Regie Lyn P. Santos‐Cortez
University of Colorado Anschutz Medical Campus(US)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Ear Surgery and Otitis Media, Congenital heart defects research, Hearing Loss and Rehabilitation, Vestibular and auditory disorders
Most-Cited Works
- → De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay(2015)157 cited
- → Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89(2013)112 cited
- → MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder(2016)103 cited
- → Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss(2018)85 cited
- → Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3(2015)65 cited
- → Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish(2014)60 cited
- → TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities(2013)56 cited
- → FUT2 Variants Confer Susceptibility to Familial Otitis Media(2018)46 cited
- → Rare A2ML1 variants confer susceptibility to otitis media(2015)44 cited
- → Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families(2016)36 cited