Not logged in Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants Allen, James P.; Garber, Kathryn B.; Perszyk, Riley; Khayat, Cara T.; Kell, Steven A.; Kaneko, Maki; Quindipan, Catherine; Saitta, Sulagna; Ladda, Roger L.; Hewson, Stacy; Inbar-Feigenberg, Michal; Prasad, Chitra; Prasad, Asuri N.; Olewiler, Leah; Mu, Weiyu; Rosenthal, Liana S.; Scala, Marcello; Striano, Pasquale; Zara, Federico; McCullock, Tyler W.; Jauss, Robin-Tobias; Lemke, Johannes R.; MacLean, David M.; Zhu, Cheng; Yuan, Hongjie; Myers, Scott J.; Traynelis, Stephen F. Share Save
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families Jain, Vani; Foo, Seow Hoong; Chooi, Stephen; Moss, Celia; Goodwin, Richard; Berland, Siren; Clarke, Angus J.; Davies, Sally J.; Corrin, Sian; Murch, Oliver; Doyle, Samantha; Graham, Gail E.; Greenhalgh, Lynn; Holder, Susan E.; Johnson, Diana; Kumar, Ajith; Ladda, Roger L.; Sell, Susan; Begtrup, Amber; Lynch, Sally A.; Mccann, Emma; Ostern, Rune; Pottinger, Caroline; Splitt, Miranda; Fry, Andrew E. Share Save
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies Smallwood, Kelly; Watt, Kristin E. N.; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P.; Begtrup, Amber; Bertola, Debora R.; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R.; Sacoto, Maria J. Guillen; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A.; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J.; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L.; Slavotinek, Anne; Sullivan, Bonnie R.; Stark, Zornitza; Symonds, Joseph D.; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M.; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W.; Trainor, Paul A.; Weaver, K. Nicole Share Save
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
PIGG variant pathogenicity assessment reveals characteristic features within 19 families Tremblay-Laganiere, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M. S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rusch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko 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
Redefining the Etiologic Landscape of Cerebellar Malformations Aldinger, Kimberly A.; Timms, Andrew E.; Thomson, Zachary; Mirzaa, Ghayda M.; Bennett, James T.; Rosenberg, Alexander B.; Roco, Charles M.; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi, V; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M.; Alkuraya, Fowzan S.; Biesecker, Leslie G.; Braddock, Stephen R.; Cathey, Sara; Cho, Megan T.; Chung, Brian H. Y.; Everman, David B.; Zarate, Yuri A.; Jones, Julie R.; Schwartz, Charles E.; Goldstein, Amy; Hopkin, Robert J.; Krantz, Ian D.; Ladda, Roger L.; Leppig, Kathleen A.; McGillivray, Barbara C.; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G.; Nickerson, Deborah A.; Bamshad, Michael J.; Gerrelli, Dianne; Lisgo, Steven N.; Seelig, Georg; Ishak, Gisele E.; Barkovich, A. James; Curry, Cynthia J.; Glass, Ian A.; Millen, Kathleen J.; Doherty, Dan; Dobyns, William B. Share Save
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans Duijkers, Floor A.; McDonald, Andrew; Janssens, Georges E.; Lezzerini, Marco; Jongejan, Aldo; van Koningsbruggen, Silvana; Leeuwenburgh-Pronk, Wendela G.; Wlodarski, Marcin W.; Moutton, Sebastien; Tran-Mau-Them, Frederic; Thauvin-Robinet, Christel; Faivre, Laurence; Monaghan, Kristin G.; Smol, Thomas; Boute-Benejean, Odile; Ladda, Roger L.; Sell, Susan L.; Bruel, Ange-Line; Houtkooper, Riekelt H.; MacInnes, Alyson W. Share Save
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (vol 104, pg 139, 2019) Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M. H. F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlene; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M. P. C. D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Schwoerer, Jessica Scott; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M. H.; Brimble, Elise; Ruzhnikov, Maura R. Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B. A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E. L. M. Share Save
