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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway Gong, Maolei; Li, Jiayi; Qin, Zailong; Wilke, Matheus Vernet Machado Bressan; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel A.; Cohen, Ana S. A.; Hughes, Susan S.; Sullivan, Bonnie R.; Waddell, Valerie; van den Boogaard, Marie-Jose H.; van Jaarsveld, Richard H.; van Binsbergen, Ellen; van Gassen, Koen L.; Wang, Tianyun; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley, V; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole J.; Ferber, Matthew J.; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques L.; Koboldt, Daniel C.; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laila; Haque, Neshatul; Dsouza, Nikita R.; Zimmermann, Michael T.; Urrutia, Raul; Klee, Eric W.; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli Share Save
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation Bhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenco, Charles Marques; Stoler, Joan M.; Louie, Raymond J.; Clarkson, Lola K.; Lichty, Angie; Koboldt, Daniel C.; Reshmi, Shalini C.; Sisodiya, Sanjay M.; van Konijnenburg, Eva M. M. Hoytema; Koop, Klaas; Hasselt, Peter M. van; Demurger, Florence; Dubourg, Christele; Sullivan, Bonnie R.; Hughes, Susan S.; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M. 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
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
Insurance denials and diagnostic rates in a pediatric genomic research cohort Zion, Tricia N.; Berrios, Courtney D.; Cohen, Ana S. A.; Bartik, Lauren; Cross, Laura A.; Engleman, Kendra L.; Fleming, Emily A.; Gadea, Randi N.; Hughes, Susan S.; Jenkins, Janda L.; Kussmann, Jennifer; Lawson, Caitlin; Schwager, Caitlin; Strenk, Meghan E.; Welsh, Holly; Rush, Eric T.; Amudhavalli, Shivarajan M.; Sullivan, Bonnie R.; Zhou, Dihong; Gannon, Jennifer L.; Heese, Bryce A.; Moore, Riley; Boillat, Emelia; Biswell, Rebecca L.; Louiselle, Daniel A.; Puckett, Laura M. B.; Beyer, Shanna; Neal, Shelby H.; Sierant, Victoria; McBeth, Macy; Belden, Bradley; Walter, Adam M.; Gibson, Margaret; Cheung, Warren A.; Johnston, Jeffrey J.; Thiffault, Isabelle; Farrow, Emily G.; Grundberg, Elin; Pastinen, Tomi Share Save
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M. Share Save
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems Kolvenbach, Caroline M.; Felger, Tim; Schierbaum, Luca; Thiffault, Isabelle; Pastinen, Tomi; Szczepanska, Maria; Zaniew, Marcin; Adamczyk, Piotr; Bayat, Allan; Yilmaz, Oeznur; Lindenberg, Tobias T.; Thiele, Holger; Hildebrandt, Friedhelm; Hinderhofer, Katrin; Moog, Ute; Hilger, Alina C.; Sullivan, Bonnie; Bartik, Lauren; Gnys, Piotr; Grote, Phillip; Odermatt, Benjamin; Reutter, Heiko M.; Dworschak, Gabriel C. Share Save
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes Cohen, Ana S. A.; Farrow, Emily G.; Abdelmoity, Ahmed T.; Alaimo, Joseph T.; Amudhavalli, Shivarajan M.; Anderson, John T.; Bansal, Lalit; Bartik, Lauren; Baybayan, Primo; Belden, Bradley; Berrios, Courtney D.; Biswell, Rebecca L.; Buczkowicz, Pawel; Buske, Orion; Chakraborty, Shreyasee; Cheung, Warren A.; Coffman, Keith A.; Cooper, Ashley M.; Cross, Laura A.; Curran, Tom; Dang, Thuy Tien T.; Elfrink, Mary M.; Engleman, Kendra L.; Fecske, Erin D.; Fieser, Cynthia; Fitzgerald, Keely; Fleming, Emily A.; Gadea, Randi N.; Gannon, Jennifer L.; Gelineau-Morel, Rose N.; Gibson, Margaret; Goldstein, Jeffrey; Grundberg, Elin; Halpin, Kelsee; Harvey, Brian S.; Heese, Bryce A.; Hein, Wendy; Herd, Suzanne M.; Hughes, Susan S.; Ilyas, Mohammed; Jacobson, Jill; Jenkins, Janda L.; Jiang, Shao; Johnston, Jeffrey J.; Keeler, Kathryn; Korlach, Jonas; Kussmann, Jennifer; Lambert, Christine; Lawson, Caitlin; Le Pichon, Jean-Baptiste; Leeder, James Steven; Little, Vicki C.; Louiselle, Daniel A.; Lypka, Michael; McDonald, Brittany D.; Miller, Neil; Modrcin, Ann; Nair, Annapoorna; Neal, Shelby H.; Oermann, Christopher M.; Pacicca, Donna M.; Pawar, Kailash; Posey, Nyshele L.; Price, Nigel; Puckett, Laura M. B.; Quezada, Julio F.; Raje, Nikita; Rowell, William J.; Rush, Eric; Sampath, Venkatesh; Saunders, Carol J.; Schwager, Caitlin; Schwend, Richard M.; Shaffer, Elizabeth; Smail, Craig; Soden, Sarah; Strenk, Meghan E.; Sullivan, Bonnie R.; Sweeney, Brooke R.; Tam-Williams, Jade B.; Walter, Adam M.; Welsh, Holly; Wenger, Aaron M.; Willig, Laurel K.; Yan, Yun; Younger, Scott T.; Zhou, Dihong; Zion, Tricia N.; Thiffault, Isabelle; Pastinen, Tomi Share Save
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine Faundes, Victor; Jennings, Martin D.; Crilly, Siobhan; Legraie, Sarah; Withers, Sarah E.; Cuvertino, Sara; Davies, Sally J.; Douglas, Andrew G. L.; Fry, Andrew E.; Harrison, Victoria; Amiel, Jeanne; Lehalle, Daphne; Newman, William G.; Newkirk, Patricia; Ranells, Judith; Splitt, Miranda; Cross, Laura A.; Saunders, Carol J.; Sullivan, Bonnie R.; Granadillo, Jorge L.; Gordon, Christopher T.; Kasher, Paul R.; Pavitt, Graham D.; Banka, Siddharth Share Save
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Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6. HttQ111/+ model of Huntington's disease (vol 7, 41570, 2017) Bragg, Robert M.; Coffey, Sydney R.; Weston, Rory M.; Ament, Seth A.; Cantle, Jeffrey P.; Minnig, Shawn; Funk, Cory C.; Shuttleworth, Dominic D.; Woods, Emily L.; Sullivan, Bonnie R.; Jones, Lindsey; Glickenhaus, Anne; Anderson, John S.; Anderson, Michael D.; Dunnett, Stephen B.; Wheeler, Vanessa C.; MacDonald, Marcy E.; Brooks, Simon P.; Price, Nathan D.; Carroll, Jeffrey B. Share Save
Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington's disease Bragg, Robert M.; Coffey, Sydney R.; Weston, Rory M.; Ament, Seth A.; Cantle, Jeffrey P.; Minnig, Shawn; Funk, Cory C.; Shuttleworth, Dominic D.; Woods, Emily L.; Sullivan, Bonnie R.; Jones, Lindsey; Glickenhaus, Anne; Anderson, John S.; Anderson, Michael D.; Dunnett, Stephen B.; Wheeler, Vanessa C.; MacDonald, Marcy E.; Brooks, Simon P.; Price, Nathan D.; Carroll, Jeffrey B. Share Save
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