Role of CAMK2D in neurodevelopment and associated conditions
Rigter, Pomme M.F., de Konink, Charlotte, Dunn, Matthew J., Proietti Onori, Martina, Humberson, Jennifer B., Thomas, Matthew, Barnes, Caitlin, Prada, Carlos E., Weaver, K. Nicole, Ryan, Thomas D., Caluseriu, Oana, Conway, Jennifer, Calamaro, Emily, Fong, Chin-To, Wuyts, Wim, Meuwissen, Marije, Hordijk, Eva, Jonkers, Carsten N., Anderson, Lucas, Yuseinova, Berfin, Polonia, Sarah, Beysen, Diane, Stark, Zornitza, Savva, Elena, Poulton, Cathryn, McKenzie, Fiona, Bhoj, Elizabeth, Bupp, Caleb P., Bézieau, Stéphane, Mercier, Sandra, Blevins, Amy, Wentzensen, Ingrid M., Xia, Fan, Rosenfeld, Jill A., Hsieh, Tzung-Chien, Krawitz, Peter M., Elbracht, Miriam, Veenma, Danielle C.M., Schulman, Howard, Stratton, Margaret M., Küry, Sébastien, van Woerden, Geeske M.
Published in American journal of human genetics (01.02.2024)
Published in American journal of human genetics (01.02.2024)
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Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome
Lin, Angela E., Michot, Caroline, Cormier-Daire, Valerie, L'Ecuyer, Thomas J., Matherne, G. Paul, Barnes, Barrett H., Humberson, Jennifer B., Edmondson, Andrew C., Zackai, Elaine, O'Connor, Matthew J., Kaplan, Julie D., Ebeid, Makram R., Krier, Joel, Krieg, Elizabeth, Ghoshhajra, Brian, Lindsay, Mark E.
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
Jacobs, Eva Z., Brown, Kathleen, Byler, Melissa C., D'haenens, Erika, Dheedene, Annelies, Henderson, Lindsay B., Humberson, Jennifer B., Jaarsveld, Richard H., Kanani, Farah, Lebel, Robert Roger, Millan, Francisca, Oegema, Renske, Oostra, Ann, Parker, Michael J., Rhodes, Lindsay, Saenz, Margarita, Seaver, Laurie H., Si, Yue, Vanlander, Arnaud, Vergult, Sarah, Callewaert, Bert
Published in Clinical genetics (01.02.2021)
Published in Clinical genetics (01.02.2021)
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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N, Clark, Karl J, Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B, Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E, Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H, Klee, Eric W, Engleman, Kendra, Safina, Nicole P, Slaugh, Rachel, Bryant, Emily M, Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N, Schaefer, G Bradley, Towner, Shelley, Brilstra, Eva H, Koeleman, Bobby P C
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report
O'Keefe, Siobhán, Wefuan, Dieter T, Humberson, Jennifer B, Schmidt, Karen, Wiley, John
Published in Journal of medical case reports (12.08.2016)
Published in Journal of medical case reports (12.08.2016)
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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E, Bonkowsky, Joshua L, Perry, Michael Scott, Borlot, Felippe, Moretz, Chad, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Parachuri, Venu G, Lay-Son, Guillermo, de Montellano, David J Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O, Ziobro, Julie, Chirita-Emandi, Adela, Kulasa-Luke, Dianne, Megarbane, Andre, Chagnon, Sarah L, Humberson, Jennifer B, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Hwang, Sean T, Boutlier, Susan B, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Wheless, James W, Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L, Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Machie, Michelle, Guerra, Patricio, Candee, Meghan S, Bupp, Caleb P, Muller, 2nd, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M, Plaza, Lautaro, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Hurst, Anna C E, Smith, Douglas M, Massingham, Lauren J, Pisani, Laura, Costin, Carrie E, Filloux, Francis M, Ananth, Amitha L, Mohamed, Ismail S, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Jacobson, Mona, Chernuha, Veronika, Sweney, Matthew T, Espinoza, A Chris, Van Orman, Colin B, Weinstock, Arie, Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D, Shiloh-Malawsky, Yael, Parikh, Sumit, Fulton, Stephen, Sogawa, Yoshimi, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W, Wilson, Carey A, Guzmán, Guillermo G, Pavliuk, Mariia
Published in Archives of neurology (Chicago) (01.12.2022)
Published in Archives of neurology (Chicago) (01.12.2022)
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Sutton, Vernon R., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, Retterer, Kyle, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Pichurin, Pavel N., Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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