Juan C. Perín

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

Josephine Elia, Xiaowu Gai, Hongbo Xie et al. · Molecular Psychiatry · 2009 · 526 citations · Full text

Genetics, Disease Gene Identification, Social Sciences +19

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

Tamim H. Shaikh, Xiaowu Gai, Juan C. Perín et al. · Genome Research · 2009 · 389 citations · Full text

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

Martin Picard, Jiangwen Zhang, Saege Hancock et al. · Proceedings of the National Academy of Sciences · 2014 · 296 citations

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso et al. · Nature Genetics · 2012 · 196 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of <i>INI1/SMARCB1</i> in Malignant Rhabdoid Tumors

Eric M. Jackson, Angela J. Sievert, Xiaowu Gai et al. · Clinical Cancer Research · 2009 · 190 citations · Full text