Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility by Mohamed Kazamel, Lee-Jun Wong, Margherita Milone

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Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childh... by Andrea Gropman, Martine Uittenbogaard, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Anne Chiaramello

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Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. by Xia Wang, Yanming Feng, Jianli Li, Wei Zhang, Jing Wang, Richard A Lewis, Lee-Jun Wong

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Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome by Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao

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P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases by Jun Yang, Tiansheng Chen, Eric Kao, Jie Dong, John Lattier, Hongzheng Dai, Linyan Meng, Fan Xia, Eric Schmitt, Sandra Peacock, William Craigen, Robert Rigobello, Lee-Jun Wong, Christine Eng, Yue Wang

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Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders by Xuejun Ouyang, Yu Zhang, Lijuan Zhang, Jixuan Luo, Ting Zhang, Hui Hu, Lin Liu, Lieqiang Zhong, Shaoying Zeng, Pingyi Xu, Zhenjiang Bai, Lee-Jun Wong, Jing Wang, Jing Wang, Chunli Wang, Bin Wang, Victor Wei Zhang, Victor Wei Zhang

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Antimicrobial mitochondrial reactive oxygen species induction by lung epithelial immunometabolic modulation. by Yongxing Wang, Vikram V Kulkarni, Jezreel Pantaleón García, Miguel M Leiva-Juárez, David L Goldblatt, Fahad Gulraiz, Lisandra Vila Ellis, Jichao Chen, Michael K Longmire, Sri Ramya Donepudi, Philip L Lorenzi, Hao Wang, Lee-Jun Wong, Michael J Tuvim, Scott E Evans

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. by Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann

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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death by Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V. Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar A. Abdul-Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton

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Identification of atypical pediatric diabetes mellitus cases using electronic medical records by Christine Lee, Mohsen Bahmani Kashkouli, Irl B Hirsch, Jordan Smith, Rebecca Lorch, Jose C Florez, Pengfei Liu, Jeffrey P Krischer, Beena Akolkar, Ashok Balasubramanyam, Christopher Eberhard, Steven Fiske, Jennifer Garmeson, Christina Karges, Noah Sulman, Michael Toth, Mustafa Tosur, Marcela Astudillo, Catherine Pihoker, Sara Cromer, Jennifer Scott, Toni I Pollin, Maria J Redondo, Stephanie Sisley, Pablo Ruiz, Mary Larkin, Wendy K Chung, Lee-Jun Wong, Aniko Sabo, William Marshall, Louis H Philipson, Rita Hench, Elif A Oral, Kieren Mather, Neda Rasouli, Lainie Friedman Ross, Janet McGill, Paula Newton, Baris Akinci, Mary Ann Banerji, Steven E Kahn, Sarah Adams, Hongzheng Dai, Victoria Chen, Maaz Ahmed, Stephen Stone, Rebecca Wood, Emily Sims, Aaron Deutsch, Sarah Müller, John Buse, Jacqueline Lonier, Nopporn Thangthaeng, Marcela F Astudillo, William E Winter, Liana K Billings, Raymond Kreienkamp, William Craigen, Ansley Davis, Monica Dussan, Jordana Faruqi, Ruchi Gaba, Mark Herman, Shalini Jhangiani, Elizabeth Kubota-Mishra, Iliana Migacz, Nkechinyere Osuji, Jennifer Posey, Nalini Ram, Alejandro Siller, Eric Venner, Adriana Cardenas, Dimpi Desai, Mary Fang, Erica Hattery, Adrienne Ideouzu, Julizza Jimenez, Nupur Kikani, Graciela Montes, David Murdock, Nikalina G O’Brien, Robin Goland, Anabel Evans, Rachelle Gandica, Rudolph Leibel, Kaisha Mofford, James Pring, Carmella Evans-Molina, Farrah Anwar, Hannah Lease, Angelica Mckibben, Gabriela Monaco, Zeb Saeed, Maria Spall, Marimar Hernandez-Perez, Kelly Moors, Anna Neyman, Miriam S Udler, Julia Douvas, Melton Fan, Cristinia Fernandez Hernandez, Evelyn Greaux, Saadhvi Kartik, Pam Ricevuto, Armen I Yerevanian, Melissa Calverley, Kathy Chu, Mariella Facibene, Christopher Han, Dorit Koren, Micah Koss, Amy Sabean, Jordan Sherwood, Necole Brown, Lina Soni, Lorraine Thomas, Jennifer Abrams, Kylnt Bally, Beisi Ji, Samara Skiwiersky, SiriAtma W Greeley, Graeme Bell, Shanna Banogon, Jui Desai, Anisa Dye, David Ehrmann, Lisa R Letourneau-Freiberg, Carlin Lockwood, Kynnedie Maloz, Rochelle N Naylor, Kaylee Oppenheimer, Erin Papciak, Karen Rodriguez, Rachel Son, Manu Sundaresan, Chelsea Wu, Colleen Bender, Persephone Tian, PA-C Chelsea Baker, Megan Riff, Courtney King, Wyatt Pfau, Avinash Pyreddy, Marjan Rezaei, Katlyn Sawyer, Vatsala Singh, Jules Barklow, Noosha Farhat, Andrew Her, Carter Odean, Gregory Schleis, Chantal Underkofler, Hadley Bryan, Ryan Jollie, Kristin Maloney, Jennifer Marron, Ryan Miller, Maria Eleni Nikita, Knightess Oyibo, Kristi Silver, Hilary Whitlatch, Cindi Young, Kathleen Palmer, Stephanie Riley, Devon Nwaba, Elizabeth Streeten, Jessica Tiner, David Broome, Merve Celik-Gular, Tae-Hwa Chun, Anabela Dill Gomes, Maria Foss de Freitas, Brigid Gregg, Donatella Gilio, Seda Grigoryan, Diarratou Kaba, Melda Sonmez Ince, Adam Neidert, Carman Richison, Salman Imam, Jamie Diner, Cassandra Donahue, Rachael Fraser, Karla Fulghum, Faryal Gilani, Tahereh Ghorbani, Alex Kass, Nina Jain, Klara Klein, Lauren Larison, Brooke Matson, Catherine Morba, Chase Armstrong, Sue Kirkman, Jesica Baran, Rosanna Holod, Dori Khakpour, Patali Mandava, Lori Sameshima, Xiaofu Dong, Thanmai Kalerus, Beth Loots, Kathleen Santarelli, Cisco Pascual, Kevin Niswender, Norma Edwards, Justin Gregory, Alvin Powers, Andrea Ramirez, Fumihiko Urano, Samantha Adamson, Cris Brown, Joel Brune, Mary Jane Clifton, Jing Hughes, Stacy Hurst, Isabella Paolicelli, Brittany Zwijack, Toko Campbell, Jennifer May, Rajesh Adusumalli, Bruce Albritton, Analia Aquino, Paul Bransford, Nicholas Cadigan, Laura Gandolfo, Joseph Gomes, Robert Gowing, Juan Herrera, Callyn Kirk, Jean Morissette, Hemang M Parikh, Francisco Perez-Laras, Cassandra L Remedios, Lili Wurmser, Brandy Hutchinson, Sidhvi Nekkanti, MacKenzie Brandes, Noël Burtt, Jason Flannick, Ryan Koesterer, Phebe Olorunfemi, Ahmed Alkanaq, Lizz Caulkins, Clive Wasserfall, David Pittman, William Winter, David J Carey, Daniel Hood, Santica M Marcovina, Christopher B Newgard

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