Associated Papers
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.
Blauen A et al.
Journal of Child Neurology, 2021
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.
Mauriac SA et al.
Nature Communications, 2017
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.
Hamzeh AR et al.
European Journal of Medical Genetics, 2016
The GPSM2/LGN GoLoco motifs are essential for hearing.
Bhonker Y et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2016
Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.
Lebeko K et al.
The Pan African Medical Journal, 2015
The promise of whole-exome sequencing in medical genetics.
Rabbani B et al.
Journal of Human Genetics, 2014
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Almomani R et al.
American Journal of Medical Genetics. Part A, 2013
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.
Yariz KO et al.
Clinical Genetics, 2012
Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness.
Schulze J
Clinical Genetics, 2011
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
Walsh T et al.
American Journal of Human Genetics, 2010