Publicacions
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Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Nº de cites: 1
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Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F.
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
CLINICAL GENETICS . 105(3): 340-342.
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Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.
Heterozygous AP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
HUMAN GENETICS . 143(3): 279-291.
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Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
Journal of neuromuscular diseases . 11(3): 647-653.
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Repossi R, Martín-Ramírez R, Gómez-Bernal F, Medina L, Fariña-Jerónimo H, González-Fernández R, Martín-Vasallo P and Plata-Bello J.
Evaluation of Zonulin Expression and Its Potential Clinical Significance in Glioblastoma
Cancers . 16(2): . Nº de cites: 1
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Kim, Jonggeol Jeffrey, Vitale, Dan, Otani, Diego Veliz, Lian, Michelle Mulan, Heilbron, Karl, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cannon, Paul, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Eriksson, Nicholas, Filshtein, Teresa, Fitch, Alison, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Granka, Julie M., Hernandez, Alejandro, Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Kukar, Katelyn, Kwong, Alan, Lin, Keng-Han, Llamas, Bianca A., Lowe, Maya, McCreight, Jey C., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Nandakumar, Priyanka, Nguyen, Dominique T., Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Reynoso, Alexandra, Schloetter, Madeleine, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Su, Qiaojuan Jane, Tat, Susana A., Tchakoute, Christophe Toukam, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Wong, Corinna D., Iwaki, Hirotaka, Lake, Julie, Solsberg, Caroline Warly, Leonard, Hampton, Makarious, Mary B., Tan, Eng-King, Singleton, Andrew B., Bandres-Ciga, Sara, Noyce, Alastair J., Gatto, Emilia M., Kauffman, Marcelo, Khachatryan, Samson, Tavadyan, Zaruhi, Shepherd, Claire E., Hunter, Julie, Kumar, Kishore, Ellis, Melina, Renteria, Miguel E., Koks, Sulev, Zimprich, Alexander, Schumacher-Schuh, Artur F., Rieder, Carlos, Awad, Paula Saffie, Tumas, Vitor, Camargos, Sarah, Fon, Edward A., Monchi, Oury, Fon, Ted, Galleguillos, Benjamin Pizarro, Miranda, Marcelo, Bustamante, Maria Leonor, Olguin, Patricio, Chana, Pedro, Tang, Beisha, Shang, Huifang, Guo, Jifeng, Chan, Piu, Luo, Wei, Arboleda, Gonzalo, Orozc, Jorge, del Rio, Marlene Jimenez, Hernandez, Alvaro, Salama, Mohamed, Kamel, Walaa A., Zewde, Yared Z., Brice, Alexis, Corvol, Jean-Christophe, Westenberger, Ana, Illarionova, Anastasia, Mollenhauer, Brit, Klein, Christine, Vollstedt, Eva-Juliane, Hopfner, Franziska, Hoglinger, Gunter, Madoev, Harutyun, Trinh, Joanne, Junker, Johanna, Lohmann, Katja, Lange, Lara M., Sharma, Manu, Groppa, Sergiu, Gasser, Thomas, Fang, Zih-Hua, Akpalu, Albert, Xiromerisiou, Georgia, Hadjigorgiou, Georgios, Dagklis, Ioannis, Tarnanas, Ioannis, Stefanis, Leonidas, Stamelou, Maria, Dadiotis, Efthymios, Medina, Alex, Chan, Germaine Hiu-Fai, Ip, Nancy, Cheung, Nelson Yuk-Fai, Chan, Phillip, Zhou, Xiaopu, Kishore, Asha, Divya, K. P., Pal, Pramod, Kukkle, Prashanth Lingappa, Rajan, Roopa, Borgohain, Rupam, Salari, Mehri, Quattrone, Andrea, Valente, Enza Maria, Parnetti, Lucilla, Avenali, Micol, Schirinzi, Tommaso, Funayama, Manabu, Hattori, Nobutaka, Shiraishi, Tomotaka, Karimova, Altynay, Kaishibayeva, Gulnaz, Shambetova, Cholpon, Krueger, Rejko, Tan, Ai Huey, Ahmad-Annuar, Azlina, Norlinah, Mohamed Ibrahim, Murad, Nor Azian Abdul, Azmin, Shahrul, Lim, Shen-Yang, Mohamed, Wael, Tay, Yi Wen, Martinez-Ramirez, Daniel, Rodriguez-Violante, Mayela, Reyes-Perez, Paula, Tserensodnom, Bayasgalan, Ojha, Rajeev, Anderson, Tim J., Pitcher, Toni L., Sanyaolu, Arinola, Okubadejo, Njideka, Ojo, Oluwadamilola, Aasly, Jan O., Pihlstrom, Lasse, Tan, Manuela, Ur-Rehman, Shoaib, Veliz-Otani, Diego, Cornejo-Olivas, Mario, Doquenia, Maria