학술논문
'학술논문'
에서 검색결과 1,163건 | 목록
1~20
Academic Journal
Bastille, Isle ; Lee, Lucy ; Moncada-Reid, Cynthia ; Yu, Wei-Ming ; Sitko, Austen ; Yung, Andrea ; Zamani, Mina ; Christophersen, Nele ; Maroofian, Reza ; Galehdari, Hamid ; Babai, Norbert ; Vona, Barbara ; Moser, Tobias ; Goodrich, Lisa
In Cell Reports 24 June 2025 44(6)
Academic Journal
Groppa, Stanislav; Marinova Karashova, Blagovesta; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belen; Di Rosa, Gabriella; Goraya, Jatinder S.; Sultan, Tipu; Mine, Jun; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Pineda-Marfa, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrotti, Alberto; Marseglia, Giangluigi; Savasta, Salvatore; García-Silva, Mayte; Macaya Ruiz, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Monteagudo Sanchez, Benigno; Boles, Richard; Papacostas, Savvas; Vikelis, Michail; Zamba Papanicolaou, Eleni; Dardiotis, Efthymios; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Koutsis, George; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Morello, Giovanna; Stojkovic, Tanya; Zollo, Massimo; Heimer, Gali; Dauvilliers, Yves A.; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Hamed, Sherifa Ahmed; Abd El Hamed, Mohamed A.; Khachatryan, Samson; Guliyeva, Ulviyya; Guliyeva, Sughra; Salayev, Kamran; Xiromerisiou, Georgia; Fidani, Liana; Spanaki, Cleanthe; Aguennouz, Mhammed; Silvestri, Gabriella; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Al-Ajmi, Abdullah; Lim, Shen-Yang; Shaikh, Farooq; El Khorassani, Mohamed; van den Maagdenberg, Arn M.J.M.; Okubadejo, Njideka U.; Ojo, Oluwadamilola O.; Wahab, Kolawole; Bello, Abiodun H.; Abubakar, Sanni; Obiabo, Yahaya; Nwazor, Ernest; Ekenze, Oluchi; Williams, Uduak; Iyagba, Alagoma; Taiwo, Lolade; Komolafe, Morenikeji; Oguntunde, Olapeju; Senkevich, Konstantin; Manizha, Ganieva; Isrofilov, Maksud; Torti, Erin; Zaki, Maha; Tomoum, Hoda; Nabil, Amira; Nicolaides, Paola; Haider, Shahzad; Hasbini, Dana; Alam, Chadi el; Huneineh, Mona; Zafar, Faisal; Afzal, Erum; Muhammad, Ilyas; Nalini, Atchayaram; Bakhtaze, Sofia; Baig, Shahid; Issa, Ben; Triki, Chahnez; Bassam, Mussa; Craiou, Dana; Tazir, Meriem; Patcha, Lamia Ali; Waill Saadi, Nebal; Benrhouma, Hanene; Saraf, Payam; Hama Salih, Khalid; Awatif; Alabdi, Lama ; Altuwaijri, Norah ; Zhu, Jun-yi ; Efthymiou, Stephanie ; Lee, Hangnoh ; Duan, Jianli ; Salem, Israa ; Yu, Piao ; Abdullah, Nor Linda ; Alzahrani, Fatema ; Xu, Qing ; Felemban, Mashael M. ; Alfaifi, Abdullah ; Rahman, Fatima ; Christoforou, Marilena ; Maqbool, Shazia ; Martinez-Agosto, Julian A. ; Alsaif, Hessa S. ; Hashem, Mais ; Helaby, Rana ; Alsulaiman, Ahood ; Maroofian, Reza ; Houlden, Henry ; Arold, Stefan T. ; Ibrahim, Leena A. ; Han, Zhe ; Alkuraya, Fowzan S.
