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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

by Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan
Published in Genetics in medicine (01.11.2021)

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

by Mirzaa, Ghayda M., Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M., Dries, Annika M., Rowe, Leah J., Tsai, Anne C.H., Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.
Published in Genetics in medicine (01.03.2020)

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

by Shankar, Suma P., Grimsrud, Kristin, Stoler, Joan, Brinkmann, Ulrich, Adam, Margaret, Amendola, Laura, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Berg-Rood, Beverly, Berry, Gerard T., Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chao, Hsiao-Tuan, Colley, Heather A., Cooper, Cynthia M., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorrani, Naghmeh, Eckstein, David J., Fernandez, Liliana, Forghani, Irman, Golden-Grant, Katie, Goldrich, Madison P., Hamid, Rizwan, Hassey, Kelly, Introne, Wendy, Isasi, Rosario, Jamal, Fariha, Jayadev, Suman, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Krasnewich, Donna M., Lanpher, Brendan C., LeBlanc, Kimberly, Levitt, Roy, Longo, Nicola, Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Martin, Martin G., McGee, Elisabeth, Might, Matthew, Moretti, Paolo M., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Saporta, Mario, Scott, Daryl A., Silverman, Edwin K., Smith, Edward C., Smith, Kevin S., Stoler, Joan M., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Tabor, Holly K., Tan, Amelia L.M., Queenie, K.-G., Telischi, Fred, Tifft, Cynthia J., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Wang, Lee-kai, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Zastrow, Diane B., Zuchner, Stephan
Published in Genetics in medicine (01.07.2022)

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability

by Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T, Isidor, Bertrand
Published in Genetics in medicine (01.09.2022)

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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

by Bryant, Laura, Li, Dong, Cox, Samuel G, Marchione, Dylan, Joiner, Evan F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J, Wadley, Alexandrea, Mancini, Grazia M S, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P, Powis, Zoe, Cho, Megan T, Willing, Marcia C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B, Retterer, Kyle, Schuette, Jane L, Innis, Jeffrey W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M, Monaghan, Kristin G, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A, Lyons, Michael J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H, Õunap, Katrin, Ilves, Pilvi, Innes, A Micheil, Kernohan, Kristin D, Costain, Gregory, Meyn, M Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G, Martinez-Agosto, Julian A, Nelson, Stan F, Palmer, Christina G S, Papp, Jeanette C, Parker, Neil H, Sinsheimer, Janet S, Vilain, Eric, Wan, Jijun, Yoon, Amanda J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M, Gotway, Garrett, Stuurman, K E, Thompson, Michelle L, McWalter, Kirsty, Stumpel, Constance T R M, Stevens, Servi J C
Published in Science advances (01.12.2020)

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