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16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome 16q24.3微缺失破坏ANKRD11的上游非编码区导致KBG综合征 Iwata-Otsubo, Aiko; Rippert, Alyssa L.; Balciuniene, Jorune; Fiordaliso, Sarah K.; Chen, Robert; Markose, Preetha; Skraban, Cara M.; Gray, Christopher; Zackai, Elaine H.; Dubbs, Holly A.; Deardorff, Matthew A.; Conlin, Laura K.; Izumi, Kosuke 分享 收藏
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Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent Duraisamy, Arul J.; Liu, Ruby; Sureshkumar, Shruti; Rose, Rajiv; Jagannathan, Lakshmanan; da Silva, Cristina; Coovadia, Adam; Ramachander, Vinish; Chandrasekar, Sathyapriya; Raja, Indu; Sajnani, Manisha; Selvaraj, Sreekanth M.; Narang, Bhuvandeep; Darvishi, Katayoon; Bhayal, Amar C.; Katikala, Lavanya; Guo, Fen; Chen-Deutsch, Xiangwen; Balciuniene, Jorune; Ma, Zeqiang; Nallamilli, Babi R. R.; Bean, Lora; Collins, Christin; Hegde, Madhuri 分享 收藏
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test Guo, Fen; Liu, Ruby; Pan, Yinghong; Collins, Christin; Bean, Lora; Ma, Zeqiang; Mathur, Abhinav; Da Silva, Cristina; Nallamilli, Babi; Guruju, Naga; Chen-Deutsch, Xiangwen; Yousaf, Rizwan; Chin, Ephrem; Balciuniene, Jorune; Hegde, Madhuri 分享 收藏
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield Yamamoto, Nobuko; Balciuniene, Jorune; Hartman, Tiffiney; Diaz-Miranda, Maria Alejandra; Bedoukian, Emma; Devkota, Batsal; Lawrence, Audrey; Golenberg, Netta; Patel, Maha; Tare, Archana; Chen, Robert; Schindler, Emma; Choi, Jiwon; Kaur, Maninder; Charles, Sarah; Chen, Jiani; Fanning, Elizabeth A.; Dechene, Elizabeth; Cao, Kajia; Jill, Murrell R.; Rajagopalan, Ramakrishnan; Bayram, Yavuz; Dulik, Matthew C.; Germiller, John; Conlin, Laura K.; Krantz, Ian D.; Luo, Minjie 分享 收藏
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy ATP6V0C变体损害v-atpase功能，导致通常与癫痫相关的神经发育障碍 Mattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew 分享 收藏
Molecular Diagnostic Outcomes from 700 Cases What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? Murrell, Jill R.; Nesbitt, Addie May, I; Baker, Samuel W.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D.; Dulik, Matthew C.; Conlin, Laura K.; Luo, Minjie; Gibson, Kristin McDonald; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H.; Bedoukian, Emma C.; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M.; Deardorff, Matthew A.; Medne, Livija; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B. 分享 收藏
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Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease Wang, Jing; Balciuniene, Jorune; Diaz-Miranda, Maria Alejandra; McCormick, Elizabeth M.; Aref-Eshghi, Erfan; Muir, Alison M.; Cao, Kajia; Troiani, Juliana; Moseley, Alicia; Fan, Zhiqian; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Peterson, James T.; Spinner, Nancy B.; Wallace, Douglas C.; Dulik, Matthew C.; Falk, Marni J. 分享 收藏
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior RFX家族转录因子的破坏会导致自闭症，注意力缺陷/多动障碍，智力障碍和行为失调 Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W. 分享 收藏
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy Balciuniene, Jorune; DeChene, Elizabeth T.; Akgumus, Gozde; Romasko, Edward J.; Cao, Kajia; Dubbs, Holly A.; Mulchandani, Surabhi; Spinner, Nancy B.; Conlin, Laura K.; Marsh, Eric D.; Goldberg, Ethan; Helbig, Ingo; Sarmady, Mahdi; Abou Tayoun, Ahmad 分享 收藏
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses Baker, Samuel W.; Murrell, Jill R.; Nesbitt, Addie I.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Yu, Zhenming; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wilkens, Alisha B.; Bhoj, Elizabeth J.; Guan, Qiaoning; Dulik, Matthew C.; Conlin, Laura K.; Abou Tayoun, Ahmad N.; Luo, Minjie; Wu, Chao; Cao, Kajia; Sarmady, Mandi; Bedoukian, Emma C.; Tarpinian, Jennifer; Medne, Livija; Skraban, Cara M.; Deardorff, Matthew A.; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B. 分享 收藏
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss Guan, Qiaoning; Balciuniene, Jorune; Cao, Kajia; Fan, Zhiqian; Biswas, Sawona; Wilkens, Alisha; Gallo, Daniel J.; Bedoukian, Emma; Tarpinian, Jennifer; Jayaraman, Pushkala; Sarmady, Mahdi; Dulik, Matthew; Santani, Avni; Spinner, Nancy; Abou Tayoun, Ahmad N.; Krantz, Ian D.; Conlin, Laura K.; Luo, Minjie 分享 收藏
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Targeted transgene integration overcomes variability of position effects in zebrafish Roberts, Jennifer Anne; Miguel-Escalada, Irene; Slovik, Katherine Joan; Walsh, Kathleen Theodora; Hadzhiev, Yavor; Sanges, Remo; Stupka, Elia; Marsh, Elizabeth Kate; Balciuniene, Jorune; Balciunas, Darius; Mueller, Ferenc 分享 收藏
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