Leila, Rosales, Raymond, Vinuela, Angel, Iakovenko, Elena, Al Mubarak, Bashayer, Umair, Muhammad, Amod, Ferzana, Carr, Jonathan, Bardien, Soraya, Jeon, Beomseok, Kim, Yun Joong, Cubo, Esther, Alvarez, Ignacio, Hoenicka J, Beyer, Katrin, Perinan, Maria Teresa, Pastor, Pau, El-Sadig, Sarah, Brolin, Kajsa, Zweier, Christiane, Tinkhauser, Gerd, Krack, Paul, Lin, Chin-Hsien, Wu, Hsiu-Chuan, Kung, Pin-Jui, Wu, Ruey-Meei, Wu, Yihru, Amouri, Rim, Ben Sassi, Samia, Basak, A. Nazl, Genc, Gencer, Cakmak, Ozguer Oztop, Ertan, Sibel, Martinez-Carrasco, Alejandro, Schrag, Anette, Schapira, Anthony, Carroll, Camille, Bale, Claire, Grosset, Donald, Stafford, Eleanor J., Houlden, Henry, Morris, Huw R., Hardy, John, Mok, Kin Ying, Rizig, Mie, Wood, Nicholas, Williams, Nigel, Okunoye, Olaitan, Lewis, Patrick Alfryn, Kaiyrzhanov, Rauan, Weil, Rimona, Love, Seth, Stott, Simon, Jasaityte, Simona, Dey, Sumit, Obese, Vida, Espay, Alberto, O'Grady, Alyssa, Sobering, Andrew K., Siddiqi, Bernadette, Casey, Bradford, Fiske, Brian, Jonas, Cabell, Cruchaga, Carlos, Pantazis, Caroline B., Comart, Charisse, Wegel, Claire, Hall, Deborah, Hernandez, Dena, Shiamim, Ejaz, Riley, Ekemini, Faghri, Faraz, Serrano, Geidy E., Chen, Honglei, Mata, Ignacio F., Sarmiento, Ignacio Juan Keller, Williamson, Jared, Jankovic, Joseph, Shulman, Joshua, Solle, Justin C., Murphy, Kaileigh, Nuytemans, Karen, Kieburtz, Karl, Markopoulou, Katerina, Marek, Kenneth, Levine, Kristin S., Chahine, Lana M., Ibanez, Laura, Screven, Laurel, Ruffrage, Lauren, Shulman, Lisa, Marsili, Luca, Kuhl, Maggie, Dean, Marissa, Koretsky, Mathew, Puckelwartz, Megan J., Inca-Martinez, Miguel, Louie, Naomi, Mencacci, Niccolo Emanuele, Albin, Roger, Alcalay, Roy, Walker, Ruth, Chowdhury, Sohini, Dumanis, Sonya, Lubbe, Steven, Xie, Tao, Foroud, Tatiana, Beach, Thomas, Sherer, Todd, Song, Yeajin, Nguyen, Duan, Nguyen, Toan, Atadzhanov, Masharip, Blauwendraat, Cornelis, Nalls, Mike A., Foo, Jia Nee and Mata, Ignacio.
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease
NATURE GENETICS . 56(1): . Nº de cites: 12
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Epifani F, Pujol Serra SM, Llorens M, Balsells S, Nolasco-Tovar GA, Bolasell M, SERGIO AGUILERA ALBESA, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R and Serrano M.
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
SCIENTIFIC REPORTS . 13(1): 22783-22783.
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Lorenzo D, Esquerda-Areste M, Bofarull M, Cusi V, Roig H, Bertran J, Carrera J, Torralba F, Cambra-Lasaosa FJ, Vila M, Garriga M and Palau F.
The reuse of genetic information in research and informed consent
EUROPEAN JOURNAL OF HUMAN GENETICS . 31(12): 1393-1397. Nº de cites: 1
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Rizig M, Bandres-Ciga S, Makarious MB, Ojo OO, Crea PW, Abiodun OV, Levine KS, Abubakar SA, Achoru CO, Vitale D, Adeniji OA, Agabi OP, Koretsky MJ, Agulanna U, Hall DA, Akinyemi RO, Xie T, Ali MW, Shamim EA, Ani-Osheku I, Padmanaban M, Arigbodi OM, Standaert DG, Bello AH, Dean MN, Erameh CO, Elsayed I, Farombi TH, Okunoye O, Fawale MB, Billingsley KJ, Imarhiagbe FA, Jerez PA, Iwuozo EU, Baker B, Komolafe MA, Malik L, Nwani PO, Daida K, Nwazor EO, Miano-Burkhardt A, Nyandaiti YW, Fang ZH, Obiabo YO, Kluss JH, Odeniyi OA, Hernandez DG, Odiase FE, Tayebi N, Ojini FI, Sidranksy E, Onwuegbuzie GA, D'Souza AM, Osaigbovo GO, Berhe B, Osemwegie N, Reed X, Oshinaike OO, Leonard HL, Otubogun FM, Alvarado CX, Oyakhire SI, Ozomma SI, Samuel SC, Taiwo FT, Wahab KW, Zubair YA, Iwaki H, Kim JJ, Morris HR, Hardy J, Nalls MA, Heilbron K, Norcliffe-Kaufmann L, Blauwendraat C, Houlden H, Singleton A and Okubadejo NU.
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.
LANCET NEUROLOGY . 22(11): 1015-1025.
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Pijuan-Marquilles J, Moreno, DF, Yahya, G, Moisa, M, Ul Haq, I, Krukiewicz, K, Mosbah, R, Metwally, K and Cavalu, S.
Regulatory and pathogenic mechanisms in response to iron deficiency and excess in fungi
Microbial Biotechnology . 16(11): 2053-2071. Nº de cites: 5