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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 21, 2017
Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysisYanqing Zhang, Yi Liu, Mehdi Zarrei, et al.Fertility and Sterility|January 28, 2014
Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosisRyan K C Yuen, Anna Merkoulovitch, Jeffrey R MacDonald, et al.Journal of Medical Genetics|March 25, 2011
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletionsAnn M Joseph-George, Yongshu He, Christian R Marshall, et al.Genome Biology|May 21, 2010
Towards a comprehensive structural variation map of an individual human genomeAndy W Pang, Jeffrey R MacDonald, Dalila Pinto, et al.Medrxiv : the Preprint Server for Health Sciences|March 10, 2025
Gene dosage architecture across complex traitsSayeh Kazem, Kuldeep Kumar, Martineau Jean-Louis, et al.American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.Research Square|December 3, 2025
Determinants of pleiotropy and monotonic gene dosage responses across human traitsSayeh Kazem, Kuldeep Kumar, Guillaume Huguet, et al.Nature Genetics|November 23, 2006
Genome assembly comparison identifies structural variants in the human genomeRazi Khaja, Junjun Zhang, Jeffrey R MacDonald, et al.American Journal of Human Genetics|January 13, 2005
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophyKazuhiko Nakabayashi, Daniela Amann, Yan Ren, et al.Nature Biotechnology|May 10, 2011
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsDalila Pinto, Katayoon Darvishi, Xinghua Shi, et al.Pageof 5