In eBioMedicine June 2025 116
Academic Journal
Dardas, Zain ; Harrold, Laura ; Calame, Daniel G. ; Salter, Claire G. ; Kikuma, Takashi ; Guay, Kevin P. ; Ng, Bobby G. ; Sano, Kanae ; Saad, Ahmad K. ; Du, Haowei ; Sangermano, Riccardo ; Patankar, Sohil G. ; Jhangiani, Shalini N. ; Gürsoy, Semra ; Abdel-Hamid, Mohamed S. ; Ahmed, Mahmoud K.H. ; Maroofian, Reza ; Kaiyrzhanov, Rauan ; Salayev, Kamran ; Jones, Wendy D. ; Pérez Caballero, Ana ; McGavin, Lucy ; Spiller, Michael ; Durkie, Miranda ; Wood, Nick ; O’Grady, Lauren ; Goldenberg, Paula ; Neumeyer, Ann M. ; Begtrup, Amber ; Abdel-Ghafar, Sherif F. ; Zaki, Maha S. ; Van Esch, Hilde ; Posey, Jennifer E. ; Wenger, Olivia K. ; Scott, Ethan M. ; Bujakowska, Kinga M. ; Gibbs, Richard A. ; Pehlivan, Davut ; Marafi, Dana ; Leslie, Joseph S. ; Ubeyratna, Nishanka ; Day, Jacob ; Owens, Martina ; Settle, Jessica ; Balkhy, Soher ; Tamim, Abdullah ; Alabdi, Lama ; Alkuraya, Fowzan S. ; Takeda, Yoichi ; Freeze, Hudson H. ; Hebert, Daniel N. ; Lupski, James R. ; Crosby, Andrew H. ; Baple, Emma L.
In The American Journal of Human Genetics 1 May 2025 112(5):1139-1157
Academic Journal
Efthymiou, Stephanie ; Leo, Cailyn P. ; Deng, Chenghong ; Lin, Sheng-Jia ; Maroofian, Reza ; Lin, Renee ; Karagoz, Irem ; Zhang, Kejia ; Kaiyrzhanov, Rauan ; Scardamaglia, Annarita ; Owrang, Daniel ; Turchetti, Valentina ; Jahnke, Friederike ; Huang, Kevin ; Petree, Cassidy ; Derrick, Anna V. ; Rees, Mark I. ; Alvi, Javeria Raza ; Sultan, Tipu ; Li, Chumei ; Jacquemont, Marie-Line ; Tran-Mau-Them, Frederic ; Valenzuela-Palafoll, Maria ; Sidlow, Rich ; Yoon, Grace ; Morrow, Michelle M. ; Carere, Deanna Alexis ; O'Connor, Mary ; Fleischer, Julie ; Gerkes, Erica H. ; Phornphutkul, Chanika ; Isidor, Bertrand ; Rivier-Ringenbach, Clotilde ; Philippe, Christophe ; Kurul, Semra Hiz ; Soydemir, Didem ; Kara, Bulent ; Sunnetci-Akkoyunlu, Deniz ; Bothe, Viktoria ; Platzer, Konrad ; Wieczorek, Dagmar ; Koch-Hogrebe, Margarete ; Rahner, Nils ; Thuresson, Ann-Charlotte ; Matsson, Hans ; Frykholm, Carina ; Bozdoğan, Sevcan Tuğ ; Bisgin, Atil ; Chatron, Nicolas ; Lesca, Gaetan ; Cabet, Sara ; Tümer, Zeynep ; Hjortshøj, Tina D. ; Rønde, Gitte ; Marquardt, Thorsten ; Reunert, Janine ; Afzal, Erum ; Zamani, Mina ; Azizimalamiri, Reza ; Galehdari, Hamid ; Nourbakhsh, Pardis ; Chamanrou, Niloofar ; Chung, Seo-Kyung ; Suri, Mohnish ; Benke, Paul J. ; Zaki, Maha S. ; Gleeson, Joseph G. ; Calame, Daniel G. ; Pehlivan, Davut ; Yilmaz, Halil I. ; Gezdirici, Alper ; Rad, Aboulfazl ; Abumansour, Iman Sabri ; Oprea, Gabriela ; Bereketoğlu, Muhammed Burak ; Banneau, Guillaume ; Julia, Sophie ; Zeighami, Jawaher ; Ashoori, Saeed ; Shariati, Gholamreza ; Sedaghat, Alireza ; Sabri, Alihossein ; Hamid, Mohammad ; Parvas, Sahere ; Tajudin, Tajul Arifin ; Abdullah, Uzma ; Baig, Shahid Mahmood ; Chung, Wendy K. ; Glazunova, Olga O. ; Sabine, Sigaudy ; Cheema, Huma Arshad ; Zifarelli, Giovanni ; Bauer, Peter ; Sidpra, Jai ; Mankad, Kshitij ; Vona, Barbara ; Fry, Andrew E. ; Varshney, Gaurav K. ; Houlden, Henry ; Fu, Dragony
In The American Journal of Human Genetics 1 May 2025 112(5):1117-1138
Academic Journal
