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Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases Orellana, Carmen; Rosello, Monica; Sanchis, Amparo; Pedrola, Laia; Martin-Grau, Carla; Gabaldon-Albero, Alba; Senent, Maria Leonor; Such, Esperanza; Garcia-Ruiz, Cristian; Avetisyan, Gayane; Martinez, Francisco Share Save
Developing a community-led rare disease ELSI research agenda Berrios, Courtney; McBeth, Macy; Bradley-Ewing, Andrea; Schuetz, Nikolaus; Campbell, Annette; Talebizadeh, Zohreh; Garrett, Jeremy R.; Falicov, Tamara; Martinez, Francisco; Hurley, Emily A. Share Save
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome Lyon, Gholson J.; Vedaie, Marall; Beisheim, Travis; Park, Agnes; Marchi, Elaine; Gottlieb, Leah; Hsieh, Tzung-Chien; Klinkhammer, Hannah; Sandomirsky, Katherine; Cheng, Hanyin; Starr, Lois J.; Preddy, Isabelle; Tseng, Marcellus; Li, Quan; Hu, Yu; Wang, Kai; Carvalho, Ana; Martinez, Francisco; Caro-Llopis, Alfonso; Gavin, Maureen; Amble, Karen; Krawitz, Peter; Marmorstein, Ronen; Herr-Israel, Ellen Share Save
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha Share Save
OFF-THE-SHELF IPSC-DERIVED CAR-T CELLS CONTAINING SEVEN FUNCTIONAL EDITS OVERCOME ANTIGEN HETEROGENEITY, IMPROVE TRAFFICKING, AND WITHSTAND IMMUNOSUPPRESSION ASSOCIATED WITH FAILED TUMOR TREATMENT Hosking, Martin; Shirinbak, Soheila; Shrestha, Bishwas; Grant, Joy; Omilusik, Kyla; Keegan, Hannah; Cardenas, Demetrio; Gentile, Angela; Chandra, Shilpi; Loter, Lorraine; Linderhof, Lexe; Brookhouser, Nicholas; Kennedy, Stephanie; Martinez, Francisco; Campanati, Loraine; Ecker, Chris; Yuan, Xu; Palomares, Karina; Lai, Yi-Shin; Fong, Lauren; Pan, Yijia; Sikaroodi, Shohreh; Jelcic, Mark; Chu, Philip; Mehta, Amit; Smith, Layton; Peralta, Eigen; Lee, Tom; Abujarour, Ramzey; Clarke, Raedun; Valamehr, Bob Share Save
Rare pathogenic variants in WNK3 cause X-linked intellectual disability Kury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, 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; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, 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, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand Share Save
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition Gargallo, Pablo; Oltra, Silvestre; Tasso, Maria; Balaguer, Julia; Yanez, Yania; Dolz, Sandra; Calabria, Ines; Martinez, Francisco; Segura, Vanessa; Juan-Ribelles, Antonio; Llavador, Margarita; Castel, Victoria; Canete, Adela; Font de Mora, Jaime Share Save
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection Santamaria, Ramon; Ballester, Maria; Garcia-Llorens, Guillem; Martinez, Francisco; Blazquez, Marina; Ribes-Koninckx, Carmen; Castell, Jose, V; Wuestefeld, Torsten; Bort, Roque Share Save
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder Latypova, Xenia; Vincent, Marie; Molle, 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, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand Share Save
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Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing Rosello, Monica; Caro-Llopis, Alfonso; Orellana, Carmen; Oltra, Silvestre; Alemany-Albert, Marta; Marco-Hernandez, Ana V.; Monfort, Sandra; Pedrola, Laia; Martinez, Francisco; Tomas, Miguel Share Save
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Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome Isabel Alvarez-Mora, Maria; Santos, Cristina; Carreno-Gago, Lidia; Madrigal, Irene; Tejada, Maria Isabel; Martinez, Francisco; Izquierdo-Alvarez, Silvia; Garcia-Arumi, Elena; Mila, Montserrat; Rodriguez-Revenga, Laia Share Save
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 Krab, Lianne C.; Marcos-Alcalde, Inigo; Assaf, Melissa; Balasubramanian, Meena; Andersen, Janne Bayer; Bisgaard, Anne-Marie; Fitzpatrick, David R.; Gudmundsson, Sanna; Huisman, Sylvia A.; Kalayci, Tugba; Maas, Saskia M.; Martinez, Francisco; McKee, Shane; Menke, Leonie A.; Mulder, Paul A.; Murch, Oliver D.; Parker, Michael; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Mokry, Jill A. Rosenfeld; Scarano, Emanuela; Shinawi, Marwan; Gomez-Puertas, Paulino; Tumer, Zeynep; Hennekam, Raoul C. Share Save
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