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Genetic Evaluation Practices for Neonates with Congenital Heart Disease in Pediatric Cardiac Intensive Care Units: Findings from a Multi-institutional Survey 新生儿先天性心脏病在儿科心脏重症监护室中的遗传评估实践：多机构调查结果 Bigelow, Amee M.; Krawczeski, Catherine D.; Kistler, Isaac; Spayde, Katherine; Willoughby, Ava; White, Peter; Chaudhari, Bimal P.; Geddes, Gabrielle C.; Wilson, Sheria D.; Garg, Vidu 分享 收藏
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Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study Nicolau, Stefan; Malhotra, Jyoti; Kaler, Maryann; Coxen, Pamela Magistrado; Iammarino, Megan A.; Reash, Natalie F.; Frair, Emma C.; Wijeratne, Saranga; Kelly, Benjamin J.; White, Peter; Lowes, Linda P.; Waldrop, Megan A.; Flanigan, Kevin M. 分享 收藏
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity Wijeratne, Saranga; Gonzalez, Maria E. Hernandez; Roach, Kelli; Miller, Katherine E.; Schieffer, Kathleen M.; Fitch, James R.; Leonard, Jeffrey; White, Peter; Kelly, Benjamin J.; Cottrell, Catherine E.; Mardis, Elaine R.; Wilson, Richard K.; Miller, Anthony R. 分享 收藏
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Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome Blue, Elizabeth E.; White, Janson J.; Dush, Michael K.; Gordon, William W.; Wyatt, Brent H.; White, Peter; Marvin, Colby T.; Helle, Emmi; Ojala, Tiina; Priest, James R.; Jenkins, Mary M.; Almli, Lynn M.; Reefhuis, Jennita; Pangilinan, Faith; Brody, Lawrence C.; McBride, Kim L.; Garg, Vidu; Shaw, Gary M.; Romitti, Paul A.; Nembhard, Wendy N.; Browne, Marilyn L.; Werler, Martha M.; Kay, Denise M.; Mital, Seema; Chong, Jessica X.; Nascone-Yoder, Nanette M.; Bamshad, Michael J. 分享 收藏
Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis Yasuhara, Jun; Manivannan, Sathiya N.; Majumdar, Uddalak; Gordon, David M.; Lawrence, Patrick J.; Aljuhani, Mona; Myers, Katherine; Stiver, Corey; Bigelow, Amee M.; Galantowicz, Mark; Yamagishi, Hiroyuki; Mcbride, Kim L.; White, Peter; Garg, Vidu 分享 收藏
Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans 小鼠骨骼肌纤维中Pofut1的缺失诱导顺式和反式肌肉衰老相关表型 Zygmunt, Deborah A.; Singhal, Neha; Kim, Mi-Lyang; Cramer, Megan L.; Crowe, Kelly E.; Xu, Rui; Jia, Ying; Adair, Jessica; Martinez-Pena y Valenzuela, Isabel; Akaaboune, Mohammed; White, Peter; Janssen, Paulus M.; Martin, Paul T. 分享 收藏
Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity Miller, Anthony R.; Wijeratne, Saranga; McGrath, Sean D.; Schieffer, Kathleen M.; Miller, Katherine E.; Lee, Kristy; Mathew, Mariam; LaHaye, Stephanie; Fitch, James R.; Kelly, Benjamin J.; White, Peter; Mardis, Elaine R.; Wilson, Richard K.; Cottrell, Catherine E.; Magrini, Vincent 分享 收藏
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review De Faria, Flavia Watusi; Schieffer, Kathleen M.; Pierson, Christopher R.; Boue, Daniel R.; LaHaye, Stephanie; Miller, Katherine E.; Amayiri, Nisreen; Koboldt, Daniel C.; Lichtenberg, Tara; Leraas, Kristen; Brennan, Patrick; Kelly, Ben; White, Peter; Magrini, Vincent; Wilson, Richard K.; Mardis, Elaine R.; Cottrell, Catherine E.; Rusin, Jerome; Finlay, Jonathan L.; Osorio, Diana S. 分享 收藏
Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement Miller, Katherine E.; Wheeler, Gregory; LaHaye, Stephanie; Schieffer, Kathleen M.; Cearlock, Sydney; Venkata, Lakshmi Prakruthi Rao; Bravo, Alejandro Otero; Grischow, Olivia E.; Kelly, Benjamin J.; White, Peter; Pierson, Christopher R.; Boue, Daniel R.; Koo, Selene C.; Klawinski, Darren; Ranalli, Mark A.; Shaikhouni, Ammar; Salloum, Ralph; Shatara, Margaret; Leonard, Jeffrey R.; Wilson, Richard K.; Cottrell, Catherine E.; Mardis, Elaine R.; Koboldt, Daniel C. 分享 收藏
Cerebral organoids containing an AUTS2 missense variant model microcephaly Fair, Summer R.; Schwind, Wesley; Julian, Dominic; Biel, Alecia; Guo, Gongbo; Rutherford, Ryan; Ramadesikan, Swetha; Westfall, Jesse; Miller, Katherine E.; Kararoudi, Meisam Naeimi; Hickey, Scott E.; Mosher, Theresa Mihalic; McBride, Kim L.; Neinast, Reid; Fitch, James; Lee, Dean; White, Peter; Wilson, Richard K.; Bedrosian, Tracy A.; Koboldt, Daniel C.; Hester, Mark E. 分享 收藏
Detection of brain somatic variation in epilepsy-associated developmental lesions Bedrosian, Tracy A.; Miller, Katherine E.; Grischow, Olivia E.; Schieffer, Kathleen M.; LaHaye, Stephanie; Yoon, Hyojung; Miller, Anthony R.; Navarro, Jason; Westfall, Jesse; Leraas, Kristen; Choi, Samantha; Williamson, Rachel; Fitch, James; Kelly, Benjamin J.; White, Peter; Lee, Kristy; McGrath, Sean; Cottrell, Catherine E.; Magrini, Vincent; Leonard, Jeffrey; Pindrik, Jonathan; Shaikhouni, Ammar; Boue, Daniel R.; Thomas, Diana L.; Pierson, Christopher R.; Wilson, Richard K.; Ostendorf, Adam P.; Mardis, Elaine R.; Koboldt, Daniel C. 分享 收藏
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery Gordon, David M.; Cunningham, David; Zender, Gloria; Lawrence, Patrick J.; Penaloza, Jacqueline S.; Lin, Hui; Fitzgerald-Butt, Sara M.; Myers, Katherine; Duong, Tiffany; Corsmeier, Donald J.; Gaither, Jeffrey B.; Kuck, Harkness C.; Wijeratne, Saranga; Moreland, Blythe; Kelly, Benjamin J.; Garg, Vidu; White, Peter; McBride, Kim L. 分享 收藏
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