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Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5 Shinawi, Marwan; Wegner, Daniel J.; Paul, Alexander J.; Buchser, William; Schmidt, Robert; Sharma, Jaiprakash; Sardiello, Marco; Sisco, Kathleen; Manwaring, Linda; Reynolds, Margaret; Fulton, Robert; Fronick, Catrina; Shaver, Andrew; Huang, Tina Y.; Carroll, Ashley; Roessler, Kyria; Halpern, Aaron L.; Dickson, Patricia I.; Wambach, Jennifer A. Share Save
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities Moulton, Matthew J.; Atala, Kristhen; Zheng, Yiming; Dutta, Debdeep; Grange, Dorothy K.; Lin, Wen -Wen; Wegner, Daniel J.; Wambach, Jennifer A.; Duker, Angela L.; Bober, Michael B.; Kratz, Lisa; Wise, Carol A.; Oxendine, Ila; Khanshour, Anas; Wangler, Michael F.; Yamamoto, Shinya; Cole, F. Sessions; Rios, Jonathan; Bellen, Hugo J. Share Save
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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
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Bi-allelic variants in INTS11 are associated with a complex neurological disorder Tepe, Burak; Macke, Erica L.; Niceta, Marcello; Hubshman, Monika Weisz; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; De Luque, Jorge Luis Granadillo; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A.; Prabhakar, Prab; Gosswein, Sophie; Di Donato, Nataliya; Bertini, Enrico S.; Wangler, Michael F.; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W.; Bellen, Hugo J. Share Save
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Thermally induced magnetic order from glassiness in elemental neodymium Verlhac, Benjamin; Niggli, Lorena; Bergman, Anders; Kamber, Umut; Bagrov, Andrey; Iusan, Diana; Nordstrom, Lars; Katsnelson, Mikhail, I; Wegner, Daniel; Eriksson, Olle; Khajetoorians, Alexander A. Share Save
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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease A Randomized Clinical Trial Krantz, Ian D.; Medne, Livija; Weatherly, Jamila M.; Wild, Taylor; Biswas, Sawona; Devkota, Batsal; Hartman, Tiffiney; Brunelli, Luca; Fishler, Kristen P.; Abdul-Rahman, Omar; Euteneuer, Joshua C.; Hoover, Denise; Dimmock, David; Cleary, John; Farnaes, Lauge; Knight, Jason; Schwarz, Adamj.; Vargas-Shiraishi, Ofelia M.; Wigby, Kristin; Zadeh, Neda; Shinawi, Marwan; Wambach, Jennifer A.; Baldridge, Dustin; Cole, F. Sessions; Wegner, Daniel J.; Urraca, Nora; Holtrop, Shannon; Mostafavi, Roya; Mroczkowski, Henry J.; Pivnick, Eniko K.; Ward, Jewell C.; Talati, Ajay; Brown, Chester W.; Belmont, Johnw.; Ortega, Julia L.; Robinson, Keisha D.; Brocklehurst, W. Tyler; Perry, Denise L.; Ajay, Subramanian S.; Hagelstrom, R. Tanner; Bennett, Maren; Rajan, Vani; Taft, Ryan J. Share Save
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P. Share Save
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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases Kobren, Shilpa Nadimpalli; Baldridge, Dustin; Velinder, Matt; Krier, Joel B.; LeBlanc, Kimberly; Esteves, Cecilia; Pusey, Barbara N.; Zuchner, Stephan; Blue, Elizabeth; Lee, Hane; Huang, Alden; Bastarache, Lisa; Bican, Anna; Cogan, Joy; Marwaha, Shruti; Alkelai, Anna; Murdock, David R.; Liu, Pengfei; Wegner, Daniel J.; Paul, Alexander J.; Sunyaev, Shamil R.; Kohane, Isaac S. Share Save
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration Polovitskaya, Maya M.; Barbini, Carlo; Martinelli, Diego; Harms, Frederike L.; Cole, F. Sessions; Calligari, Paolo; Bocchinfuso, Gianfranco; Stella, Lorenzo; Ciolfi, Andrea; Niceta, Marcello; Rizza, Teresa; Shinawi, Marwan; Sisco, Kathleen; Johannsen, Jessika; Denecke, Jonas; Carrozzo, Rosalba; Wegner, Daniel J.; Kutsche, Kerstin; Tartaglia, Marco; Jentsch, Thomas J. Share Save
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Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants Hu, June Y.; Yang, Ping; Wegner, Daniel J.; Heins, Hillary B.; Luke, Cliff J.; Li, Fuhai; White, Frances V.; Silverman, Gary A.; Cole, F. Sessions; Wambach, Jennifer A. Share Save
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