Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review by Hanly, Ciara, Shah, Harshil, Au, Ping Yee Billie, Murias, Kara

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Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis by Au, Ping-Yee Billie, Chernos, Judy E., Thomas, Mary Ann

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Hereditary spastic paraplegia initially diagnosed as cerebral palsy by Suchowersky, Oksana, Ashtiani, Setareh, Au, Ping-Yee Billie, McLeod, Scott, Estiar, Mehrdad A., Gan-Or, Ziv, Rouleau, Guy A.

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Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature by Smith, Christopher S., Riddell, Madison, Badalato, Lauren, Au, Ping Yee Billie

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SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology by Vanden Broek, Kara, Ryu, Jae‐Ryeon, Perrier, Renee, Tyndall, Amanda V., Childs, Sarah J., Au, Ping Yee Billie

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The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy by Cherian, Christina, Appendino, Juan P., Ashtiani, Setareh, Federico, Paolo, Molnar, Christine P., Kerr, Marina, Khan, Aneal, Au, Ping Yee Billie, Klein, Karl Martin

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De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy by Plumereau, Quentin, Ebdalla, Aya, Poulin, Hugo, Appendino, Juan Pablo, Scantlebury, Morris H, Au, Ping Yee Billie, Chahine, Mohamed

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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects by AlAbdi, Lama, Desbois, Muriel, Rusnac, Domniţa-Valeria, Sulaiman, Raashda A, Rosenfeld, Jill A, Lalani, Seema, Murdock, David R, Burrage, Lindsay C, Billie Au, Ping Yee, Towner, Shelley, Wilson, William G, Wong, Lawrence, Brunet, Theresa, Strobl-Wildemann, Gertrud, Burton, Jennifer E, Hoganson, George, McWalter, Kirsty, Begtrup, Amber, Zarate, Yuri A, Christensen, Elyse L, Opperman, Karla J, Giles, Andrew C, Helaby, Rana, Kania, Artur, Zheng, Ning, Grill, Brock, Alkuraya, Fowzan S

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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision by Chrystal, Paul W, Lambacher, Nils J, Doucette, Lance P, Bellingham, James, Schiff, Elena R, Noel, Nicole C L, Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A, Zhai, Yi, Nadolski, Nathan J, Majumder, Mohammed H, Tagoe, Julia, D'Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Mahroo, Omar A, Hocking, Jennifer C, Cheetham, Michael E, Webster, Andrew R, Jansen, Gert, Blacque, Oliver E, Allison, W Ted, Au, Ping Yee Billie, MacDonald, Ian M, Arno, Gavin, Leroux, Michel R

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants by Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariëtte J. V., Van der Ven, Amelie, Thiele, Holger, Altmüller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K., Lessel, Davor

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Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Tela... by Maroilley, Tatiana, Wright, Nicola A M, Diao, Catherine, MacLaren, Linda, Pfeffer, Gerald, Sarna, Justyna R, Billie Au, Ping Yee, Tarailo-Graovac, Maja

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The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing by Brauchitsch, Sophie, Haslinger, Denise, Lindlar, Silvia, Thiele, Holger, Bernsen, Natalie, Zahnert, Felix, Reif, Philipp S., Balcik, Yunus, Au, Ping Yee Billie, Josephson, Colin B., Altmüller, Janine, Strzelczyk, Adam, Knake, Susanne, Rosenow, Felix, Chiocchetti, Andreas, Klein, Karl Martin

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O20: The natural history of Angelman syndrome: Sixteen years and 450 individuals later by Tan, Wen-Hann, Anderson, Katherine, Sadhwani, Anjali, Billie Au, Ping Yee, Bacino, Carlos, Berry-Kravis, Elizabeth, Boelman, Cyrus, Carson, Robert, DeRamus, Margaret, Duis, Jessica, Murias, Kara, Ochoa-Lubinoff, Cesar, Peters, Sarika, Sell, Erick, Skinner, Steven, Talboy, Amy, Wheeler, Anne, Wink, Logan, Gwaltney, Angela, Bird, Lynne

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Biophysical characterization of SCN1A and SCN2A variants related to epilepsy by Yang, Xiao-Ru, Poulin, Hugo, Pouliot, Valérie, Plumereau, Quentin, Pablo Appendino, Juan, Billie Au, Ping Yee, Chahine, Mohamed

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SCN2A -related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects by Yang, Xiao-Ru, Ginjupalli, Vamsi Krishna Murthy, Theriault, Olivier, Poulin, Hugo, Appendino, Juan Pablo, Au, Ping Yee Billie, Chahine, Mohamed

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Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy by Colijn, Mark Ainsley, Vrijsen, Stephanie, Au, Ping Yee Billie, Abou El Asrar, Rania, Houdou, Marine, Van den Haute, Chris, Sarna, Justyna, Montgomery, Greg, Vangheluwe, Peter

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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD by Pavinato, Lisa, Delle Vedove, Andrea, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Di Gregorio, Eleonora, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, Mazel, Benoit, Safraou, Hana, Denommé-Pichon, Anne-Sophie, van Slegtenhorst, Marjon A, Giesbertz, Noor, van Jaarsveld, Richard H, Childers, Anna, Rogers, R Curtis, Novelli, Antonio, De Rubeis, Silvia, Buxbaum, Joseph D, Scherer, Stephen W, Ferrero, Giovanni Battista, Wirth, Brunhilde, Brusco, Alfredo

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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome by Alharatani, Reham, Ververi, Athina, Beleza-Meireles, Ana, Ji, Weizhen, Mis, Emily, Patterson, Quinten T, Griffin, John N, Bhujel, Nabina, Chang, Caitlin A, Dixit, Abhijit, Konstantino, Monica, Healy, Christopher, Hannan, Sumayyah, Neo, Natsuko, Cash, Alex, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine H, Cleaver, Ruth, Baralle, Diana, McEntagart, Meriel, Newbury-Ecob, Ruth, Scott, Richard, Hurst, Jane A, Au, Ping Yee Billie, Hosey, Marie Therese, Khokha, Mustafa, Marciano, Denise K, Lakhani, Saquib A, Liu, Karen J

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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes by Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda G, Sun, Jia-Hui, Ge, Yu-Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura H, Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe M, Pedersen, Miriam G, Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa T, Sully, Krystal, Murali, Chaya N, Burrage, Lindsay C, Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, McNiven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Ben-Zeev, Bruria, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke S, Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes R, Shi, Yun Stone, Kristensen, Anders S

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy by Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril

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