The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia by Elliott, Alison M., Souich, Christèle, Adam, Shelin, Dragojlovic, Nick, Karnebeek, Clara, Nelson, Tanya N., Lehman, Anna, Lynd, Larry D., Friedman, Jan M.

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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders by Duncan, Anna R., Polovitskaya, Maya M., Gaitán-Peñas, Héctor, Bertelli, Sara, VanNoy, Grace E., Grant, Patricia E., O’Donnell-Luria, Anne, Valivullah, Zaheer, Lovgren, Alysia Kern, England, Elaina M., Agolini, Emanuele, Madden, Jill A., Schmitz-Abe, Klaus, Kritzer, Amy, Hawley, Pamela, Novelli, Antonio, Alfieri, Paolo, Colafati, Giovanna Stefania, Wieczorek, Dagmar, Platzer, Konrad, Luppe, Johannes, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Neira-Fresneda, Juanita, Lehman, Anna, Boerkoel, Cornelius F., Seath, Kimberly, Clarke, Lorne, van Ierland, Yvette, Argilli, Emanuela, Sherr, Elliott H., Maiorana, Andrea, Diel, Thilo, Hempel, Maja, Bierhals, Tatjana, Estévez, Raúl, Jentsch, Thomas J., Pusch, Michael, Agrawal, Pankaj B.

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NBEA: Developmental disease gene with early generalized epilepsy phenotypes by Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez‐Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders Blok, Lot, Veenstra‐Knol, Hermine E., Baugh, Evan H., Brilstra, Eva H., Volker‐Touw, Catharina M. L., van Binsbergen, Ellen, Revah‐Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.

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Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy by Sharma, Mehul, Fu, Maggie P., Lu, Henry Y., Sharma, Ashish A., Modi, Bhavi P., Michalski, Christina, Lin, Susan, Dalmann, Joshua, Salman, Areesha, Del Bel, Kate L., Waqas, Meriam, Terry, Jefferson, Setiadi, Audi, Lavoie, Pascal M., Wasserman, Wyeth W., Mwenifumbo, Jill, Kobor, Michael S., Lee, Anna F., Kuchenbauer, Florian, Lehman, Anna, Cheng, Sylvia, Cooper, Anthony, Patel, Millan S., Turvey, Stuart E.

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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation by Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.

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KDM5A mutations identified in autism spectrum disorder using forward genetics by El Hayek, Lauretta, Tuncay, Islam Oguz, Nijem, Nadine, Russell, Jamie, Ludwig, Sara, Kaur, Kiran, Li, Xiaohong, Anderton, Priscilla, Tang, Miao, Gerard, Amanda, Heinze, Anja, Zacher, Pia, Alsaif, Hessa S, Rad, Aboulfazl, Hassanpour, Kazem, Abbaszadegan, Mohammad Reza, Washington, Camerun, DuPont, Barbara R, Louie, Raymond J, Couse, Madeline, Faden, Maha, Rogers, R Curtis, Abou Jamra, Rami, Elias, Ellen R, Maroofian, Reza, Houlden, Henry, Lehman, Anna, Beutler, Bruce, Chahrour, Maria H

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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature by Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot A, Kruisselbrink, Teresa M, Lanpher, Brendan C, Klee, Eric W, Fiala, Elise, Grange, Dorothy K, Meschino, Wendy S, Hiatt, Susan M, Cooper, Gregory M, Olivié, Hilde, Smith, Wendy E, Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan S, Miramar, Dolores, Van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna C, Pajusalu, Sander, Õunap, Katrin, Filiano, James J, Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William B, Hevner, Robert, Thauvin-Robinet, Christel

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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy by Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Adam, Shelin, du Souich, Christèle, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Boelman, Cyrus, Bolbocean, Corneliu, Buerki, Sarah E., Candido, Tara, Eydoux, Patrice, Evans, Daniel M., Gibson, William, Horvath, Gabriella, Huh, Linda, Sinclair, Graham, Tarling, Tamsin, Toyota, Eric B., Townsend, Katelin N., Van Allen, Margot I., Vercauteren, Suzanne, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas

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Targeted treatment of immune thrombocytopenia in CTLA‐4 insufficiency: a case report by Lai, Chieh Min Benjamin, Setiadi, Audi, Barlas, Angeliki, Kanani, Amin, Pourshahnazari, Persia, Leitch, Heather A., Metzger, Daniel L., Merkeley, Hayley, Biggs, Catherine M.

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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation by Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao

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NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy by McTiernan, Nina, Gill, Harinder, Prada, Carlos E, Pachajoa, Harry, Lores, Juliana, Arnesen, Thomas

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A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation by Lu, Henry Y, Sertori, Robert, Contreras, Alejandra V, Hamer, Mark, Messing, Melina, Del Bel, Kate L, Lopez-Rangel, Elena, Chan, Edmond S, Rehmus, Wingfield, Milner, Joshua D, McNagny, Kelly M, Lehman, Anna, Wiest, David L, Turvey, Stuart E

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders by Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert B A, Vissers, Lisenka E L M, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E H, van Gassen, Koen L I, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

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Shortened consent forms for genome‐wide sequencing: Parent and provider perspectives by Hitchcock, Emma C., Study, CAUSES, Elliott, Alison M.

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Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions by Rajan-Babu, Indhu-Shree, Peng, Junran J, Chiu, Readman, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A, Birol, Inanc, Friedman, Jan M

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New developmental syndromes: Understanding the family experience by Inglese, Cara N., Elliott, Alison M., Lehman, Anna, Adam, Shelin, Christèle du Souich, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M.

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FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? by Myers, Angela, du Souich, Christèle, Yang, Connie L., Borovik, Lior, Mwenifumbo, Jill, Rupps, Rosemarie, Study, CAUSES, Lehman, Anna, Boerkoel, Cornelius F.

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Rare SUZ12 variants commonly cause an overgrowth phenotype by Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.

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Renpenning syndrome in a female by Cho, Raymond Y., Peñaherrera, Maria S., Du Souich, Christele, Huang, Lijia, Mwenifumbo, Jill, Nelson, Tanya N., Elliott, Alison M., Adam, Shelin, Eydoux, Patrice, Yang, Gui X., Chijiwa, Chieko, Van Allen, Margot I., Friedman, Jan M., Robinson, Wendy P., Lehman, Anna

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Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype? by Ye, Xin (Cynthia), van der Lee, Robin, Wasserman, Wyeth W., CAUSES Study, Friedman, Jan M., Lehman, Anna

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