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BMC Ophthalmology|October 6, 2021
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmusTianwei Qian, Chong Chen, Caihua Li, et al.
Case Reports in Genetics|August 21, 2019
A Start Codon Variant in <i>NOG</i> Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the StapesNathan R Lindquist, Eric N Appelbaum, Anushree Acharya, et al.
F1000Research|November 5, 2015
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensitiesMohan Narayanan, Keri Ramsey, Theresa Grebe, et al.
BMC Medical Genomics|February 5, 2025
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosaSaira Sattar, Thashi Bharadwaj, Umm-E- Kalsoom, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|March 20, 2014
Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotypeManou Sommen, Guy Van Camp, Balázs Liktor, et al.
Gene|September 15, 2012
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardationMohamed Ali Mosrati, Isabelle Schrauwen, Hassen Kamoun, et al.
BMC Medical Genomics|December 19, 2024
THBS1 is a new autosomal recessive non-syndromic hearing impairment geneThashi Bharadwaj, Anushree Acharya, Fati Ullah Khan, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestryImen Chakchouk, Di Zhang, Zhihui Zhang, et al.
Frontiers in Genetics|March 10, 2023
The genetic contribution of the X chromosome in age-related hearing lossElnaz Naderi, Diana M Cornejo-Sanchez, Guangyou Li, et al.
American Journal of Medical Genetics. Part A|November 17, 2023
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyriaTommi Salokivi, Riitta Parkkola, Yasmin Rajendran, et al.
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