Cali, Elisa ; Quirin, Tania ; Rocca, Clarissa ; Efthymiou, Stephanie ; Riva, Antonella ; Marafi, Dana ; Zaki, Maha S. ; Suri, Mohnish ; Dominguez, Roberto ; Elbendary, Hasnaa M. ; Alavi, Shahryar ; Abdel-Hamid, Mohamed S. ; Morsy, Heba ; Mau-Them, Frederic Tran ; Nizon, Mathilde ; Tesner, Pavel ; Ryba, Lukáš ; Zafar, Faisal ; Rana, Nuzhat ; Saadi, Nebal W. ; Firoozfar, Zahra ; Gencpinar, Pinar ; Unay, Bulent ; Ustun, Canan ; Bruel, Ange-Line ; Coubes, Christine ; Stefanich, Jennifer ; Sezer, Ozlem ; Agolini, Emanuele ; Novelli, Antonio ; Vasco, Gessica ; Lettori, Donatella ; Milh, Mathieu ; Villard, Laurent ; Zeidler, Shimriet ; Opperman, Henry ; Strehlow, Vincent ; Issa, Mahmoud Y. ; El Khassab, Hebatallah ; Chand, Prem ; Ibrahim, Shahnaz ; Rashidi-Nezhad, Ali ; Miryounesi, Mohammad ; Larki, Pegah ; Morrison, Jennifer ; Cristian, Ingrid ; Thiffault, Isabelle ; Bertsch, Nicole L. ; Noh, Grace J. ; Pappas, John ; Moran, Ellen ; Marinakis, Nikolaos M. ; Traeger-Synodinos, Joanne ; Hosseini, Susan ; Abbaszadegan, Mohammad Reza ; Caumes, Roseline ; Vissers, Lisenka E.L.M. ; Neshatdoust, Maedeh ; Montazer Zohour, Mostafa ; El Fahime, Elmostafa ; Canavati, Christina ; Kamal, Lara ; Kanaan, Moien ; Askander, Omar ; Voinova, Victoria ; Levchenko, Olga ; Haider, Shahzhad ; Halbach, Sara S. ; Elias Maia, Rayana ; Mansoor, Salehi ; Jain, Vivek ; Tawde, Sanjukta ; Challa, Viveka Santhosh R. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Victor, Lucas Alves ; Pinero-Banos, Benito ; Hague, Jennifer ; ElAwady, Heba Ahmed ; Maria de Miranda Henriques-Souza, Adelia ; Cheema, Huma Arshad ; Anjum, Muhammad Nadeem ; Idkaidak, Sara ; Alqarajeh, Firas ; Atawneh, Osama ; Mor-Shaked, Hagar ; Harel, Tamar ; Zifarelli, Giovanni ; Bauer, Peter ; Kok, Fernando ; Kitajima, Joao Paulo ; Monteiro, Fabiola ; Josahkian, Juliana ; Lesca, Gaetan ; Chatron, Nicolas ; Ville, Dorothe ; Murphy, David ; Neul, Jeffrey L. ; Mullegama, Sureni V. ; Begtrup, Amber ; Herman, Isabella ; Mitani, Tadahiro ; Posey, Jennifer E. ; Tay, Chee Geap ; Javed, Iram ; Carr, Lucinda ; Kanani, Farah ; Beecroft, Fiona ; Hane, Lee ; Abdelkreem, Elsayed ; Macek, Milan ; Bispo, Luciana ; Elmaksoud, Marwa Abd ; Hashemi-Gorji, Farzad ; Pehlivan, Davut ; Amor, David J. ; Jamra, Rami Abou ; Chung, Wendy K. ; Ghayoor Karimiani, Eshan ; Campeau, Philippe M. ; Alkuraya, Fowzan S. ; Pagnamenta, Alistair T. ; Gleeson, Joseph G. ; Lupski, James R. ; Striano, Pasquale ; Moreno-De-Luca, Andres ; Lafontaine, Denis L.J. ; Houlden, Henry ; Maroofian, Reza
In Genetics in Medicine April 2025 27(4)
Academic Journal
Buchert, Rebecca ; Burkhalter, Martin D. ; Huridou, Chrisovalantou ; Sofan, Linda ; Roser, Timo ; Cremer, Kirsten ; Alvi, Javeria Raza ; Efthymiou, Stephanie ; Froukh, Tawfiq ; Gulieva, Sughra ; Guliyeva, Ulviyya ; Hamdallah, Moath ; Holder-Espinasse, Muriel ; Kaiyrzhanov, Rauan ; Klingler, Doreen ; Koko, Mahmoud ; Matthies, Lars ; Park, Joohyun ; Sturm, Marc ; Velic, Ana ; Spranger, Stephanie ; Sultan, Tipu ; Engels, Hartmut ; Lerche, Holger ; Houlden, Henry ; Pagnamenta, Alistair T. ; Borggraefe, Ingo ; Weber, Yvonne ; Bonnen, Penelope E. ; Maroofian, Reza ; Riess, Olaf ; Weber, Jonasz J. ; Philipp, Melanie ; Haack, Tobias B.
