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Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
Neuroimage. Clinical|December 28, 2020
Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantationArnaud Coez, Ludovic Fillon, Ana Saitovitch, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ developmentXiao-Jun Li, Lin Li, Charles Morgan, et al.
American Journal of Human Genetics|May 7, 2013
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafnessVeronique Pingault, Virginie Bodereau, Viviane Baral, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 2, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ developmentXiao-Jun Li, Charles Morgan, Phan Q Duy, et al.
Human Genetics|February 7, 2025
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variantsMargaux Serey-Gaut, Ralyath Balogoun, Laurence Jonard, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11Christian Wentzel, Evica Rajcan-Separovic, Claudia A L Ruivenkamp, et al.
Clinical Genetics|October 10, 2018
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5Justine Lerat, Crystel Bonnet, François Cartault, et al.
American Journal of Medical Genetics. Part A|June 27, 2019
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new casesDaphné Lehalle, Roberto Colombo, Michael O'Grady, et al.
British Journal of Haematology|July 25, 2019
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohortCyrielle Fouquet, Marie-Amelyne Le Rouzic, Thierry Leblanc, et al.
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