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Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
American Journal of Human Genetics|January 26, 2016
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.
Clinical Genetics|February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophyRabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
Plos Genetics|October 18, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysisPooja Biswas, Adda L Villanueva, Angel Soto-Hermida, et al.
European Journal of Human Genetics : EJHG|December 11, 2014
Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, et al.
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