Diana M. Cornejo-Sanchez
Columbia University Irving Medical Center(US)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Cancer-related molecular mechanisms research, Genomics and Rare Diseases
Most-Cited Works
- → Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland(2021)52 cited
- → Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies(2020)47 cited
- → Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era(2020)30 cited
- → Rare-variant association analysis reveals known and new age-related hearing loss genes(2023)22 cited
- → Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes(2022)20 cited
- → Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma(2019)16 cited
- → Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy(2019)9 cited
- → The genetic contribution of the X chromosome in age-related hearing loss(2023)5 cited
- → Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population(2023)5 cited
- → Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis(2025)3 cited