Glutamine Sensitivity Analysis Identifies the xCT Antiporter as a Common Triple-Negative Breast Tumor Therapeutic Target von Timmerman, Luika A., Holton, Thomas, Yuneva, Mariia, Louie, Raymond J., Padró, Mercè, Daemen, Anneleen, Hu, Min, Chan, Denise A., Ethier, Stephen P., van ‘t Veer, Laura J., Polyak, Kornelia, McCormick, Frank, Gray, Joe W.

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Numerical chromosomal instability mediates susceptibility to radiation treatment von Bakhoum, Samuel F., Kabeche, Lilian, Wood, Matthew D., Laucius, Christopher D., Qu, Dian, Laughney, Ashley M., Reynolds, Gloria E., Louie, Raymond J., Phillips, Joanna, Chan, Denise A., Zaki, Bassem I., Murnane, John P., Petritsch, Claudia, Compton, Duane A.

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KDM5A mutations identified in autism spectrum disorder using forward genetics von 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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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder von Chettle, James, Louie, Raymond J., Larner, Olivia, Best, Robert, Chen, Kevin, Morris, Josephine, Dedeic, Zinaida, Childers, Anna, Rogers, R. Curtis, DuPont, Barbara R., Skinner, Cindy, Küry, Sébastien, Uguen, Kevin, Planes, Marc, Monteil, Danielle, Li, Megan, Eliyahu, Aviva, Greenbaum, Lior, Mor, Nofar, Besnard, Thomas, Isidor, Bertrand, Cogné, Benjamin, Blesson, Alyssa, Comi, Anne, Wentzensen, Ingrid M., Vuocolo, Blake, Lalani, Seema R., Sierra, Roberta, Berry, Lori, Carter, Kent, Sanders, Stephan J., Blagden, Sarah P.

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Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes? von Ortega, Veronica, Louie, Raymond J, Jones, Melanie A, Chaubey, Alka, DuPont, Barbara R, Britt, Allison, Ray, Joseph, McLean, Scott D, Littlejohn, Rebecca O, Velagaleti, Gopalrao

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RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A von Sohn, Young Bae, Rogers, Curtis, Stallworth, Jennifer, Cooley Coleman, Jessica A., Buch, Laura, Jozwiak, Erin, Johnson, Jo Ann, Wood, Tim, Harmatz, Paul, Pollard, Laura, Louie, Raymond J.

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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency von Beck, David B., Petracovici, Ana, He, Chongsheng, Moore, Hannah W., Louie, Raymond J., Ansar, Muhammad, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Santos-Cortez, Regie Lyn P., Prijoles, Eloise J., Bend, Renee, Keren, Boris, Mignot, Cyril, Nougues, Marie-Christine, Õunap, Katrin, Reimand, Tiia, Pajusalu, Sander, Zahid, Muhammad, Saqib, Muhammad Arif Nadeem, Buratti, Julien, Seaby, Eleanor G., McWalter, Kirsty, Telegrafi, Aida, Baldridge, Dustin, Shinawi, Marwan, Leal, Suzanne M., Schaefer, G. Bradley, Stevenson, Roger E., Banka, Siddharth, Bonasio, Roberto, Fahrner, Jill A.

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X‐Linked intellectual disability update 2022 von Schwartz, Charles E., Louie, Raymond J., Toutain, Annick, Skinner, Cindy, Friez, Michael J., Stevenson, Roger E.

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Cohesin complex-associated holoprosencephaly von Kruszka, Paul, Berger, Seth I, Casa, Valentina, Dekker, Mike R, Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F, Murdock, David R, Louie, Raymond J, Prijoles, Eloise J, Lichty, Angie W, Brouwer, Oebele F, Zonneveld-Huijssoon, Evelien, Stephan, Mark J, Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L, Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J, Delgado, Mauricio R, Hajirnis, Omkar, Balasubramanian, Meena, Kayserili, Hülya, Deardorff, Matthew, Poot, Raymond A, Wendt, Kerstin S, Lipinski, Robert J, Muenke, Maximilian

