부산대학교 도서관

Ghayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts

Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)

Vendrell, Xavier; Abulí, Anna; Serra, Clara; Guillén, Juan José; Rueda, Joaquín; García-Planells, Javier; Santos-Simarro, Fernando; Quiroga, Ramiro; Abellán, Fernando; Oancea-Ionescu, Raluca; Guillén-Navarro, Encarna

European Journal of Human Genetics. 33(4):402-412

Salinas Chaparro, Diana; Muñoz Cabello, Patricia; Escribano Serrano, Gema; Torres López, Maite; Tizzano, Eduardo F.; Martinez-Monseny, Antonio F.; Santos-Simarro, Fernando

Anales de Pediatría (English Edition). 103(6)

Pacio Miguez, Marta; García-Miñaúr, Sixto; del Pozo, Ángela; Menéndez Suso, Juan José; Climent Alcalá, Francisco J.; Sánchez Holgado, María; Álvarez García, Patricia; Jiménez Rodríguez, Carmen; Santos-Simarro, Fernando; Palomares-Bralo, María

Anales de Pediatría (English Edition). 103(5)

Marta Pacio Miguez; Sixto García-Miñaúr; Ángela del Pozo; Juan José Menéndez Suso; Francisco J. Climent Alcalá; María Sánchez Holgado; Patricia Álvarez García; Carmen Jiménez Rodríguez; Fernando Santos-Simarro; María Palomares-Bralo

Anales de Pediatría, Vol 103, Iss 5, Pp 503956- (2025)

Bou-Rouphael, Johnny ; Cospain, Auriane ; Courtin, Thomas ; Keren, Boris ; Marie, Corentine ; Lesieur-Sebellin, Marion ; Heron, Delphine ; de Sainte Agathe, Jean-Madeleine ; Heide, Solveig ; Lejeune, Elodie ; Quelin, Chloe ; Lecoquierre, François ; Nizon, Mathilde ; Isidor, Bertrand ; Besnard, Thomas ; Cogne, Benjamin ; Latypova, Xenia ; Levy, Jonathan ; Joset, Pascal ; Steindl, Katharina ; Palomares-Bralo, Maria ; Santos-Simarro, Fernando ; Thomas, Mary Ann ; Abubakar, Amina ; Lynch, Sally Ann ; Müller, Amelie J. ; Haack, Tobias B. ; Zenker, Martin ; Parker, Michael ; Clossick, Emma ; Spiller, Michael ; Crookes, Renarta ; Holder-Espinasse, Muriel ; Bayat, Allan ; Møller, Rikke S. ; Mieszczanek, Tomasz Stanislaw ; de la Grange, Pierre ; Buratti, Julien ; Marijon, Pierre ; Ataf, Sabir ; Gavin, Ryan ; Parras, Carlos ; Hassan, Bassem A. ; Mignot, Cyril ; El Khattabi, Laïla

In The American Journal of Human Genetics 6 November 2025 112(11):2605-2624

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Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
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In Anales de Pediatria May 2025

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Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
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In Human Genetics and Genomics Advances 18 July 2024 5(3)

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Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
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Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears

Denommé-Pichon, Anne-Sophie ; Collins, Stephan C. ; Bruel, Ange-Line ; Mikhaleva, Anna ; Wagner, Christel ; Vancollie, Valerie E. ; Thomas, Quentin ; Chevarin, Martin ; Weber, Mathys ; Prada, Carlos E. ; Overs, Alexis ; Palomares-Bralo, María ; Santos-Simarro, Fernando ; Pacio-Míguez, Marta ; Busa, Tiffany ; Legius, Eric ; Bacino, Carlos A. ; Rosenfeld, Jill A. ; Le Guyader, Gwenaël ; Egloff, Matthieu ; Le Guillou, Xavier ; Mencarelli, Maria Antonietta ; Renieri, Alessandra ; Grosso, Salvatore ; Levy, Jonathan ; Dozières, Blandine ; Desguerre, Isabelle ; Vitobello, Antonio ; Duffourd, Yannis ; Lelliott, Christopher J. ; Thauvin-Robinet, Christel ; Philippe, Christophe ; Faivre, Laurence ; Yalcin, Binnaz

In Genetics in Medicine July 2023 25(7)

Levy, Michael; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara; Elting, Mariet; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin; Cherick, Florian; Foroutan, Aidin; Friez, Michael; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond; Maitz, Silvia; Milani, Donatella; Morgan, Angela; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie; Piccione, Maria; Plomp, Astrid; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje; Vergano, Samantha; Vos, Niels; Walden, Kellie; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer; Mannens, Marcel; Roscioli, Tony; Siu, Victoria; Amor, David; Baynam, Gareth; Bend, Eric; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill; Fleming, Mark; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin; Mcneill, Alisdair; Menke, Leonie; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven; Stevenson, Roger; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew; Sadikovic, Bekim

Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, 'Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders', Human Mutation, vol. 43, no. 11, pp. 1609-1628. https://doi.org/10.1002/humu.24446
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, M P, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, 'Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders', Human Mutation. https://doi.org/10.1002/humu.24446

Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Mónica; Sánchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, María; Santos-Simarro, Fernando; Cancho-Candela, Ramón; Vázquez-López, María; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Serrano, Mercedes; Rabionet Janssen, Raquel; Martin, Miguel A.; Urreizti, Roser

Articles publicats en revistes (Genètica, Microbiologia i Estadística)
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Brooker, Sarah M.; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A.; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Boelsterli, Bigna K.; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A.; Ezell, Kimberly M.; Foucard, Cendrine; Frucht, Steven J.; Garcia, Maria C.; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suner, Damia; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U.; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C.; Mendelsohn, Bryce A.; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S.; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M.; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E.; Serari, Naoual; Stahl, Christine M.; Kung, Ann Stembridge; Tarongi Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F.; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J.; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S. C.; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolo E.

ANNALS OF NEUROLOGY; JUL 1 2025, 12p.