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NAD plus Suppresses EV-D68 Infection by Enhancing Anti-Viral Effect of SIRT1 Wang, Yue; Li, Haiyu; Huang, Xia; Huang, Yan; Lv, Mingqi; Tang, Hong; Han, Xinyue; Liu, Juntong; Liang, Yan; Zang, Guangchao; Lu, Nan; Zhang, Guangyuan Share Save
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis Frost, F. Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G.; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M.; Ferreira, Elise A.; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T.; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I.; Steinbach, Peter J.; Huang, Yan; Pusey, Barbara N.; Passemard, Sandrine; Levy, Jonathan; Drunat, Severine; Vincent, Marie; Guet, Agnes; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A.; Murphy, Jennifer L.; Lupski, James R.; Vezina, Gilbert; Macnamara, Ellen F.; Adams, David R.; Acosta, Maria T.; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V. Share Save
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability Huang, Yan; Lemire, Gabrielle; Briere, Lauren C.; Liu, Fang; Wessels, Marja W.; Wang, Xueqi; Osmond, Matthew; Kanca, Oguz; Lu, Shenzhao; High, Frances A.; Walker, Melissa A.; Rodan, Lance H.; Kernohan, Kristin D.; Sweetser, David A.; Boycott, Kym M.; Bellen, Hugo J. Share Save
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures Lu, Shenzhao; Hernan, Rebecca; Marcogliese, Paul C.; Huang, Yan; Gertler, Tracy S.; Akcaboy, Meltem; Liu, Shiyong; Chung, Hyung-lok; Pan, Xueyang; Sun, Xiaoqin; Oguz, Melahat Melek; Oztoprak, Ulkuhan; de Baaij, Jeroen H. F.; Ivanisevic, Jelena; McGinnis, Erin; Sacoto, Maria J. Guillen; Chung, Wendy K.; Bellen, Hugo J. Share Save
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms Huang, Yan; Ma, Mengqi; Mao, Xiao; Pehlivan, Davut; Kanca, Oguz; Un-Candan, Feride; Shu, Li; Akay, Gulsen; Mitani, Tadahiro; Lu, Shenzhao; Candan, Sukru; Wang, Hua; Xiao, Bo; Lupski, James R.; Bellen, Hugo J. Share Save
Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis Bhuyan, Farzana; de Jesus, Adriana A.; Mitchell, Jacob; Leikina, Evgenia; VanTries, Rachel; Herzog, Ronit; Onel, Karen B.; Oler, Andrew; Montealegre Sanchez, Gina A.; Johnson, Kim A.; Bichell, Lena; Marrero, Bernadette; De Castro, Luis Fernandez; Huang, Yan; Calvo, Katherine R.; Collins, Michael T.; Ganesan, Sundar; Chernomordik, Leonid V.; Ferguson, Polly J.; Goldbach-Mansky, Raphaela Share Save
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome Johnstone, Thomas; Wang, Jennifer; Ross, Daron; Balanda, Nicholas; Huang, Yan; Godfrey, Rena; Groden, Catherine; Barton, Brandon R.; Gahl, William; Toro, Camilo; Malicdan, May Christine, V Share Save
yippee like 3 (ypel3)is a novel gene required for myelinating and perineurial glia development Blanco-Sanchez, Bernardo; Clement, Aurelie; Stednitz, Sara J.; Kyle, Jennifer; Peirce, Judy L.; McFadden, Marcie; Wegner, Jeremy; Phillips, Jennifer B.; Macnamara, Ellen; Huang, Yan; Adams, David R.; Toro, Camilo; Gahl, William A.; Malicdan, May Christine, V; Tifft, Cynthia J.; Zink, Erika M.; Bloodsworth, Kent J.; Stratton, Kelly G.; Koeller, David M.; Metz, Thomas O.; Washbourne, Philip; Westerfield, Monte Share Save
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay Huang, Yan; Mao, Xiao; van Jaarsveld, Richard H.; Shu, Li; Terhal, Paulien A.; Jia, Zhengjun; Xi, Hui; Peng, Ying; Yan, Huiming; Yuan, Shan; Li, Qibin; Wang, Hua; Bellen, Hugo J. Share Save
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases de Jesus, Adriana A.; Hou, Yangfeng; Brooks, Stephen; Malle, Louise; Biancotto, Angelique; Huang, Yan; Calvo, Katherine R.; Marrero, Bernadette; Moir, Susan; Oler, Andrew J.; Deng, Zuoming; Sanchez, Gina A. Montealegre; Ahmed, Amina; Allenspach, Eric; Arabshahi, Bita; Behrens, Edward; Benseler, Susanne; Bezrodnik, Liliana; Bout-Tabaku, Sharon; Brescia, AnneMarie C.; Brown, Diane; Burnham, Jon M.; Soledad Caldirola, Maria; Carrasco, Ruy; Chan, Alice Y.; Cimaz, Rolando; Dancey, Paul; Dare, Jason; DeGuzman, Marietta; Dimitriades, Victoria; Ferguson, Ian; Ferguson, Polly; Finn, Laura; Gattorno, Marco; Grom, Alexei A.; Hanson, Eric P.; Hashkes, Philip J.; Hedrich, Christian M.; Herzog, Ronit; Horneff, Gerd; Jerath, Rita; Kessler, Elizabeth; Kim, Hanna; Kingsbury, Daniel J.; Laxer, Ronald