未登录 Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders Andersen, Rebecca E.; Alkuraya, Ibrahim F.; Ajeesh, Abna; Sakamoto, Tyler; Mena, Elijah L.; Amr, Sami S.; Romi, Hila; Kenna, Margaret A.; Robson, Caroline D.; Wilch, Ellen S.; Nalbandian, Katarena; Pina-Aguilar, Raul; Walsh, Christopher A.; Morton, Cynthia C. 分享 收藏
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss Redfield, Shelby E.; De-la-Torre, Pedro; Zamani, Mina; Wang, Hanjun; Khan, Hina; Morris, Tyler; Shariati, Gholamreza; Karimi, Majid; Kenna, Margaret A.; Seo, Go Hun; Xu, Hongen; Lu, Wei; Naz, Sadaf; Galehdari, Hamid; Indzhykulian, Artur A.; Shearer, A. Eliot; Vona, Barbara 分享 收藏
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Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey 马萨诸塞州出生医院的先天性巨细胞病毒筛查: 全州范围的调查 Glovsky, Cheryl K. K.; Carroll, Kendall; Clark, Naomi; Colleran, Peter; Colleran, Vanessa; Gaffney, Shayne; Kenna, Margaret; Kuhns-Rankin, Evelyn; Luiselli, Tracy Evans; Mango, Talia; Morris, Barbara; Mullen, Charlotte; Stenerson, Matthew; Gibson, Laura; Cohen, Michael S. S. 分享 收藏
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss Chen, Robert; Diaz-Miranda, Maria Alejandra; Aref-Eshghi, Erfan; Hartman, Tiffiney R.; Griffith, Christopher; Morrison, Jennifer L.; Wheeler, Patricia G.; Torti, Erin; Richard, Gabriele; Kenna, Margaret; Dechene, Elizabeth T.; Spinner, Nancy B.; Bai, Renkui; Conlin, Laura K.; Krantz, Ian D.; Amr, Sami S.; Luo, Minjie 分享 收藏
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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss Patel, Mayher J.; DiStefano, Marina T.; Oza, Andrea M.; Hughes, Madeline Y.; Wilcox, Emma H.; Hemphill, Sarah E.; Cushman, Brandon J.; Grant, Andrew R.; Siegert, Rebecca K.; Shen, Jun; Chapin, Alex; Boczek, Nicole J.; Schimmenti, Lisa A.; Nara, Kiyomitsu; Kenna, Margaret; Azaiez, Hela; Booth, Kevin T.; Avraham, Karen B.; Kremer, Hannie; Griffith, Andrew J.; Rehm, Heidi L.; Amr, Sami S.; Abou Tayoun, Ahmad N. 分享 收藏
Pediatric Bilateral Sensorineural Hearing Loss: Minimum Test Battery and Referral Criteria for Cochlear Implant Candidacy Evaluation Anne, Samantha; Brown, Kevin D.; Goldberg, Donald M.; Adunka, Oliver F.; Kenna, Margaret; Chien, Wade; Teagle, Holly; Zwolan, Teresa A.; Sydlowski, Sarah A.; Roush, Patricia; Buchman, Craig A. 分享 收藏
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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing 在Ashkenazi犹太人口中富集的MYO15A的同义变体由于异常剪接而导致常染色体隐性听力损失 Hirsch, Yoel; Tangshewinsirikul, Chayada; Booth, Kevin T.; Azaiez, Hela; Yefet, Devorah; Quint, Adina; Weiden, Tzvi; Brownstein, Zippora; Macarov, Michal; Davidov, Bella; Pappas, John; Rabin, Rachel; Kenna, Margaret A.; Oza, Andrea M.; Lafferty, Katherine; Amr, Sami S.; Rehm, Heidi L.; Kolbe, Diana L.; Frees, Kathy; Nishimura, Carla; Luo, Minjie; Farra, Chantal; Morton, Cynthia C.; Scher, Sholem Y.; Ekstein, Josef; Avraham, Karen B.; Smith, Richard J. H.; Shen, Jun 分享 收藏
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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel ClinGen听力损失专家小组对GJB2中p.Met34Thr和p.Val37Ile变体的共识解释 Shen, Jun; Oza, Andrea M.; del Castillo, Ignacio; Duzkale, Hatice; Matsunaga, Tatsuo; Pandya, Arti; Kang, Hyunseok P.; Mar-Heyming, Rebecca; Guha, Saurav; Moyer, Krista; Lo, Christine; Kenna, Margaret; Alexander, John J.; Zhang, Yan; Hirsch, Yoel; Luo, Minjie; Cao, Ye; Choy, Kwong Wai; Cheng, Yen-Fu; Avraham, Karen B.; Hu, Xinhua; Garrido, Gema; Moreno-Pelayo, Miguel A.; Greinwald, John; Zhang, Kejian; Zeng, Yukun; Brownstein, Zippora; Basel-Salmon, Lina; Davidov, Bella; Frydman, Moshe; Weiden, Tzvi; Nagan, Narasimhan; Willis, Alecia; Hemphill, Sarah E.; Grant, Andrew R.; Siegert, Rebecca K.; DiStefano, Marina T.; Amr, Sami S.; Rehm, Heidi L.; Abou Tayoun, Ahmad N.; Azaiez, Hela; Booth, Kevin T.; Smith, Richard J.; Giersch, Anne B.; Morton, Cynthia C.; Liu, Xue Z.; Tekin, Mustafa; Lu, Yu; Yuan, Huijun; Mutai, Hideki; Schimmenti, Lisa 分享 收藏
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs (vol 21, pg 2239, 2019) 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.; Abou Tayoun, Ahmad N.; Amr, Sami S. 分享 收藏
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs ClinGen专家164听力损失基因-疾病对的临床有效性治疗 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.; Abou Tayoun, Ahmad N.; Amr, Sami S.; Abdelhak, Sonia; Alexander, John; Avraham, Karen; Bhatia, Neha; Bai, Donglin; Boczek, Nicole; Brownstein, Zippora; Burt, Rachel; Bylstra, Yasmin; del Castillo, Ignacio; Choi, Byung Yoon; Downie, Lilian; Friedman, Thomas; Giersch, Anne; Goh, Jasmine; Greinwald, John; Griffith, Andrew J.; Hernandez, Amy; Holt, Jeffrey; Hosoya, Makoto; Ying, Lim Jiin; Jain, Kanika; Kim, Un-Kyung; Kremer, Hannie; Krantz, Ian; Leal, Suzanne; Lewis, Morag; Liu, Xue Zhong; Low, Wendy; Lu, Yu; Luo, Minjie; Masmoudi, Saber; Ming, Tan Yuen; Moreno-Pelayo, Miguel Angel; Morin, Matias; Morton, Cynthia; Murray, Jaclyn; Mutai, Hideki; Nara, Kiyomitsu; Pandya, Arti; Pei-Rong, Sylvia Kam; Smith, Richard J. H.; Jamuar, Saumya Shekhar; Suer, Funda Elif; Usami, Shin-Ichi; Van Camp, Guy; Yamazawa, Kazuki; Yuan, Hui-Jun; Black-Zeigelbein, Elizabeth; Zhang, Keijan 分享 收藏
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss 遗传性听力损失的ACMG/AMP变体解释指南的专家规范 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.; Tayoun, Ahmad N. Abou 分享 收藏
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