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M. H. F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlene; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M. P. C. D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Schwoerer, Jessica Scott; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M. H.; Brimble, Elise; Ruznikov, Maura R. Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B. A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E. L. M. Share Save
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus Beunders, Gea; Voorhoeve, Els; Golzio, Christelle; Pardo, Luba M.; Rosenfeld, Jill A.; Talkowski, Michael E.; Simonic, Ingrid; Lionel, Anath C.; Vergult, Sarah; Pyatt, Robert E.; van de Kamp, Jiddeke; Nieuwint, Aggie; Weiss, Marjan M.; Rizzu, Patrizia; Verwer, Lucilla E. N. I.; van Spaendonk, Rosalina M. L.; Shen, Yiping; Wu, Bai-lin; Yu, Tingting; Yu, Yongguo; Chiang, Colby; Gusella, James F.; Lindgren, Amelia M.; Morton, Cynthia C.; van Binsbergen, Ellen; Bulk, Saskia; van Rossem, Els; Vanakker, Olivier; Armstrong, Ruth; Park, Soo-Mi; Greenhalgh, Lynn; Maye, Una; Neill, Nicholas J.; Abbott, Kristin M.; Sell, Susan; Ladda, Roger; Farber, Darren M.; Bader, Patricia I.; Cushing, Tom; Drautz, Joanne M.; Konczal, Laura; Nash, Patricia; de Los Reyes, Emily; Carter, Melissa T.; Hopkins, Elizabeth; Marshall, Christian R.; Osborne, Lucy R.; Gripp, Karen W.; Thrush, Devon Lamb; Hashimoto, Sayaka; Gastier-Foster, Julie M.; Astbury, Caroline; Ylstra, Bauke; Meijers-Heijboer, Hanne; Posthuma, Danielle; Menten, Bjoern; Mortier, Geert; Scherer, Stephen W.; Eichler, Evan E.; Girirajan, Santhosh; Katsanis, Nicholas; Groffen, Alexander J.; Sistermans, Erik A. Share Save
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features Lamb, Allen N.; Rosenfeld, Jill A.; Neill, Nicholas J.; Talkowski, Michael E.; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia I.; Rosenbaum, Kenneth; Vallee, Stephanie E.; Moeschler, John B.; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C.; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andree; Heron-Longe, Benedicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M.; Opheim, Kent E.; Descartes, Maria; Eichler, Evan E.; Morton, Cynthia C.; Gusella, James F.; Schultz, Roger A.; Ballif, Blake C.; Shaffer, Lisa G. Share Save
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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44 Ballif, Blake C.; Rosenfeld, Jill A.; Traylor, Ryan; Theisen, Aaron; Bader, Patricia I.; Ladda, Roger L.; Sell, Susan L.; Steinraths, Michelle; Surti, Urvashi; McGuire, Marianne; Williams, Shelley; Farrell, Sandra A.; Filiano, James; Schnur, Rhonda E.; Covey, Lauren B.; Tervo, Raymond C.; Stroud, Tracy; Marble, Michael; Netzloff, Michael; Hanson, Kristen; Aylsworth, Arthur S.; Bamforth, J. S.; Babu, Deepti; Niyazov, Dmitriy M.; Ravnan, J. Britt; Schultz, Roger A.; Lamb, Allen N.; Torchia, Beth S.; Bejjani, Bassem A.; Shaffer, Lisa G. Share Save
Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria O'Driscoll, Mary C.; Daly, Sarah B.; Urquhart, Jill E.; Black, Graeme C. M.; Pilz, Daniela T.; Brockmann, Knut; McEntagart, Meriel; Abdel-Salam, Ghada; Zaki, Maha; Wolf, Nicole I.; Ladda, Roger L.; Sell, Susan; D'Arrigo, Stefano; Squier, Waney; Dobyns, William B.; Liyingston, John H.; Crow, Yanick J. Share Save
Hershey Medical Center Technical Workshop Report:: Optimizing the design and interpretation of epiderniologic studies for assessing neurodevelopmental effects from in utero chemical exposure Amler, Robert W.; Barone, Stanley, Jr.; Belgerc, Aysenil; Berlin, Cheston M., Jr.; Cox, Christopher; Frank, Harry; Goodman, Michael; Harry, Jean; Hooper, Stephen R.; Ladda, Roger; LaKind, Judy S.; Lipkin, Paul H.; Lipsitt, Lewis P.; Lorber, Matthew N.; Myers, Gary; Mason, Ann M.; Needham, Larry L.; Sonawane, Babasaheb; Wachs, Theodore D.; Yager, Janice W. Share Save
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