In The American Journal of Human Genetics 6 February 2025 112(2):374-393
Academic Journal
Rawlins, Lettie E. ; Maroofian, Reza ; Cannon, Stuart J. ; Daana, Muhannad ; Zamani, Mina ; Ghani, Shamsul ; Leslie, Joseph S. ; Ubeyratna, Nishanka ; Khan, Nasar ; Khan, Hamid ; Scardamaglia, Annarita ; Cloarec, Robin ; Khan, Shujaat Ali ; Umair, Muhammad ; Sadeghian, Saeid ; Galehdari, Hamid ; Al-Maawali, Almundher ; Al-Kindi, Adila ; Azizimalamiri, Reza ; Shariati, Gholamreza ; Ahmad, Faraz ; Al-Futaisi, Amna ; Rodriguez Cruz, Pedro M. ; Salazar-Villacorta, Ainara ; Ndiaye, Moustapha ; Diop, Amadou G. ; Sedaghat, Alireza ; Saberi, Alihossein ; Hamid, Mohammad ; Zaki, Maha S. ; Vona, Barbara ; Owrang, Daniel ; Alhashem, Abdullah M. ; Obeid, Makram ; Khan, Amjad ; Beydoun, Ahmad ; Najjar, Marwan ; Tajsharghi, Homa ; Zifarelli, Giovanni ; Bauer, Peter ; Hakami, Wejdan S. ; Al Hashem, Amal M. ; Boustany, Rose-Mary N. ; Burglen, Lydie ; Alavi, Shahryar ; Gunning, Adam C. ; Owens, Martina ; Karimiani, Ehsan G. ; Gleeson, Joseph G. ; Milh, Mathieu ; Salah, Somaya ; Khan, Jahangir ; Haucke, Volker ; Wright, Caroline F. ; McGavin, Lucy ; Elpeleg, Orly ; Shabbir, Muhammad I. ; Houlden, Henry ; Ebner, Michael ; Baple, Emma L. ; Crosby, Andrew H.
In Genetics in Medicine February 2025 27(2)
Academic Journal
Zhang, Kejia ; Manning, Aidan C. ; Lentini, Jenna M. ; Howard, Jonathan ; Dalwigk, Felix ; Maroofian, Reza ; Efthymiou, Stephanie ; Chan, Patricia ; Eliseev, Sergei I. ; Yang, Zi ; Chang, Hayley ; Karimiani, Ehsan Ghayoor ; Bakhshoodeh, Behnoosh ; Houlden, Henry ; Kaiser, Stefanie M. ; Lowe, Todd M. ; Fu, Dragony
In Cell Reports 28 January 2025 44(1)
Academic Journal
Quinlan, Aaron; Vanderver, Adeline; Rebelo, Adriana; Allworth, Aimee; Beggs, Alan H.; Huang, Alden; Paul, Alex; Al-Beshri, Ali; Ward, Alistair; McConkie-Rosell, Allyn; Tran, Alyssa A.; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B.; Stergachis, Andrew; Beck, Anita; Hurst, Anna; Raper, Anna; Hing, Anne; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Maghiro, AudreyStephannie C.; Pusey Swerdzewski, Barbara N.; Afzali, Ben; Solomon, Ben; Martin, Beth A.; Mitchell, Breanna; Lanpher, Brendan C.; Lee, Brendan H.; Fogel, Brent L.; Graham, Brett H.; Corner, Brian; Korf, Bruce; MacRae, Calum A.; Toro, Camilo; Skraban, Cara; Bacino, Carlos A.; Smith, Carson A.; Esteves, Cecilia; Xiao, Changrui; Reuter, Chloe M.; Lam, Christina; Eng, Christine M.; Henchcliffe, Claire; Wahl, Colleen E.; Welt, Corrine K.; Tifft, Cynthia J.; Kiley, Dana; Doherty, Daniel; Rader, Daniel J.; Wegner, Daniel; Miller, Danny; Scott, Daryl A.; Viskochil, Dave; Sweetser, David A.; Adams, David R.; Earl, Dawn; Barbouth, Deborah; Rao, Deepak A.; Oglesbee, Devin; Bonner, Devon; Novacic, Donna; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K.; Seto, Elaine; Kravets, Elijah; Burke, Elizabeth A.; Blue, Elizabeth; Fieg, Elizabeth L.; Rosenthal, Elizabeth; Macnamara, Ellen F.; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Allenspach, Eric; Klee, Eric; Vilain, Eric; Baldwin, Erin; Conboy, Erin; Baldwin, Erin