniele Merico,Stephen W. Scherer	112
2	Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta‐analysis 2017 ·American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Yanqing Zhang,Yi Liu,Mehdi Zarrei,(unknown),Rui Dong,Ying Wang,Haiyan Zhang,Xiaomeng Yang,Jeffrey R. MacDonald,Mohammed Uddin,Stephen W. Scherer,(unknown)	19
3	A copy number variation map of the human genomebreakdown → 2015 ·Nature Reviews Genetics ·Mehdi Zarrei,Jeffrey R. MacDonald,Daniele Merico,Stephen W. Scherer	558
4	Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis 2014 ·Fertility and Sterility ·Ryan K. C. Yuen,(unknown),Jeffrey R. MacDonald,(unknown),Kirk Lo,Ethan D. Grober,Christian R. Marshall,Keith Jarvi,Elena Kolomietz,Stephen W. Scherer	27
5	Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum 2013 ·G3 Genes Genomes Genetics ·Andy Wing Chun Pang,Jeffrey R. MacDonald,Ryan K. C. Yuen,Vanessa M. Hayes,Stephen W. Scherer	15
6	The Database of Genomic Variants: a curated collection of structural variation in the human genomebreakdown → 2013 ·Nucleic Acids Research ·Jeffrey R. MacDonald,(unknown),Ryan K. C. Yuen,Lars Feuk,Stephen W. Scherer	814
7	Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome 2012 ·Human Mutation ·Andy Wing Chun Pang,Ohsuke Migita,Jeffrey R. MacDonald,Lars Feuk,Stephen W. Scherer	31
8	Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions 2011 ·Journal of Medical Genetics ·(unknown),Ya‐Wen He,Christian R. Marshall,Raymond Wong,Jeffrey R. MacDonald,Ciara Fahey,David Chitayat,Kathy Chun,Greg Ryan,Anne Summers,E.J.T. Winsor,Stephen W. Scherer	9
9	Molecular characterization of a t(2;7) translocation linking CDK6 to the IGK locus in CD5− monoclonal B-cell lymphocytosis 2011 ·Cancer Genetics ·Edward P K Parker,Jeffrey R. MacDonald,Chen Wang	7
10	Towards a comprehensive structural variation map of an individual human genome 2010 ·Genome biology ·Andy Wing Chun Pang,Jeffrey R. MacDonald,Dalila Pinto,John Wei,Muhammad Rafiq,Donald F. Conrad,Hansoo Park,Matthew E. Hurles,Charles Lee,J. Craig Venter,Ewen F. Kirkness,Samuel Lévy,Lars Feuk,Stephen W. Scherer	214
11	Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping 2009 ·Journal of Medical Genetics ·(unknown),Swantje Held,Anna Dı́az-Font,Erica E. Davis,Bill H. Diplas,Richard A. Lewis,Zvi Borochowitz,Weibin Zhou,Moumita Chaki,Jeffrey R. MacDonald,Hülya Kayserili,Phil Beales,Nicholas Katsanis,Edgar A. Otto,Friedhelm Hildebrandt	60
12	Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse 2007 ·BMC Genomics ·(unknown),Jeffrey R. MacDonald,(unknown),(unknown),Kimberly Lau,Christopher Kandel,(unknown),(unknown),Stephen W. Scherer,Benjamin A. Alman	75
13	Genome assembly comparison identifies structural variants in the human genome 2006 ·Nature Genetics ·Razi Khaja,Junjun Zhang,Jeffrey R. MacDonald,Yongshu He,(unknown),John Wei,Muhammad Rafiq,Qian Cheng,Mary Shago,Lorena Pantano,Hiroyuki Aburatani,Keith Jones,Richard Redon,Matthew E. Hurles,Lluı́s Armengol,Xavier Estivill,Richard Mural,Charles Lee,Stephen W. Scherer,Lars Feuk	113
14	Methods for Identifying and Mapping Recent Segmental and Gene Duplications in Eukaryotic Genomes 2006 ·Humana Press eBooks ·Razi Khaja,Jeffrey R. MacDonald,Junjun Zhang,Stephen W. Scherer	16
15	Discovery of Human Inversion Polymorphisms by Comparative Analysis of Human and Chimpanzee DNA Sequence Assemblies 2005 ·PLoS Genetics ·Lars Feuk,Jeffrey R. MacDonald,Terence Tang,Andrew R. Carson,Martin Li,(unknown),Razi Khaja,Stephen W. Scherer	118
16	Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy 2005 ·The American Journal of Human Genetics ·Kazuhiko Nakabayashi,(unknown),Yan Ren,Ulpu Saarialho‐Kere,Nili Avidan,S. Gentles,Jeffrey R. MacDonald,Erik G. Puffenberger,Angela M. Christiano,Amalia Martı́nez-Mir,Julio C. Salas‐Alanís,Renata Rizzo,Esther Vamos,Anja Raams,Clifford Les,Eric Seboun,Nicolaas G.J. Jaspers,J. Beckmann,Charles E. Jackson,Stephen W. Scherer	55
17	Recent segmental and gene duplications in the mouse genome 2003 ·Genome biology ·Joseph Cheung,Michael D. Wilson,Junjun Zhang,Razi Khaja,Jeffrey R. MacDonald,Henry H. Heng,Ben F. Koop,Stephen W. Scherer	69
18	Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence 2003 ·Genome biology ·Joseph Cheung,Xavier Estivill,Razi Khaja,Jeffrey R. MacDonald,Ken S. Lau,Lap‐Chee Tsui,Stephen W. Scherer	187

About Jeffrey R. MacDonald

Jeffrey R. MacDonald is a scholar working on Genetics, Plant Science and Molecular Biology, having authored 18 papers that have together received 2.5k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (12 papers), Chromosomal and Genetic Variations (9 papers) and Genomics and Phylogenetic Studies (8 papers). The work is most often cited by research in Genetics (1.7k citations), Cancer Research (378 citations) and Molecular Biology (1.3k citations). Jeffrey R. MacDonald has collaborated with scholars based in Canada, United States and Sweden. Frequent co-authors include Stephen W. Scherer, Lars Feuk, Ryan K. C. Yuen, Daniele Merico, Mehdi Zarrei, Razi Khaja, Joseph Cheung, Xavier Estivill, Ken S. Lau and Lap‐Chee Tsui. Their work appears in journals such as Nucleic Acids Research, Nature Genetics and Nature Reviews Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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