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Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

Imen Chakchouk, Di Zhang, Zhihui Zhang, Laurent C. Francioli, Regie Lyn P. Santos‐Cortez, Isabelle Schrauwen, Suzanne M. Leal

European Journal of Human Genetics · 2019 · 19 citations · 31 references

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31

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

, , +17

ClinVar: public archive of interpretations of clinically relevant variants

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text

, , +17

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

Christina Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer et al. · Human Genetics · 2016 · 588 citations · Full text

, , +17

Mutations in the Connexin 26 Gene (<i>GJB2</i>) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

Robert J. Morell, Hung Jeff Kim, Linda J. Hood et al. · New England Journal of Medicine · 1998 · 545 citations

, , +11

Hereditary Hearing Loss and its Syndromes

Journal of Medical Genetics · 1995 · 512 citations · Full text

, , +12