E.; McRoy, Erin; Dell'Angelica, Esteban C.; Ashley, Euan A.; Cole, F. Sessions; Pinto e Vairo, Filippo; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M.; Marth, Gabor; Jarvik, Gail P.; Clark, Gary D.; Carvalho, George; Berry, Gerard T.; Mirzaa, Ghayda; Bejerano, Gill; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Wood, Heidi; Taylor, Herman; Tabor, Holly K.; Dai, Hongzheng; Chao, Hsiao-Tuan; Bellen, Hugo J.; Glass, Ian; Lanza, Ian R.; Holm, Ingrid A.; Kohane, Isaac S.; Chinn, Ivan; Pallais, J. Carl; Sampson, Jacinda B.; Orengo, James P.; Hom, Jason; Kohler, Jennefer N.; Posey, Jennifer E.; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A.; Shin, Jimann; Bennett, Jimmy; Stoler, Joan M.; Gonzalez, Joanna M.; Phillips, John A., III; Carey, John; Mulvihill, John J.; Davis, Joie; Bernstein, Jonathan A.; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D.; Martínez-Agosto, Julian A.; Alvey, Justin; Darr, Kahlen; Callaway, Kaitlin; Leppig, Kathleen A.; Sullivan, Kathleen; Sisco, Kathy; Singh, Kathyrn; Dipple, Katrina; Treat, Kayla M.; Hassey, Kelly; Schoch, Kelly; Smith, Kevin S.; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Latchman, Kumarie; Rodan, Lance H.; Pace, Laura; Cobban, Laurel A.; Briere, Lauren C.; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C.; Mulvihill, Lindsay; Schimmenti, Lisa; Emrick, Lisa T.; Botto, Lorenzo; Potocki, Lorraine; Rives, Lynette; Wolfe, Lynne A.; Butte, Manish J.; Delgado, Margaret; Acosta, Maria T.; Morimoto, Marie; Nakano-Okuno, Mariko; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G.; Rodriguez, Martin; Velinder, Matt; Coggins, Matthew; Might, Matthew; Wheeler, Matthew T.; Ruzhnikov, Maura; Malicdan, MayChristine V.; Halley, Meghan C.; Walker, Melissa; Bamshad, Michael; Wangler, Michael F.; Almalvez, Miguel; Mikati, Mohamad; Hubshman, Monika Weisz; Westerfield, Monte; Tekin, Mustafa; Dorrani, Naghmeh; Parker, Neil H.; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M.; Movsesyan, Nina; Dargie, Nitsuh K.; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C.; Moretti, Paolo; Ward, Patricia A.; Dickson, Patricia; Fisher, Paul G.; Liu, Pengfei; Byers, Peter; Bayrak-Toydemir, Pinar; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A.; Mahoney, Rachel; Rajagopalan, Ramakrishnan; Alvarez, Raquel L.; Spillmann, Rebecca C.; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A.; Maas, Richard L.; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I.; Butterfield, Russell; Sheppeard, Sam; Attaripour, Sanaz; Lalani, Seema R.; Neumann, Serena; Ketkar, Shamika; Sunyaev, Shamil R.; Kobren, Shilpa N.; Yamamoto, Shinya; Sutton, Shirley; Marwaha, Shruti; Chanprasert, Sirisak; Nelson, Stanley F.; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M.; Pak, Stephen; Boyden, Steven; Jayadev, Suman; Dasari, Surendra; Korrick, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Wenger, Tara; Coakley, Terra R.; Cassini, Thomas; Nicholas, Thomas J.; Schedl, Timothy; Vogel, Tiphanie