Glutamine Sensitivity Analysis Identifies the xCT Antiporter as a Common Triple-Negative Breast Tumor Therapeutic Target
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.
Published in Cancer cell (14.10.2013)
Published in Cancer cell (14.10.2013)
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Numerical chromosomal instability mediates susceptibility to radiation treatment
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.
Published in Nature communications (21.01.2015)
Published in Nature communications (21.01.2015)
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KDM5A mutations identified in autism spectrum disorder using forward genetics
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
Published in eLife (22.12.2020)
Published in eLife (22.12.2020)
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Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?
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
Published in Molecular cytogenetics (14.07.2021)
Published in Molecular cytogenetics (14.07.2021)
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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
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.
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A
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.
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
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X‐Linked intellectual disability update 2022
Schwartz, Charles E., Louie, Raymond J., Toutain, Annick, Skinner, Cindy, Friez, Michael J., Stevenson, Roger E.
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
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.
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
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Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency
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
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Dohrn, Maike F, Beijer, Danique, Lone, Museer A, Bayraktar, Elif, Oflazer, Piraye, Orbach, Rotem, Donkervoort, Sandra, Foley, A Reghan, Rose, Aubrey, Lyons, Michael, Louie, Raymond J, Gable, Kenneth, Dunn, Teresa, Chen, Sitong, Danzi, Matt C, Synofzik, Matthis, Bönnemann, Carsten G, Nazlı Başak, A, Hornemann, Thorsten, Zuchner, Stephan
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2024)
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2024)
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Cohesin complex-associated holoprosencephaly
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
Published in Brain (London, England : 1878) (01.09.2019)
Published in Brain (London, England : 1878) (01.09.2019)
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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
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
Published in HGG advances (13.01.2022)
Published in HGG advances (13.01.2022)
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Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders
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
Published in Human molecular genetics (20.04.2023)
Published in Human molecular genetics (20.04.2023)
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Near complete deletion of KMT2D in a college student
Gooch, Catherine, Souder, Jaclyn Paige, Tedder, Matthew L., Kerkhof, Jennifer, Lee, Jennifer A., Louie, Raymond J., Sadikovic, Bekim, Fletcher, Robin S., Robin, Nathaniel H.
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
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
Published in Brain (London, England : 1878) (01.12.2020)
Published in Brain (London, England : 1878) (01.12.2020)
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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
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.
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
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
Published in Genetics in medicine (01.05.2024)
Published in Genetics in medicine (01.05.2024)
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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
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
Published in American journal of human genetics (06.05.2021)
Published in American journal of human genetics (06.05.2021)
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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
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.
Published in Nature communications (22.02.2024)
Published in Nature communications (22.02.2024)
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Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
Louie, Raymond J., Friez, Michael J., Skinner, Cindy, Baraitser, Michael, Clark, Robin D., Schwartz, Charles E., Stevenson, Roger E.
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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