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Academic Journal
In Brain and Development March 2021 43(3):380-388
Academic Journal
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair; Pennavaria, Ajia; Krogstad, Liv; Bekkelund, Åse; Caiella, Alessia; Glomnes, Nina; Brønstad, Kirsten; Tury, Sandrine; Moreno De Luca, Andrés; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; İpek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra; Lochmuller, Hanns; Daas, Sahar; Fakhro, Khalid; Gómez-Pascual, Alicia; Botía, Juan; Wood, Nicholas; Horvath, Rita; Ernst, Andreas; Rothman, James; McEntagart, Meriel; Crow, Yanick; Alkuraya, Fowzan; Nicolas, Gaël; Arnesen, Thomas; Houlden, Henry
Nature Communications. 15(1)
Academic Journal
Bohlega, Saeed; Abusrair, Ali H.; Al-Ajlan, Fahad S.; Alharbi, Norah; Al-Semari, Abdulaziz; Bohlega, Balsam; Abualsaud, Dalya; Alkuraya, Fowzan
In Parkinsonism and Related Disorders December 2019 69:99-103
Academic Journal
de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle; Bryant, Emily; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen; Friedman, Jennifer; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn; Owens, Joshua; Husami, Ammar; Chaudhari, Bimal; Stone, Brandon; Burns, Katie; Li, Rachel; de Lange, Iris; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf; Trimouille, Aurélien; Argilli, Emanuela
Journal of Medical Genetics. 60(10)
Academic Journal
Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal; Cabrol, Christelle; Cilio, Maria; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
European Journal of Human Genetics. 31(9)
Academic Journal
DiStefano, Marina; Alkuraya, Fowzan; Amberger, Joanna; Austin-Tse, Christina; Austine, Ola; Balzotti, Marie; Berg, Jonathan; Bruford, Elspeth; Byrne, Alicia; Cibrian-Uhalte, Elena; Coffey, Alison; Firth, Helen; Hamosh, Ada; Hunt, Sarah; Klein, Teri; Kurtz, Catherine; Leigh, Sarah; Leong, Ivone; Lucano, Caterina; Maddirevula, Sateesh; O'Neill, Audrey; Puzriakova, Arina; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Taylor, Julie; Sangkuhl, Katrin; Snow, Catherine; Stark, Zornitza; Ware, James; Wayburn, Bess; Weller, Phillip; Rehm, Heidi
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Palmer, Elizabeth; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan; Chedrawi, Aziza; Hashem, Mais; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer; Sands, Tristan; Wilson, Golder; Silvertooth, Erin; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein; Ockeloen, Charlotte; Pfundt, Rolph; Kroft, Sanne; Field, Michael; Laranjeira, Francisco; Fortuna, Ana; Soares, Ana; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David; Bird, Lynne; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe; Blazo, Maria; Bijlsma, Emilia; Rosenfeld, Jill; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb; Armstrong, Ruth; Kalscheuer, Vera
Molecular Psychiatry. 28(2)
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Academic Journal
DiStefano, Marina; Amberger, Joanna; Austin-Tse, Christina; Balzotti, Marie; Amin, Mutaz; Berg, Jonathan; Bocchini, Carol; Bruford, Elspeth; Alkuraya, Fowzan; Coffey, Alison; Collins, Heather; Cunningham, Fiona; Firth, Helen; Fitzpatrick, David; Einhorn, Yaron; Goldstein, Jennifer; Hamosh, Ada; Leigh, Sarah; Leong, Ivone; Martin, Christa; McDonagh, Ellen; Puzriakova, Arina; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Sangkuhl, Katrin; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Ware, James; Williams, Eleanor; Wright, Caroline; Yates, Michael; Weller, Phillip; Rehm, Heidi
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Almannai, Mohammed; AlAbdi, Lama; Maddirevula, Sateesh; Alotaibi, Maha; AlSaleem, Bader; Aljadhai, Yaser; Alsaif, Hessa; Khalid, Mussad Abu; Alkuraya, Fowzan
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Rabea, Fatma; El Naofal, Maha; Chekroun, Ikram; Khalaf, Mona; Zaabi, Nuha Al; AlZaabi, Khawla; ElHalik, Mahmoud; Dash, Swarup; El Saba, Yaser; Ali, Azhari; Abraham, Smitha; Fathi, Khansa; Shekhy, Jwan; Aswad, Saad G.; Elbashir, Haitham; Alkuraya, Fowzan; Loney, Tom; Alsheikh-Ali, Alawi; Khayat, Abdulla Al; Abou Tayoun, Ahmad
Communications Medicine. 4(1)
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