Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss von Oza, Andrea M., DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Murry, Jaclyn B., Hasadsri, Linda, Nara, Kiyomitsu, Kenna, Margaret, Booth, Kevin T., Azaiez, Hela, Griffith, Andrew, Avraham, Karen B., Kremer, Hannie, Rehm, Heidi L., Amr, Sami S., Abou Tayoun, Ahmad N.

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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans von Mutai, Hideki, Wasano, Koichiro, Momozawa, Yukihide, Kamatani, Yoichiro, Miya, Fuyuki, Masuda, Sawako, Morimoto, Noriko, Nara, Kiyomitsu, Takahashi, Satoe, Tsunoda, Tatsuhiko, Homma, Kazuaki, Kubo, Michiaki, Matsunaga, Tatsuo

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Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome von Masuda, Masatsugu, Kanno, Ayako, Nara, Kiyomitsu, Mutai, Hideki, Morisada, Naoya, Iijima, Kazumoto, Morimoto, Noriko, Nakano, Atsuko, Sugiuchi, Tomoko, Okamoto, Yasuhide, Masuda, Sawako, Katsunuma, Sayaka, Ogawa, Kaoru, Matsunaga, Tatsuo

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Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes von Mutai, Hideki, Momozawa, Yukihide, Kamatani, Yoichiro, Nakano, Atsuko, Sakamoto, Hirokazu, Takiguchi, Tetsuya, Nara, Kiyomitsu, Kubo, Michiaki, Matsunaga, Tatsuo

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Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis von Oishi, Naoki, Noguchi, Masaru, Fujioka, Masato, Nara, Kiyomitsu, Wasano, Koichiro, Mutai, Hideki, Kawakita, Rie, Tamura, Ryota, Karatsu, Kosuke, Morimoto, Yukina, Toda, Masahiro, Ozawa, Hiroyuki, Matsunaga, Tatsuo

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Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers von Hosoya, Makoto, Fujioka, Masato, Nara, Kiyomitsu, Morimoto, Noriko, Masuda, Sawako, Sugiuchi, Tomoko, Katsunuma, Sayaka, Takagi, Akira, Morita, Noriko, Ogawa, Kaoru, Kaga, Kimitaka, Matsunaga, Tatsuo

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Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma von Hashimoto, Kosuke, Miwa, Toru, Ono, Chie, Nara, Kiyomitsu, Mutai, Hideki, Seto, Toshiyuki, Sakamoto, Hirokazu, Matsunaga, Tatsuo

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The first sporadic case of DFNA11 identified by next-generation sequencing von Kaneko, Yuka, Nakano, Atsuko, Arimoto, Yukiko, Nara, Kiyomitsu, Mutai, Hideki, Matsunaga, Tatsuo

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Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations von Fujioka, Masato, Hosoya, Makoto, Nara, Kiyomitsu, Morimoto, Noriko, Sakamoto, Hirokazu, Otsu, Masahide, Nakano, Atsuko, Arimoto, Yukiko, Masuda, Sawako, Sugiuchi, Tomoko, Masuda, Shin, Morita, Noriko, Ogawa, Kaoru, Kaga, Kimitaka, Matsunaga, Tatsuo

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Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs von DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S.

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Inhibition of ganglioside synthesis reduces the neuronal survival activity of astrocytes von Akasako, Yuko, Nara, Kiyomitsu, Nagai, Yoshitaka, Hashimoto, Yasuhiro

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Lectin-dependent inhibition of antigen-antibody reaction: application for measuring α2,6-sialylated glycoforms of transferrin von Hoshi, Kyoka, Kariya, Yoshinobu, Nara, Kiyomitsu, Ito, Hiromi, Matsumoto, Kana, Nagae, Masamichi, Yamaguchi, Yoshiki, Nakajima, Madoka, Miyajima, Masakazu, Arai, Hajime, Kuno, Atsushi, Narimatsu, Hisashi, Shirotani, Keiro, Hashimoto, Yasuhiro

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Siglec-7 mediates nonapoptotic cell death independently of its immunoreceptor tyrosine-based inhibitory motifs in monocytic cell line U937 von Mitsuki, Motoaki, Nara, Kiyomitsu, Yamaji, Toshiyuki, Enomoto, Ayako, Kanno, Mayumi, Yamaguchi, Yoshiki, Yamada, Akane, Waguri, Satoshi, Hashimoto, Yasuhiro

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A large-scale analysis of odor coding in the olfactory epithelium von Nara, Kiyomitsu, Saraiva, Luis R, Ye, Xiaolan, Buck, Linda B

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A clinical and genetic study of 16 Japanese families with Waardenburg syndrome von Minami, Shujiro B., Nara, Kiyomitsu, Mutai, Hideki, Morimoto, Noriko, Sakamoto, Hirokazu, Takiguchi, Tetsuya, Kaga, Kimitaka, Matsunaga, Tatsuo

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Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts von Nakano, Atsuko, Arimoto, Yukiko, Mutai, Hideki, Nara, Kiyomitsu, Inoue, Satomi, Matsunaga, Tatsuo

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High Throughput ELISAs to Measure a Unique Glycan on Transferrin in Cerebrospinal Fluid : A Possible Extension toward Alzheimer's Disease Biomarker Development von Futakawa, Satoshi, Shirotani, Keiro, Nara, Kiyomitsu, Hoshi, Kyoka, Saito, Toshie, Tohyama, Yuriko, Kitazume, Shinobu, Yuasa, Tatsuhiko, Miyajima, Masakazu, Arai, Hajime, Kuno, Atsushi, Narimatsu, Hisashi, Hashimoto, Yasuhiro

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ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs von DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S.

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Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants von Shimanuki, Marie N, Hosoya, Makoto, Nishiyama, Takanori, Wakabayashi, Takeshi, Ueno, Masafumi, Ozawa, Hiroyuki, Mutai, Hideki, Nara, Kiyomitsu, Matsunaga, Tatsuo, Oishi, Naoki

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Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search von Mutai, Hideki, Miya, Fuyuki, Nara, Kiyomitsu, Yamamoto, Nobuko, Inoue, Satomi, Murakami, Haruka, Namba, Kazunori, Shitara, Hiroshi, Minami, Shujiro, Nakano, Atsuko, Arimoto, Yukiko, Morimoto, Noriko, Kawasaki, Taiji, Wasano, Koichiro, Fujioka, Masato, Uchida, Yasue, Kaga, Kimitaka, Yamazawa, Kazuki, Kikkawa, Yoshiaki, Kosaki, Kenjiro, Tsunoda, Tatsuhiko, Matsunaga, Tatsuo

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