P.; Jobanputra, Vaidehi; Maduro, Valerie V.; Shashi, Vandana; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A.; Byrd, William E.; Craigen, William J.; Huang, Yan; Karasozen, Yigit; Dore, Rhys ; Chang, Chu-Ting ; Declève, Amber ; Brunori, Gloria ; Ludlam, W. Grant ; Movahedinia, Mojtaba ; Damseh, Nadirah S. ; Anwar, Ijaz ; Vahidi Mehrjardi, Mohammad Yahya ; Ny, Annelii ; Khorrami, Mehdi ; Kheirollahi, Majid ; Frederiksen, Helen ; Eghbal, Fatemeh ; Mirjalili, Mohammad Reza ; Dehghani, Mohammadreza ; Karimiani, Ehsan Ghayoor ; Oreshkov, Sergey ; Alves, Cesar ; Striano, Pasquale ; Suri, Mohnish ; Martinez-Agosto, Julian ; Ansar, Muhammad ; Zahid, Muhammad ; Akram, Samra ; Antonarakis, Stylianos E. ; Houlden, Henry ; Copmans, Daniëlle ; Martemyanov, Kirill A. ; Maroofian, Reza
In Genetics in Medicine June 2025
Academic Journal
De Hayr, Lachlan ; Blok, Laura E.R. ; Dias, Kerith-Rae ; Long, Jingyi ; Begemann, Anaïs ; Moir, Robyn D. ; Willis, Ian M. ; Mocera, Martina ; Siegel, Gabriele ; Steindl, Katharina ; Evans, Carey-Anne ; Zhu, Ying ; Zhang, Futao ; Field, Michael ; Ma, Alan ; Adès, Lesley ; Josephi-Taylor, Sarah ; Pfundt, Rolph ; Zaki, Maha S. ; Tomoum, Hoda ; Gregor, Anne ; Laube, Julia ; Reis, André ; Maddirevula, Sateesh ; Hashem, Mais O. ; Zweier, Markus ; Alkuraya, Fowzan S. ; Maroofian, Reza ; Buckley, Michael F. ; Gleeson, Joseph G. ; Zweier, Christiane ; Coll-Tané, Mireia ; Koolen, David A. ; Rauch, Anita ; Roscioli, Tony ; Schenck, Annette ; Harvey, Robert J.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Calame, Daniel G. ; Wong, Jovi Huixin ; Panda, Puravi ; Nguyen, Dat Tuan ; Leong, Nancy C.P. ; Sangermano, Riccardo ; Patankar, Sohil G. ; Abdel-Hamid, Mohamed S. ; AlAbdi, Lama ; Safwat, Sylvia ; Flannery, Kyle P. ; Dardas, Zain ; Fatih, Jawid M. ; Murali, Chaya ; Kannan, Varun ; Lotze, Timothy E. ; Herman, Isabella ; Ammouri, Farah ; Rezich, Brianna ; Efthymiou, Stephanie ; Alavi, Shahryar ; Murphy, David ; Firoozfar, Zahra ; Nasab, Mahya Ebrahimi ; Bahreini, Amir ; Ghasemi, Majid ; Haridy, Nourelhoda A. ; Goldouzi, Hamid Reza ; Eghbal, Fatemeh ; Karimiani, Ehsan Ghayoor ; Begtrup, Amber ; Elloumi, Houda ; Srinivasan, Varunvenkat M. ; Gowda, Vykuntaraju K. ; Du, Haowei ; Jhangiani, Shalini N. ; Coban-Akdemir, Zeynep ; Marafi, Dana ; Rodan, Lance ; Isikay, Sedat ; Rosenfeld, Jill A. ; Ramanathan, Subhadra ; Staton, Michael ; Oberg, Kerby C. ; Clark, Robin D. ; Wenman, Catharina ; Loughlin, Sam ; Saad, Ramy ; Ashraf, Tazeen ; Male, Alison ; Tadros, Shereen ; Boostani, Reza ; Abdel-Salam, Ghada M.H. ; Zaki, Maha ; Mardi, Ali ; Hashemi-Gorji, Farzad ; Abdalla, Ebtesam ; Manzini, M. Chiara ; Pehlivan, Davut ; Posey, Jennifer E. ; Gibbs, Richard A. ; Houlden, Henry ; Alkuraya, Fowzan S. ; Bujakowska, Kinga ; Maroofian, Reza ; Lupski, James R. ; Nguyen, Long N.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Semenova, Svetlana A.; Nammi, Deepthi; Garrett, Grace B.; Margolin, Gennady; Sinclair, Jennifer L.; Maroofian, Reza; Caldecott, Keith W.; Burgess, Harold A.
