Juan C. Perín
Publications by Year
Research Areas
Acute Myeloid Leukemia Research, Genomic variations and chromosomal abnormalities, Chromatin Remodeling and Cancer, Mitochondrial Function and Pathology, Cancer Genomics and Diagnostics
Most-Cited Works
- → Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes(2009)530 cited
- → High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications(2009)389 cited
- → Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming(2014)297 cited
- → NMNAT1 mutations cause Leber congenital amaurosis(2012)199 cited
- → Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors(2009)190 cited
- → Rare structural variation of synapse and neurotransmission genes in autism(2011)179 cited
- → Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia(2015)110 cited
- → Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities(2014)89 cited
- → Integrated digital pathology at scale: A solution for clinical diagnostics and cancer research at a large academic medical center(2021)77 cited
- → Clonal hematopoiesis in patients with dyskeratosis congenita(2016)60 cited