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Diverse cell types establish a pathogenic immune environment in peripheral neuropathy Choi, Julie; Strickland, Amy; Loo, Hui Qi; Dong, Wendy; Barbar, Lilianne; Bloom, A. Joseph; Sasaki, Yo; Jin, Sheng Chih; Diantonio, Aaron; Milbrandt, Jeffrey Share Save
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Cerebellar Overgrowth Subtype of Chiari Malformation Type 1 and Genetic Dysregulation of PI3K Signaling Mekbib, Kedous Yared; Munoz, William; Allington, Garrett; Mcgee, Stephen; Kiziltug, Emre; Despenza, Tyrone; Fortes, Carla; Nelson-Williams, Carol; Mehta, Neel; Smith, Hannah; Zhao, Shujuan; Shofi, John; Ocken, Jack; Reeves, Benjamin; Greenberg, Ana; Kundishora, Adam; Moreno-De-Luca, Andres; Jin, Sheng Chih; Alper, Seth; Lifton, Richard P.; Butler, William; Kahle, Kristopher Thomas Share Save
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes Sierant, Michael C.; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U.; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; Lopez-Giraldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R.; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C.; Gruber, Peter J.; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J. William; King, Eileen; Srivastava, Deepak; Shen, Yufeng; Porter Jr, George A.; Newburger, Jane W.; Seidman, Jonathan G.; Roberts, Amy E.; Yandell, Mark; Yost, H. Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K.; Gelb, Bruce D.; Seidman, Christine E.; Brueckner, Martina; Lifton, Richard P. Share Save
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Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics DeSpenza Jr, Tyrone; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L.; Desmet, Nicole; Dang, Huy Q.; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y.; Dennis, Evan; Mehta, Neel H.; Duy, Phan Q.; Shimelis, Hermela; Walsh, Lauren K.; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M. R.; Constable, R. Todd; Hoffman, Ellen J.; Lifton, Richard P.; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L.; Jin, Sheng Chih; Kahle, Kristopher T.; Luikart, Bryan W. Share Save
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus Duy, Phan Q.; Jux, Bettina; Zhao, Shujuan; Mekbib, Kedous Y.; Dennis, Evan; Dong, Weilai; Nelson-Williams, Carol; Mehta, Neel H.; Shohfi, John P.; Juusola, Jane; Allington, Garrett; Smith, Hannah; Marlin, Sandrine; Belhous, Kahina; Monteleone, Berrin; Schaefer, G. Bradley; Pisarska, Margareta D.; Vasquez, Jaime; Estrada-Veras, Juvianee, I; Keren, Boris; Mignot, Cyril; Flore, Leigh A.; Palafoll, Irene, V; Alper, Seth L.; Lifton, Richard P.; Haider, Shozeb; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kolanus, Waldemar; Kahle, Kristopher T. Share Save
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency Tafaleng, Edgar N.; Li, Jie; Wang, Yan; Hidvegi, Tunda; Soto-Gutierrez, Alex; Locke, Adam E.; Nicholas, Thomas J.; Wang, Yung-Chun; Pak, Stephen; Cho, Michael H.; Silverman, Edwin K.; Silverman, Gary A.; Jin, Sheng Chih; Fox, Ira J.; Perlmutter, David H. Share Save
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease Mishra-Gorur, Ketu; Barak, Tanyeri; Kaulen, Leon D.; Henegariu, Octavian; Jin, Sheng Chih; Aguilera, Stephanie Marie; Yalbir, Ezgi; Goles, Gizem; Nishimura, Sayoko; Miyagishima, Danielle; Djenoune, Lydia; Altinok, Selin; Rai, Devendra K.; Viviano, Stephen; Prendergast, Andrew; Zerillo, Cynthia; Ozcan, Kent; Baran, Burcin; Sencar, Leman; Goc, Nukte; Yarman, Yanki; Ercan-encicek, A. Gulhan; Bilguvar, Kaya; Lifton, Richard P.; Moliterno, Jennifer; Louvi, Angeliki; Yuan, Shiaulou; Deniz, Engin; Brueckner, Martina; Gunel, Murat Share Save
