Newborn hearing screening—a silent revolution

CC Morton, WE Nance - New England Journal of Medicine, 2006 - Mass Medical Soc
The implementation of universal screening programs to detect hearing defects in newborns
has dramatically increased the identification of hearing loss in infants. Recent advances in …

Sensorineural hearing loss in children

RJH Smith, JF Bale, KR White - The Lancet, 2005 - thelancet.com
During the past three to four decades, the incidence of acquired sensorineural hearing loss
(SNHL) in children living in more developed countries has fallen, as a result of improved …

Treatment of monogenic and digenic dominant genetic hearing loss by CRISPR-Cas9 ribonucleoprotein delivery in vivo

Y Tao, V Lamas, W Du, W Zhu, Y Li… - Nature …, 2023 - nature.com
Mutations in Atp2b2, an outer hair cell gene, cause dominant hearing loss in humans. Using
a mouse model Atp2b2 Obl/+, with a dominant hearing loss mutation (Oblivion), we show …

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe… - Human genetics, 2016 - Springer
Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns.
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …

GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

DK Chan, KW Chang - The Laryngoscope, 2014 - Wiley Online Library
Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …

[HTML][HTML] American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

RL Alford, KS Arnos, M Fox, JW Lin, CG Palmer… - Genetics in …, 2014 - Elsevier
Hearing loss is a common and complex condition that can occur at any age, can be inherited
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …

A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non …

FJ Del Castillo, M Rodriguez-Ballesteros… - Journal of medical …, 2005 - jmg.bmj.com
METHODS This study was done on probands with ARNSHI and their relatives from Spain,
Italy, France, Belgium, the United Kingdom, Israel, the Palestinian Authority, the USA, Brazil …

[HTML][HTML] Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

MM Li, A Abou Tayoun, M DiStefano, A Pandya… - Genetics in …, 2022 - Elsevier
Hearing loss is a common and complex condition that can occur at any age, can be inherited
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …

Genome-wide patterns of homozygosity provide clues about the population history and adaptation of goats

F Bertolini, TF Cardoso, G Marras, EL Nicolazzi… - Genetics Selection …, 2018 - Springer
Background Patterns of homozygosity can be influenced by several factors, such as
demography, recombination, and selection. Using the goat SNP50 BeadChip, we genotyped …

Characterization of heterozygosity-rich regions in Italian and worldwide goat breeds

G Chessari, A Criscione, D Marletta, P Crepaldi… - Scientific Reports, 2024 - nature.com
Heterozygosity-rich regions (HRR) are genomic regions of high heterozygosity, which may
harbor loci related to key functional traits such as immune response, survival rate, fertility …