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Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency von Yu, Seok-Ho, Wang, Tong, Wiggins, Kali, Louie, Raymond J., Merino, Emilio F., Skinner, Cindy, Cassera, Maria B., Meagher, Kirsten, Goldberg, Paul, Rismanchi, Neggy, Chen, Dillon, Lyons, Michael J., Flanagan-Steet, Heather, Steet, Richard

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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome von Werren, Elizabeth A., LaForce, Geneva R., Srivastava, Anshika, Perillo, Delia R., Li, Shaokun, Johnson, Katherine, Baris, Safa, Berger, Brandon, Regan, Samantha L., Pfennig, Christian D., de Munnik, Sonja, Pfundt, Rolph, Hebbar, Malavika, Jimenez-Heredia, Raúl, Karakoc-Aydiner, Elif, Ozen, Ahmet, Dmytrus, Jasmin, Krolo, Ana, Corning, Ken, Prijoles, E. J., Louie, Raymond J., Lebel, Robert Roger, Le, Thuy-Linh, Amiel, Jeanne, Gordon, Christopher T., Boztug, Kaan, Girisha, Katta M., Shukla, Anju, Bielas, Stephanie L., Schaffer, Ashleigh E.

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders von Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases von Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim

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Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders von Cooley Coleman, Jessica A, Gass, Jennifer M, Srikanth, Sujata, Pauly, Rini, Ziats, Catherine A, Everman, David B, Skinner, Steven A, Bell, Shannon, Louie, Raymond J, Cascio, Lauren, Patterson, Wesley G, Jones, Julie R, Di Donato, Nataliya, Stevenson, Roger E, Boccuto, Luigi

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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders von Mochel, Fanny, Rastetter, Agnès, Ceulemans, Berten, Platzer, Konrad, Yang, Sandra, Shinde, Deepali N, Helbig, Katherine L, Lopergolo, Diego, Mari, Francesca, Renieri, Alessandra, Benetti, Elisa, Canitano, Roberto, Waisfisz, Quinten, Plomp, Astrid S, Huisman, Sylvia A, Wilson, Golder N, Cathey, Sara S, Louie, Raymond J, Gaudio, Daniela Del, Waggoner, Darrel, Kacker, Shawn, Nugent, Kimberly M, Roeder, Elizabeth R, Bruel, Ange-Line, Thevenon, Julien, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Kaiser, Frank J, Kamphausen, Susanne B, Abou Jamra, Rami, Weckhuysen, Sarah, Dalle, Carine, Depienne, Christel

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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome von Karimi, Karim, Lichtenstein, Yael, Reilly, Jack, McConkey, Haley, Relator, Raissa, Levy, Michael A., Kerkhof, Jennifer, Bouman, Arjan, Symonds, Joseph D., Ghoumid, Jamal, Smol, Thomas, Clarkson, Katie, Drazba, Katy, Louie, Raymond J., Miranda, Valancy, McCann, Cathleen, Motta, Jamie, Lancaster, Emily, Sallevelt, Suzanne, Sidlow, Richard, Morrison, Jennifer, Hannibal, Mark, O'Shea, Jessica, Marin, Victor, Prasad, Chitra, Patel, Chirag, Raskin, Salmo, Maria-Noelia, Seco Moro, Diaz de Bustamante, Aranzazú, Marom, Daphna, Barkan, Tali, Keren, Boris, Poirsier, Celine, Cohen, Lior, Colin, Estelle, Gorman, Kathleen, Gallant, Emily, Menke, Leonie A., Valenzuela Palafoll, Irene, Hauser, Natalie, Wentzensen, Ingrid M., Rankin, Julia, Turnpenny, Peter D., Campeau, Philippe M., Balci, Tugce B., Tedder, Matthew L., Sadikovic, Bekim, Weiss, Karin

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Near complete deletion of KMT2D in a college student von Gooch, Catherine, Souder, Jaclyn Paige, Tedder, Matthew L., Kerkhof, Jennifer, Lee, Jennifer A., Louie, Raymond J., Sadikovic, Bekim, Fletcher, Robin S., Robin, Nathaniel H.

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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation von Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M.

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability von 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

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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder von Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

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