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Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis 利用长读长基因组测序和转录组分析鉴定瓦尔斯沃断裂综合征的潜在非编码致病变异 DuBois, Makenna; Dixon, Katherine; Sherlaw-Sturrock, Charlotte; Shen, Yaoqing; Probst, Frank; Clarke, Lorne; Lyalin, Dmitry; Shuman, Cheryl; Jones, Steven; Boerkoel, Cornelius; Stewart, Grant S.; Richmond, Phillip; Myers, Angela 分享 收藏
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Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine Goldstein, Jennifer; Balog, Amanda; Bali, Deeksha; Reeves, Emily E. B.; Demirbas, Didem; Fernandez, Raquel; Giliberto, Florencia; Groopman, Emily; Hung, Christina; Lacaria, Melanie; Mao, Rong; Mohan, Shruthi; Peck, Dawn; Pollard, Laura; Rehder, Catherine; Savatt, Juliann; Schmidt, Ryan; St Clair, Pepper; Vairo, Filippo; White, Amy; Wood, Tim; Clarke, Lorne A. 分享 收藏
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Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework 使用ClinGen临床有效性框架评估溶酶体疾病中涉及的基因 Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Vairo, Filippo Pinto e; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer 分享 收藏
Developing a scoring system for gene curation prioritization in lysosomal diseases Wilke, Matheus Vernet Machado Bressan; Goldstein, Jennifer; Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Fernandez, Raquel; Chen, Hongjie; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Yuzyuk, Tatiana; Craigen, William J.; Pinto, Filippo 分享 收藏
Development of a scoring system to define lysosomal diseases Yuzyuk, Tatiana; Wilk, Matheus Vernet Machado Bressan; Goldstein, Jenny; Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Fernandez, Raquel; Chen, Hongjie; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Craigen, William; Pinto e Vairo, Filippo 分享 收藏
Development of a scoring system to define lysosomal disease Wilke, Matheus V.; Goldstein, Jennifer; Groopman, Emily; Mohan, Shruthi; Fernandez, Raquel; Bali, Deeksha; Clarke, Lorne A.; Hung, Christina; Mao, Rong; Chen, Hongjie; Waddell, Amber; Yuzyuk, Tatiana; Craigen, William J.; Vairo, Filippo 分享 收藏
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism Samra, Simran; Sharma, Mehul; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Byres, Loryn; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Mwenifumbo, Jill; Modi, Bhavi P.; Biggs, Catherine M.; Boelman, Cyrus; Clarke, Lorne A.; Lehman, Anna; Turvey, Stuart E. 分享 收藏
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel 庞贝病的变异分类; ClinGen溶酶体病变异治疗专家小组的ACMG/AMP规范 Goldstein, Jennifer L.; Mcglaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A.; Schachter, Miriam; Son, Rachel G.; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto e Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine 分享 收藏
THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE Mao, Rong; Groopman, Emily; Fernandez, Raquel; Mohan, Shruthi; Stafford, Amber; Baudet, Heather; Weaver, Meredith; Clarke, Lorne; Hung, Christina; Bali, Deeksha; Pinto e Vairo, Filippo; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William; Goldstein, Jennifer 分享 收藏
The ClinGen Lysosomal Diseases Gene Curation Panel: Applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease Groopman, Emily; Fernandez, Raquel; Mohan, Shruthi; Stafford, Amber; Weaver, Meredith; Clarke, Lorne; Hung, Christina; Mao, Rong; Bali, Deeksha; Vairo, Filippo; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer 分享 收藏
The practice of genomic medicine: A delineation of the process and its governing principles Handra, Julia; Elbert, Adrienne; Gazzaz, Nour; Moller-Hansen, Ashley; Hyunh, Stephanie; Lee, Hyun Kyung; Boerkoel, Pierre; Alderman, Emily; Anderson, Erin; Clarke, Lorne; Hamilton, Sara; Hamman, Ronnalea; Hughes, Shevaun; Ip, Simon; Langlois, Sylvie; Lee, Mary; Li, Laura; Mackenzie, Frannie; Patel, Millan S. S.; Prentice, Leah M. M.; Sangha, Karan; Sato, Laura; Seath, Kimberly; Seppelt, Margaret; Swenerton, Anne; Warnock, Lynn; Zambonin, Jessica L.; Boerkoel, Cornelius F.; Chin, Hui-Lin; Armstrong, Linlea 分享 收藏
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models Santana, Andres G.; Robinson, Kyle; Vickers, Chelsea; Deen, Matthew C.; Chen, Hong-Ming; Zhou, Stephen; Dai, Ben; Fuller, Maria; Boraston, Alisdair B.; Vocadlo, David J.; Clarke, Lorne A.; Withers, Stephen G. 分享 收藏
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study Elliott, Alison M.; Adam, Shelin; du Souich, Christele; Lehman, Anna; Nelson, Tanya N.; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T.; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K.; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J.; Patel, Millan S.; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M. 分享 收藏
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice Chin, Hui-Lin; Gazzaz, Nour; Huynh, Stephanie; Handra, Iulia; Warnock, Lynn; Moller-Hansen, Ashley; Boerkoel, Pierre; Jacobsen, Julius O. B.; du Souich, Christele; Zhang, Nan; Shefchek, Kent; Prentice, Leah M.; Washington, Nicole; Haendel, Melissa; Armstrong, Linlea; Clarke, Lorne; Li, Wenhui Laura; Smedley, Damian; Robinson, Peter N.; Boerkoel, Cornelius F. 分享 收藏
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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders Duncan, Anna R.; Polovitskaya, Maya M.; Gaitan-Penas, Hector; Bertelli, Sara; VanNoy, Grace E.; Grant, Patricia E.; O'Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M.; Agolini, Emanuele; Madden, Jill A.; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Abou Jamra, Rami; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F.; Seath, Kimberly; Clarke, Lorne; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H.; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estevez, Raul; Jentsch, Thomas J.; Pusch, Michael; Agrawal, Pankaj B. 分享 收藏
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