Auditory screening concurrent deafness predisposing genes screening in 10,043 neonates in Gansu province, China

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides

Xavier Estivill, Nancy Govea, Anna Barceló et al. · The American Journal of Human Genetics · 1998 · 549 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment studyCommentary: Universal newborn hearing screening: implications for coordinating and developing services for deaf and hearing impaired children

Heather Fortnum, A. Quentin Summerfield, Sally Hind · BMJ · 2001 · 493 citations · Full text

Medicine, Audiology, Pediatrics +17

The Colorado Newborn Hearing Screening Project, 1992–1999: On the Threshold of Effective Population-Based Universal Newborn Hearing Screening

Albert L. Mehl, Vickie Thomson · PEDIATRICS · 2002 · 386 citations

Medicine, Audiology, Pediatrics +15

Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Colleen A. Campbell, Robert A. Cucci, Sai Prasad et al. · Human Mutation · 2001 · 298 citations

Medicine, Genetics, Molecular Genetics +17

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

Koji Tsukamoto, Hiroaki Suzuki, Daisuke Harada et al. · European Journal of Human Genetics · 2003 · 256 citations

Medicine, Genetics, Molecular Genetics +15