未登录 Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health 儿童脆性骨症的精神共病与治疗模式：一项关于精神健康问题的系统综述 Morales, Julia M.; Villar, Camille F.; Varman, Beatriz; Colombo, Gianna M.; Li, Danqi; Sadek, Sarah J.; Robinson, Marie-eve; Murali, Chaya N.; Ayers, Kara; Gomez, Jocelyn; Lee, Brendan; Sutton, V. Reid; Storch, Eric A.; Wiese, Andrew D. 分享 收藏
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Clinical validation of RNA sequencing for Mendelian disorder diagnostics Zhao, Sen; Macakova, Kristina; Sinson, Jefferson C.; Dai, Hongzheng; Rosenfeld, Jill; Zapata, Gladys E.; Li, Shenglan; Ward, Patricia A.; Wang, Christiana; Qu, Chunjing; Maywald, Becky; Lee, Brendan; Eng, Christine; Liu, Pengfei 分享 收藏
Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas Vuocolo, Blake; Sierra, Roberta; Brooks, Daniel; Holder, Christopher; Urbanski, Lauren; Rodriguez, Keila; Gamez, Jose David; Mulukutla, Surya Narayan; Hernandez, Ana; Allegre, Alberto; Hidalgo, Humberto; Rodriguez, Sarah; Magallan, Sandy; Gibson, Jeremy; Bernini, Juan Carlos; Watson, Melanie; Nelson, Robert; Mellin-Sanchez, Lizbeth; Garcia, Nancy; Berry, Lori; Dai, Hongzheng; Soler-Alfonso, Claudia; Carter, Kent; Lee, Brendan; Lalani, Seema R. 分享 收藏
Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing 通过trio全基因组测序探索系统性硬化症病因的复杂性 Dai, Hongzheng; Ketkar, Shamika; Tan, Taotao; Atkinson, Elizabeth G.; Burrage, Lindsay; Worley, Kim C.; Christopher, Brian; Lyons, Marka A.; Assassi, Shervin; Mayes, Maureen D.; Lee, Brendan 分享 收藏
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERIC/SOX9-dependent osteoprogenitor differentiation defect Marom, Ronit; Song, I. -Wen; Busse, Emily C.; Washington, Megan E.; Berrier, Ava S.; Rossi, Vittoria C.; Ortinau, Laura; Jeong, Youngjae; Jiang, Ming-Ming; Dawson, Brian C.; Adeyeye, Mary; Leynes, Carolina; Lietman, Caressa D.; Stroup, Bridget M.; Batkovskyte, Dominyka; Jain, Mahim; Chen, Yuqing; Cela, Racel; Castellon, Alexis; Tran, Alyssa A.; Lorenzo, Isabel; Meyers, D. Nicole; Huang, Shixia; Turner, Alicia; Shenava, Vinitha; Wallace, Maegen; Orwoll, Eric; Park, Dongsu; Ambrose, Catherine G.; Nagamani, Sandesh C. S.; Heaney, Jason D.; Lee, Brendan H. 分享 收藏
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Pichon, Jean -Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne -Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan 分享 收藏
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing Li, Shenglan; Zhao, Sen; Sinson, Jefferson C.; Bajic, Aleksandar; Rosenfeld, Jill A.; Neeley, Matthew B.; Pena, Mezthly; Worley, Kim C.; Burrage, Lindsay C.; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William J.; Clark, Gary D.; Lalani, Seema; Bacino, Carlos A.; Machol, Keren; Chao, Hsiao-Tuan; Potocki, Lorraine; Emrick, Lisa; Sheppard, Jennifer; Nguyen, My T. T.; Khoramnia, Anahita; Hernandez, Paula Patricia; Nagamani, Sandesh CS.; Liu, Zhandong; Eng, Christine M.; Lee, Brendan; Liu, Pengfei 分享 收藏
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Se Bastien; Denomme-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan 分享 收藏
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Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression Kho, Jordan; Polak, Urszula; Jiang, Ming-Ming; Odom, John D.; Hunter, Jill V.; Ali, Saima M.; Burrage, Lindsay C.; Nagamani, Sandesh C. S.; Pautler, Robia G.; Thompson, Hannah P.; Urayama, Akihiko; Jin, Zixue; Lee, Brendan 分享 收藏
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Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance Stroup, Bridget M.; Li, Xiaohui; Ho, Sara; Zhouyao, Haonan; Chen, Yuqing; Ani, Safa; Dawson, Brian; Jin, Zixue; Marom, Ronit; Jiang, Ming-Ming; Lorenzo, Isabel; Rosen, Daniel; Lanza, Denise; Aceves, Nathalie; Koh, Sara; Seavitt, John R.; Heaney, Jason D.; Lee, Brendan; Burrage, Lindsay C. 分享 收藏
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy Morales-Rosado, Joel A.; Schwab, Tanya L.; Macklin-Mantia, Sarah K.; Foley, A. Reghan; Vairo, Filippo Pinto e; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A.; Boyum, Grace E.; Hu, Ying; Cong, Anh T. Q.; Lotze, Timothy E.; Mohila, Carrie A.; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R.; Grunseich, Christopher; Bruels, Christine C.; Littel, Hannah R.; Estrella, Elicia A.; Pais, Lynn; Kang, Peter B.; Zimmermann, Michael T.; Lupski, James R.; Lee, Brendan; Schellenberg, Matthew J.; Clark, Karl J.; Wierenga, Klaas J.; Bonnemann, Carsten G.; Klee, Eric W. 分享 收藏
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