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus Singh, Amrita K.; Allington, Garrett; Viviano, Stephen; McGee, Stephen; Kiziltug, Emre; Ma, Shaojie; Zhao, Shujuan; Mekbib, Kedous Y.; Shohfi, John P.; Duy, Phan Q.; DeSpenza, Tyrone; Furey, Charuta G.; Reeves, Benjamin C.; Smith, Hannah; Sousa, Andre M. M.; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R. A.; Alper, Seth L.; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K.; Lifton, Richard P.; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T. Share Save
Human genetics and molecular genomics of Chiari malformation type 1 Mekbib, Kedous Y.; Munoz, William; Allington, Garrett; Mcgee, Stephen; Mehta, Neel H.; Shofi, John P.; Fortes, Carla; Le, Hao Thi; Nelson-Williams, Carol; Nanda, Pranav; Dennis, Evan; Kundishora, Adam J.; Khanna, Arjun; Smith, Hannah; Ocken, Jack; Greenberg, Ana B. W.; Wu, Rui; Moreno-De-Luca, Andres; DeSpenza Jr, Tyrone; Zhao, Shujuan; Marlier, Arnaud; Jin, Sheng Chih; Alper, Seth L.; Butler, William E.; Kahle, Kristopher T. Share Save
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations Zhao, Shujuan; Mekbib, Kedous Y.; van der Ent, Martijn A.; Allington, Garrett; Prendergast, Andrew; Chau, Jocelyn E.; Smith, Hannah; Shohfi, John; Ocken, Jack; Duran, Daniel; Furey, Charuta G.; Hao, Le Thi; Duy, Phan Q.; Reeves, Benjamin C.; Zhang, Junhui; Nelson-Williams, Carol; Chen, Di; Li, Boyang; Nottoli, Timothy; Bai, Suxia; Rolle, Myron; Zeng, Xue; Dong, Weilai; Fu, Po-Ying; Wang, Yung-Chun; Mane, Shrikant; Piwowarczyk, Paulina; Fehnel, Katie Pricola; See, Alfred Pokmeng; Iskandar, Bermans J.; Aagaard-Kienitz, Beverly; Moyer, Quentin J.; Dennis, Evan; Kiziltug, Emre; Kundishora, Adam J.; DeSpenza Jr, Tyrone; Greenberg, Ana B. W.; Kidanemariam, Seblewengel M.; Hale, Andrew T.; Johnston, James M.; Jackson, Eric M.; Storm, Phillip B.; Lang, Shih-Shan; Butler, William E.; Carter, Bob S.; Chapman, Paul; Stapleton, Christopher J.; Patel, Aman B.; Rodesch, Georges; Smajda, Stanislas; Berenstein, Alejandro; Barak, Tanyeri; Erson-Omay, E. Zeynep; Zhao, Hongyu; Moreno-De-Luca, Andres; Proctor, Mark R.; Smith, Edward R.; Orbach, Darren B.; Alper, Seth L.; Nicoli, Stefania; Boggon, Titus J.; Lifton, Richard P.; Gunel, Murat; King, Philip D.; Jin, Sheng Chih; Kahle, Kristopher T. Share Save
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children Ahmad, Natalie; Fazeli, Walid; Schliesske, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep; Mekbib, Kedous Y.; Jin, Sheng Chih; Burton, Jennifer; Hoganson, George; Petersen, Andrea; Gracie, Sara; Granger, Leslie; Bartels, Enrika; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Danger, Shane; Viskochil, David; Anderson, Katherine J.; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E.; Kahle, Kristopher T.; Kunz, Wolfram S.; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich; Abou Jamra, Rami; Neuser, Sonja Share Save
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions Almousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gozde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C. Share Save
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease Pinard, Amelie; Ye, Wenlei; Fraser, Stuart M.; Rosenfeld, Jill A.; Pichurin, Pavel; Hickey, Scott E.; Guo, Dongchuan; Cecchi, Alana C.; Boerio, Maura L.; Guey, Stephanie; Aloui, Chaker; Lee, Kwanghyuk; Kraemer, Markus; Alyemni, Saleh Omar; Bamshad, Michael J.; Nickerson, Deborah A.; Tournier-Lasserve, Elisabeth; Haider, Shozeb; Jin, Sheng Chih; Smith, Edward R.; Kahle, Kristopher T.; Jan, Lily Yeh; He, Mu; Milewicz, Dianna M. Share Save
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