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RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency Silverstein, Sarah; Cassini, Thomas; Fu, Jiayu; Pusey, Barbara; Macnamara, Ellen; Frost, F. Graeme; Williams, Charlotte; Huang, Yan; Tifft, Cynthia J.; Gahl, William; Malicdan, May-Christine; Adams, David R. Share Save
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G.; Adam, Margaret P.; Adams, David; Baple, Emma L.; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H.; D'Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martin-Nalda, Andrea; Mefford, Heather C.; Moratto, Daniele; Mousavi, Fatemeh Emam; Nelson, Zoe; Gutierrez-Solana, Luis Gonzalez; Macnamara, Ellen; Michaud, Vincent; O'Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D.; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; Stoddard, Jennifer L.; Uhlig, Holm H.; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea Share Save
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies Brooks, Daniel; Burke, Elizabeth; Lee, Sukyeong; Eble, Tanya N.; O'Leary, Melanie; Osei-Owusu, Ikeoluwa; Rehm, Heidi L.; Dhar, Shweta U.; Emrick, Lisa; Bick, David; Nehrebecky, Michelle; Macnamara, Ellen; Casas-Alba, Didac; Armstrong, Judith; Prat, Carolina; Martinez-Monseny, Antonio F.; Palau, Francesc; Liu, Pengfei; Adams, David; Lalani, Seema; Rosenfeld, Jill A.; Burrage, Lindsay C. Share Save
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability Dutta, Debdeep; Kanca, Oguz; Shridharan, Rishi V.; Marcogliese, Paul C.; Steger, Benjamin; Morimoto, Marie; Frost, F. Graeme; Macnamara, Ellen; Wangler, Michael F.; Yamamoto, Shinya; Jenny, Andreas; Adams, David; Malicdan, May C.; Bellen, Hugo J. Share Save
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects Nagy, Amanda; Molay, Francine; Hargadon, Sarah; Pires, Claudia Brito; Grant, Natalie; Abreu, Lizbeth de la Rosa; Chen, Jin Yun; D'Souza, Precilla; Macnamara, Ellen; Tifft, Cynthia; Becker, Catherine; De Gusmao, Claudio Melo; Khurana, Vikram; Neumeyer, Ann M.; Eichler, Florian S. Share Save
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program Macnamara, Ellen F.; Loydpierson, Amelia; Latour, Yvonne L.; D'Souza, Precilla; Murphy, Jennifer; Wolfe, Lynne; Estwick, Tyra; Johnston, Jean M.; Yang, John; Undiagnosed Diseases Network, Maria T.; Acosta, Maria T.; Lee, Paul R.; Pierson, Tyler Mark; Soldatos, Ariane; Toro, Camilo; Markello, Tom; Adams, David R.; Gahl, William A.; Yousef, Muhammad; Tifft, Cynthia J. Share Save
Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features Andrews, Jonathan C.; Mok, Jung-Wan; Kanca, Oguz; Jangam, Sharayu; Tifft, Cynthia; Macnamara, Ellen F.; Russell, Bianca E.; Wang, Lee-kai; Nelson, Stanley F.; Bellen, Hugo J.; Yamamoto, Shinya; Malicdan, May Christine V.; Wangler, Michael F. 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
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome Soldatos, Ariane; Nutman, Thomas B.; Johnson, Tory; Dowell, Scott F.; Sejvar, James J.; Wilson, Michael R.; DeRisi, Joseph L.; Inati, Sara K.; Groden, Catherine; Evans, Colleen; O'Connell, Elise M.; Toliva, Bernard Opar; Aceng, Jane R.; Aryek-Kwe, Josephine; Toro, Camilo; Stratakis, Constantine A.; Buckler, A. Gretchen; Cantilena, Cathy; Palmore, Tara N.; Thurm, Audrey; Baker, Eva H.; Chang, Richard; Fauni, Harper; Adams, David; Macnamara, Ellen F.; Lau, C. Christopher; Malicdan, May Christine, V; Pusey-Swerdzewski, Barbara; Downing, Robert; Bunga, Sudhir; Thomas, Jerry D.; Gahl, William A.; Nath, Avindra Share Save
Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder Grosso, Benjamin J.; Kramer, Audra A.; Tyagi, Sidharth; Bennett, Daniel F.; Tifft, Cynthia J.; D'Souza, Precilla; Wangler, Michael F.; Macnamara, Ellen F.; Meza, Ulises; Bannister, Roger A. Share Save
EIF3F compound heterozygous genotype-phenotype association Nicoli, Elena-Raluca; Streata, Ioana; Yang, John; Macnamara, Ellen; Wolfe, Lynne; Garcia, Karolyn; Ciurea, Tudorel; Ioana, Mihai; Gahl, William; Tifft, Cynthia; Acosta, Maria; Adams, David Share Save
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (vol 23, pg 740, 2021) Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P. N.; van Lint, Alida E. M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J. Guillen; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J. G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Cassiman, David; Vaz, Frederic M. Share Save
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA Boulin, Thomas; Itani, Omar; El Mouridi, Sonia; Leclercq-Blondel, Alice; Gendrel, Marie; Macnamara, Ellen; Soldatos, Ariane; Murphy, Jennifer L.; Gorman, Mark P.; Lindsey, Anika; Shimada, Shino; Turner, Darian; Silverman, Gary A.; Baldridge, Dustin; Malicdan, May C.; Schedl, Tim; Pak, Stephen C. Share Save
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Galosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo 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
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P. N.; van Lint, Alida E. M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J. Guillen; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J. G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Cassiman, David; Vaz, Frederic M. Share Save
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