M.; Lee, Pui Y.; Lee-Kirsch, Min Ae; Lewandowski, Laura; Li, Suzanne; Lilleby, Vibke; Mammadova, Vafa; Moorthy, Lakshmi N.; Nasrullayeva, Gulnara; O'Neil, Kathleen M.; Onel, Karen; Ozen, Seza; Pan, Nancy; Pillet, Pascal; Piotto, Daniela G. P.; Punaro, Marilynn G.; Reiff, Andreas; Reinhardt, Adam; Rider, Lisa G.; Rivas-Chacon, Rafael; Ronis, Tova; Roesen-Wolff, Angela; Roth, Johannes; Ruth, Natasha Mckerran; Rygg, Marite; Schmeling, Heinrike; Schulert, Grant; Scott, Christiaan; Seminario, Gisella; Shulman, Andrew; Sivaraman, Vidya; Son, Mary Beth; Stepanovskiy, Yuriy; Stringer, Elizabeth; Taber, Sara; Terreri, Maria Teresa; Tifft, Cynthia; Torgerson, Troy; Tosi, Laura; Van Royen-Kerkhof, Annet; Muskardin, Theresa Wampler; Canna, Scott W.; Goldbach-Mansky, Raphaela Share Save
Alcohol promotes renal fibrosis by activating Nox2/4-mediated DNA methylation of Smad7 Yang, Qin; Chen, Hai-Yong; Wang, Jia-nan; Han, Huai-Qin; Jiang, Ling; Wu, Wei-Feng; Wei, Biao; Gao, Li; Ma, Qiu-ying; Liu, Xue-qi; Chen, Qi; Wen, Jia-gen; Jin, Juan; Huang, Yan; Ni, Wei-jian; Ma, Tao-tao; Li, Jun; Meng, Xiao-Ming Share Save
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification Nicoli, Elena-Raluca; Weston, Mary R.; Hackbarth, Mary; Becerril, Alissa; Larson, Austin; Zein, Wadih M.; Baker, Peter R., II; Burke, John Douglas; Dorward, Heidi; Davids, Mariska; Huang, Yan; Adams, David R.; Zerfas, Patricia M.; Chen, Dong; Markello, Thomas C.; Toro, Camilo; Wood, Tim; Elliott, Gene; Vu, Mylinh; Zheng, Wei; Garrett, Lisa J.; Tifft, Cynthia J.; Gahl, William A.; Day-Salvatore, Debra L.; Mindell, Joseph A.; Malicdan, May Christine V. Share Save
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Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy Stephen, Joshi; Nampoothiri, Sheela; Banerjee, Aditi; Tolman, Nathanial J.; Penninger, Josef Martin; Elling, Ullrich; Agu, Chukwuma A.; Burke, John D.; Devadathan, Kalpana; Kannan, Rajesh; Huang, Yan; Steinbach, Peter J.; Martinis, Susan A.; Gahl, William A.; Malicdan, May Christine V. Share Save
Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients Kim, Hanna; Brooks, Kristina M.; Tang, Cheng Cai; Wakim, Paul; Blake, Mary; Brooks, Stephen R.; Sanchez, Gina A. Montealegre; de Jesus, Adriana A.; Huang, Yan; Tsai, Wanxia Li; Gadina, Massimo; Prakash, Apurva; Janes, Jonathan Marcus; Zhang, Xin; Macias, William L.; Kumar, Parag; Goldbach-Mansky, Raphaela Share Save
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience Gall, Timothy; Valkanas, Elise; Bello, Christofer; Markello, Thomas; Adams, Christopher; Bone, William P.; Brandt, Alexander J.; Brazill, Jennifer M.; Carmichael, Lynn; Davids, Mariska; Davis, Joie; Diaz-Perez, Zoraida; Draper, David; Elson, Jeremy; Flynn, Elise D.; Godfrey, Rena; Groden, Catherine; Hsieh, Cheng-Kang; Fischer, Roxanne; Golas, Gretchen A.; Guzman, Jessica; Huang, Yan; Kane, Megan S.; Lee, Elizabeth; Li, Chong; Links, Amanda E.; Maduro, Valerie; Malicdan, May Christine V.; Malik, Fayeza S.; Nehrebecky, Michele; Park, Joun; Pemberton, Paul; Schaffer, Katherine; Simeonov, Dimitre; Sincan, Murat; Smedley, Damian; Valivullah, Zaheer; Wahl, Colleen; Washington, Nicole; Wolfe, Lynne A.; Xu, Karen; Zhu, Yi; Gahl, William A.; Tifft, Cynthia J.; Toro, Camillo; Adams, David R.; He, Miao; Robinson, Peter N.; Haendel, Melissa A.; Zhai, R. Grace; Boerkoel, Cornelius F. Share Save
Cerebrospinal Fluid Cytokines Correlate With Aseptic Meningitis and Blood-Brain Barrier Function in Neonatal-Onset Multisystem Inflammatory Disease: Central Nervous System Biomarkers in Neonatal-Onset Multisystem Inflammatory Disease Correlate With Central Nervous System Inflammation Rodriguez-Smith, Jackeline; Lin, Yen-Chih; Tsai, Wanxia Li; Kim, Hanna; Montealegre-Sanchez, Gina; Chapelle, Dawn; Huang, Yan; Sibley, Cailin H.; Gadina, Massimo; Wesley, Robert; Bielekova, Bibiana; Goldbach-Mansky, Raphaela Share Save
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13 Zhang, Yihan; Huang, Haigen; Zhao, Gexin; Yokoyama, Tadafumi; Vega, Hugo; Huang, Yan; Sood, Raman; Bishop, Kevin; Maduro, Valerie; Accardi, John; Toro, Camilo; Boerkoel, Cornelius F.; Lyons, Karen; Gahl, William A.; Duan, Xiaohong; Malicdan, May Christine V.; Lin, Shuo Share Save
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