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  • Dominguez-Brezosa L, Cantarero-Abad L, Rodríguez-Sanz M, Tort-Vázquez G, Garrido E, Johanna Troya Balseca, Saez M, Castro-Martinez X, Fernandez-Lizarbe S, Urquizu E, Calvo E, Lopez JA, Palomo T, Palau F and Hoenicka J.

    ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(19): 10705.

    [doi:10.3390/ijms251910705]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

    EUROPEAN JOURNAL OF HUMAN GENETICS . : .

    [doi:10.1038/s41431-024-01699-4]

  • Ojo OO, Bandres-Ciga S, Makarious MB, Crea PW, Hernandez DG, Houlden H, Rizig M, Singleton AB, Noyce AJ, Nalls MA, Blauwendraat C and Okubadejo NU.

    GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.

    MOVEMENT DISORDERS . 39(4): 728-733. Number of citations: 2

    [doi:10.1002/mds.29753]

  • 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.

    [doi:10.1111/cge.14454]

  • 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. Number of citations: 1

    [doi:10.3233/JND-230216]

  • 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): . Number of citations: 19

    [doi:10.1038/s41588-023-01584-8]

  • 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.

    [doi:10.1016/S1474-4422(23)00283-1]

  • Towns C, Richer M, Jasaityte S, Stafford EJ, Joubert J, Antar T, Martinez-Carrasco A, Makarious MB, Casey B, Vitale D, Levine K, Leonard H, Pantazis CB, Screven LA, Hernandez DG, Wegel CE, Solle J, Nalls MA, Blauwendraat C, Singleton AB, Tan MMX, Iwaki H and Morris HR.

    Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2).

    npj Parkinsons Disease . 9(1): 131-131. Number of citations: 6

    [doi:10.1038/s41531-023-00533-w]

  • Cantarero-Abad L, García-Vargas G, Hoenicka J and Palau F.

    Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites

    BIOLOGY OPEN . 12(4): . Number of citations: 1

    [doi:10.1242/bio.059707]

  • Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.

    Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

    ACTA NEUROPATHOLOGICA . 145(4): 479-496. Number of citations: 1

    [doi:10.1007/s00401-023-02551-7]