MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Authors: Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, 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-José 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, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, Chen, Xiaoli

Source: In The American Journal of Human Genetics 7 November 2024 111(11):2392-2410

Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations

Authors: Maddirevula, Sateesh, Shagrani, Mohammad, Ji, Ae-Ri, Horne, Christopher R., Young, Samuel N., Mather, Lucy J., Alqahtani, Mashael, McKerlie, Colin, Wood, Geoffrey, Potter, Paul K., Abdulwahab, Firdous, AlSheddi, Tarfa, van der Woerd, Wendy L., van Gassen, Koen L.I., AlBogami, Dalal, Kumar, Kishwer, Muhammad Akhtar, Ali Syed, Binomar, Hiba, Almanea, Hadeel, Faqeih, Eissa, Fuchs, Sabine A., Scott, John W., Murphy, James M., Alkuraya, Fowzan S.

Source: In Genetics in Medicine November 2024 26(11)

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Authors: Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, Kleefstra, Tjitske

Source: In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Authors: Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan

Source: In The American Journal of Human Genetics 6 June 2024 111(6):1206-1221

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

Authors: Yang, Fang, Begemann, Anais, Reichhart, Nadine, Haeckel, Akvile, Steindl, Katharina, Schellenberger, Eyk, Sturm, Ronja Fini, Barth, Magalie, Bassani, Sissy, Boonsawat, Paranchai, Courtin, Thomas, Delobel, Bruno, Gunning, Boudewijn, Hardies, Katia, Jennesson, Mélanie, Legoff, Louis, Linnankivi, Tarja, Prouteau, Clément, Smal, Noor, Spodenkiewicz, Marta, Toelle, Sandra P., Van Gassen, Koen, Van Paesschen, Wim, Verbeek, Nienke, Ziegler, Alban, Zweier, Markus, Horn, Anselm H.C., Sticht, Heinrich, Lerche, Holger, Weckhuysen, Sarah, Strauß, Olaf, Rauch, Anita

Source: In The American Journal of Human Genetics 6 June 2024 111(6):1184-1205

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Authors: Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle

Source: In Genetics in Medicine May 2024 26(5)

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Authors: Morleo, Manuela, Venditti, Rossella, Theodorou, Evangelos, Briere, Lauren C., Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A., Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Torella, Annalaura, Walker, Melissa A., Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y., van Gassen, Koen L.I., Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Zollino, Marcella, Agrawal, Pankaj B., Del Bene, Filippo, Nigro, Vincenzo, Sweetser, David A., Franco, Brunella

Source: American journal of human genetics. 110(8):1377-1393

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194894580.0x000001&indx=1&recIds=ETOCvdc_100194894580.0x000001

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Authors: Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo

Source: American journal of human genetics. 110(8):1356-1376

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194894575.0x000001&indx=1&recIds=ETOCvdc_100194894575.0x000001

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Authors: Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo

Source: In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Authors: Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Nigro, Vincenzo, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Banfi, Sandro, Varavallo, Alessandra, Selicorni, Angelo, Mariani, Milena, Massimello, Marta, Daolio, Cecilia, Capra, Valeria, Accogli, Andrea, Scala, Marcello, Leuzzi, Vincenzo, Nardecchia, Francesca, Galosi, Serena, Mastrangelo, Mario, Milani, Donatella, Vitiello, Giuseppina, Piluso, Giulio, Romano, Corrado, Failla, Pinella, Greco, Donatella, Pantaleoni, Chiara, Ciaccio, Claudia, D’Arrigo, Stefano, Brunetti Pierri, Nicola, Parenti, Giancarlo, Coppola, Antonietta, Mattina, Teresa, Zollino, Marcella, Amenta, Simona, Tummolo, Albina, Santoro, Claudia, Grandone, Anna, De Brasi, Daniele, Varone, Antonio, Garavelli, Livia, Marini, Carla, Bigoni, Stefania, Piscopo, Carmelo, Trabacca, Antonio, De Rinaldis, Marta, Peron, Angela, Venditti, Rossella, Theodorou, Evangelos, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A., Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Walker, Melissa A., Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y., van Gassen, Koen L.I., Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Agrawal, Pankaj B., Del Bene, Filippo, Franco, Brunella

Source: In The American Journal of Human Genetics 3 August 2023 110(8):1377-1393

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Authors: O'Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L.J., MacInnes, Alyson W.

Source: Blood. 139(21):3111-3126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183252825.0x000001&indx=1&recIds=ETOCvdc_100183252825.0x000001

Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.

Authors: van Ommeren, Babeth¹, b.vanommeren@umcutrecht.nl, Hoekstra, Maud², van Gassen, Koen¹, van Jaarsveld, Richard¹, van Haaften, Gijs¹, Mathijssen, Irene³, Dammers, Ruben⁴, van Veelen, Marie‐Lise⁴, Baars, Rolanda⁵, Giltay, Jacques C.¹

Source: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-7, 7p

The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”

Authors: Vears, Danya F., Elferink, Martin, Kriek, Marjolein, Borry, Pascal, van Gassen, Koen L.

Source: In Genetics in Medicine June 2022 24(6):1306-1315

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Authors: Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

Source: In The American Journal of Human Genetics 3 June 2021 108(6):1053-1068

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Authors: Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., Platzer, Konrad

Source: In Genetics in Medicine April 2021 23(4):653-660

Analysis of laboratory reporting practices using a quality assessment of a virtual patient

Authors: Vears, Danya F. ^*, Elferink, Martin, Kriek, Marjolein, Borry, Pascal, van Gassen, Koen L.

Source: In Genetics in Medicine March 2021 23(3):562-570

The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy

Authors: Datta, Alexandre N., Bahi‐Buisson, Nadia, Bienvenu, Thierry, Buerki, Sarah E., Gardiner, Fiona, Cross, J. Helen, Heron, Bénédicte, Kaminska, Anna, Korff, Christian M., Lepine, Anne, Lesca, Gaetan, McTague, Amy, Mefford, Heather C., Mignot, Cyrill, Milh, Matthieu, Piton, Amélie, Pressler, Ronit M., Ruf, Susanne, Sadleir, Lynette G., Saint Martin, Anne, Van Gassen, Koen, Verbeek, Nienke E., Ville, Dorothée, Villeneuve, Nathalie, Zacher, Pia, Scheffer, Ingrid E., Lemke, Johannes R.

Source: Epilepsia. 62(2):325-334

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124901508.0x000001&indx=1&recIds=ETOCvdc_100124901508.0x000001

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Authors: Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

Source: In The American Journal of Human Genetics 3 September 2020 107(3):499-513

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Authors: 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.

Source: In Genetics in Medicine August 2020 22(8):1413-1417

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Authors: Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M.E. Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P., Skotko, Brian G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J. Louw, Van Gassen, Koen L., Koopmans, Marije, Bijlsma, Emilia K., Santen, Gijs W.E., Barge-Schaapveld, Daniela Q.C.M., Ruivenkamp, Claudia A.L., Hoffer, Mariette J.V., Lalani, Seema R., Streff, Haley, Craigen, William J., Graham, Brett H., van den Elzen, Annette P.M., Kamphuis, Daan J., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank, Tartaglia, Marco

Source: In The American Journal of Human Genetics 5 September 2019 105(3):493-508