Academic Journal
Maroofian, Reza ; Pagnamenta, Alistair T. ; Navabazam, Alireza ; Schwessinger, Ron ; Roberts, Hannah E. ; Lopopolo, Maria ; Dehghani, Mohammadreza ; Vahidi Mehrjardi, Mohammad Yahya ; Haerian, Alireza ; Soltanianzadeh, Mojtaba ; Noori Kooshki, Mohammad Hadi ; Knight, Samantha J.L. ; Miller, Kerry A. ; McGowan, Simon J. ; Chatron, Nicolas ; Timberlake, Andrew T. ; Melo, Uirá Souto ; Mundlos, Stefan ; Buck, David ; Twigg, Stephen R.F. ; Taylor, Jenny C. ; Wilkie, Andrew O.M. ; Calpena, Eduardo
In Human Genetics and Genomics Advances 10 October 2024 5(4)
Academic Journal
Iruzubieta, Pablo; Alves, César Augusto Pinheiro Ferreira; Al Shamsi, Aisha M.; ElGhazali, Gehad; Zaki, Maha S.; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P.H.; Jolly, Amy A.; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Çakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schöls, Ludger; Haack, Tobias B.; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R.; Orozco, Lorena; Helmes, Karla García; Babaei, Meisam; Bauer, Peter; Chan Jeong, Won; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G.; Chung, Wendy K.; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S.; Houlden, Henry; Maroofian, Reza
In eBioMedicine September 2024 107
Academic Journal
Mohammadi, Nazanin Azarinejad; Ahring, Philip Kiær; Yu Liao, Vivian Wan; Chua, Han Chow; Ortiz de la Rosa, Sebastián; Johannesen, Katrine Marie; Michaeli-Yossef, Yael; Vincent-Devulder, Aline; Meridda, Catherine; Bruel, Ange-Line; Rossi, Alessandra; Patel, Chirag; Klepper, Joerg; Bonanni, Paolo; Minghetti, Sara; Trivisano, Marina; Specchio, Nicola; Amor, David; Auvin, Stéphane; Baer, Sarah; Meyer, Pierre; Milh, Mathieu; Salpietro, Vincenzo; Maroofian, Reza; Lemke, Johannes R.; Weckhuysen, Sarah; Christophersen, Palle; Rubboli, Guido; Chebib, Mary; Jensen, Anders A.; Absalom, Nathan L.; Møller, Rikke Steensbjerre
In eBioMedicine August 2024 106
Academic Journal
Mendia, Clara; Peineau, Thibault; Zamani, Mina; Felgerolle, Chloé; Yahiaoui, Nawal; Christophersen, Nele; Papal, Samantha; Maudoux, Audrey; Maroofian, Reza; Patni, Pranav; Nouaille, Sylvie; Bowl, Michael R.; Delmaghani, Sedigheh; Galehdari, Hamid; Vona, Barbara; Dulon, Didier; Vitry, Sandrine; El-Amraoui, Aziz
In Molecular Therapy 6 March 2024 32(3):800-817
Academic Journal
Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K.; Calame, Daniel G.; Misra, Vinod K.; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E.; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M.; Emrick, Lisa; Chung, Wendy K.; Hellmich, Ute A.; Schmidts, Miriam; Lupski, James R.; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Hübner, Christian A.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Guillen Sacoto, Maria J.; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S.A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Academic Journal
Bosch, Elisabeth; Popp, Bernt; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Jamra, Rami Abou; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; McGinnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A.R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W.E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, André; Accogli, Andrea; Vasileiou, Georgia
In Genetics in Medicine November 2023 25(11)
Academic Journal
Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza
In Genetics in Medicine November 2023 25(11)
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