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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions 使用基因组测序扩展新生儿筛查早期可行条件 Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Wynn, Julia; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K. 分享 收藏
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Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening 定义新生儿筛查的最小长期随访数据元素 Kellar-Guenther, Yvonne; Barringer, Lauren; Raboin, Katherine; Nichols, Ginger; Chou, Kathy Y. F.; Nguyen, Kathy; Burke, Amy R.; Fawbush, Sandy; Meyer, Joyal B.; Dorsey, Morna; Brower, Amy; Chan, Kee; Lietsch, Mei; Taylor, Jennifer; Caggana, Michele; Sontag, Marci K. 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
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study Duchenne肌营养不良的新生儿筛查: 一项为期两年的初步研究 Tavakoli, Norma P.; Gruber, Dorota; Armstrong, Niki; Chung, Wendy K.; Maloney, Breanne; Park, Sunju; Wynn, Julia; Koval-Burt, Carrie; Verdade, Lorraine; Tegay, David H.; Cohen, Lilian L.; Shapiro, Natasha; Kennedy, Annie; Noritz, Garey; Ciafaloni, Emma; Weinberger, Barry; Ellington, Marty; Schleien, Charles; Spinazzola, Regina; Sood, Sunil; Brower, Amy; Lloyd-Puryear, Michele; Caggana, Michele 分享 收藏
Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays 用于肌酸激酶-MM新生儿筛查试验的原型干血斑质控物的多实验室评价 Dantonio, Paul; Tavakoli, Norma P. P.; Migliore, Brooke; McCown, Elizabeth; Lim, Timothy; Park, Sunju; Caggana, Michele; Kucera, Katerina S. S.; Phan, Han; Street, Natalie; Petritis, Konstantinos; Vogt, Robert F. F. 分享 收藏
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors Kharrazi, Martin; Sacramento, Charlene; Comeau, Anne Marie; Hale, Jaime E.; Caggana, Michele; Kay, Denise M.; Lee, Rachel; Reilly, Brendan; Thompson, John D.; Nasr, Samya Z.; Kleyn, Mary; Hoffman, Gary; Baker, Mei W.; Clarke, Colleen; Harris, Cheryl L.; Dorley, M. Christine; Fryman, Hilary; Sutaria, Ankit; Hietala, Amy; Winslow, Holly; Richards, Holly; Therrell, Bradford L. 分享 收藏
Newborn Screening for Spinal Muscular Atrophy in New York State Clinical Outcomes From the First 3 Years Lee, Bo Hoon; Deng, Stella; Chiriboga, Claudia A.; Kay, Denise M.; Irumudomon, Obehioya; Laureta, Emma; Delfiner, Leslie; Treidler, Simona O.; Anziska, Yaacov; Sakonju, Ai; Kois, Chelsea; Farooq, Osman; Engelstad, Kristin; Laurenzano, Alexandra; Hogan, Katherine; Caggana, Michele; Saavedra-Matiz, Carlos A.; Stevens, Colleen F.; Ciafaloni, Emma 分享 收藏
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot Hartnett, Michael J.; Lloyd-Puryear, Michele A.; Tavakoli, Norma P.; Wynn, Julia; Koval-Burt, Carrie L.; Gruber, Dorota; Trotter, Tracy; Caggana, Michele; Chung, Wendy K.; Armstrong, Niki; Brower, Amy M. 分享 收藏
Utility of Newborn Dried Blood Spots to Ascertain Seroprevalence of SARS-CoV-2 Antibodies Among Individuals Giving Birth in New York State, November 2019 to November 2021 Damjanovic, Amanda; Styer, Linda M.; Nemeth, Katherine; Yauney, Erica; Rock, Jean M.; Bievenue, Rachel; Hoen, Rebecca; Ehrbar, Dylan; Kay, Denise M.; Caggana, Michele; Parker, Monica M. 分享 收藏
COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance 新型冠状病毒肺炎大流行对新生儿筛查公共卫生监测的影响 Singh, Sikha; Caggana, Michele; Johnson, Carol; Lee, Rachel; Zarbalian, Guisou; Gaviglio, Amy; Keehn, Alisha; Morrison, Mia; Becker, Scott J.; Ojodu, Jelili 分享 收藏
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic 通过适应新型冠状病毒肺炎大流行来改善新生儿筛查试点研究的招募 Wynn, Julia; Tavakoli, Norma P.; Armstrong, Niki; Gomez, Jacqueline; Koval, Carrie; Lai, Christina; Tang, Stephanie; Quevedo Prince, Andrea; Quevedo, Yeyson; Rufino, Katrina; Palacio Morales, Laura; Pena, Angela; Grossman, Sharon; Monfiletto, Mary; Ruda, Erika; Jimenez, Vania; Verdade, Lorraine; Jones, Ashley; Barriga, Michelle G.; Karan, Nandanee; Puma, Alexandria; Sarker, Safa; Chin, Sarah; Duarte, Kelly; Tegay, David H.; Bacchus, Irzaud; Julooru, Rajani; Maloney, Breanne; Park, Sunju; Saami, Akilan M.; Cohen, Lilian; Shapiro, Natasha; Caggana, Michele; Chung, Wendy K.; Gruber, Dorota 分享 收藏
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Screenplus: A model for collective funding of pilot newborn screening Kelly, Nicole R.; Boychuk, Natalie; Ouyang, Wei; Locke, Suzanne; Teitelman, Nehama; Martin, Monica M.; McNeight, Hannah; Caggana, Michele; Orsini, Joseph J.; Gelb, Michael H.; Wasserstein, Melissa P. 分享 收藏
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Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency 通过新生儿筛查胍乙酸甲基转移酶缺乏症患者的前瞻性鉴定 Hart, Kim; Rohrwasser, Andreas; Wallis, Heidi; Golsan, Heather; Shao, Jianyin; Anderson, Taylor; Wang, Xiaoli; Szabo-Fresnais, Nicolas; Morrissey, Mark; Kay, Denise M.; Wojcik, Matthew; Galvin-Parton, Patricia A.; Longo, Nicola; Caggana, Michele; Pasquali, Marzia 分享 收藏
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools Rowe, Alexander D.; Stoway, Stephanie D.; Ahlman, Henrik; Arora, Vaneet; Caggana, Michele; Fornari, Anna; Hagar, Arthur; Hall, Patricia L.; Marquardt, Gregg C.; Miller, Bobby J.; Nixon, Christopher; Norgan, Andrew P.; Orsini, Joseph J.; Pettersen, Rolf D.; Piazza, Amy L.; Schubauer, Neil R.; Smith, Amy C.; Tang, Hao; Tavakoli, Norma P.; Wei, Sainan; Zetterstrom, Rolf H.; Currier, Robert J.; Morkrid, Lars; Rinaldo, Piero 分享 收藏
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