부산대학교 도서관

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa

Nature Genetics. :1-14

Torbati, Paria Najarzadeh ; Salehirozveh, Mostafa ; Toosi, Mehran Beiraghi ; Ahangari, Najmeh ; Doosti, Mohammad ; Ashrafzadeh, Farah ; Akhondian, Javad ; Hashemi, Narges ; Safi, Mojtaba ; Hanieh sadat mirzadeh ; Malek, Hadis ; Farsi, Farima ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor

In Pediatric Neurology April 2026 177:68-76

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

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)

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

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 September 2024

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

Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Taylor LS; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom.; Sedighzadeh S; Department of Biological Science, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Dr Shahrooei Laboratory, Tehran 1476693993, Iran.; Moualek D; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova 16147, Italy.; Grba DN; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, United Kingdom.; Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom.; Champion M; Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London SE1 7EH, United Kingdom.; Tavasoli AR; Department of Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran 1419733151, Iran.; Lascelles K; Children's Neuroscience Centre, Evelina London Children's Hospital, Guy's and St Thomas' NHS Trust, London SE1 7EH, United Kingdom.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka 560029, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka 560029, India.; Fateh ST; School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran 1416634793, Iran.; Kordi-Tamandani M; Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan 9816745785, Iran.; Khajeh A; Children and Adolescent Health Research Center, School of Medicine, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan 9816743463, Iran.; Yaghoubi S; Department of Pediatrics, School of Medicine, Children and Adolescents Health Research Center, Research Institute of Cellular and Molecular Science in Infectious Diseases, Zahedan University of Medical Sciences, Zahedan 9816743463, Iran.; Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Science, Bojnourd 9417694735, Iran.; Javadzadeh M; Department of Pediatric Neurology, Shahid Beheshti University of Medical Sciences, Tehran 1983969367, Iran.; Varaghchi JR; Hasti Genetic Counseling Center of Welfare Organization of Southern Khorasan, Birjand 9719866879, Iran.; Miryounesi M; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran 1985717413, Iran.; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran.; Ghayoor Karimiani E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.; Tazir M; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria.; Ali Pacha L; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

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)

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 ; Nejad-Rashidi, 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, Mostafa Zohour ; El Fahime, Elmostafa ; Canavati, Christin ; Kamal, Lara ; Kanaan, Moien ; Askander, Omar ; Voinova, Victoria ; Levchenko, Olga ; Haider, Shahzhad ; Halbach, Sara S. ; Maia, Elias Rayana ; Mansoor, Salehi ; Vivek, Jain ; Tawde, Sanjukta ; Challa, Viveka Santhosh R. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Victor, Lucas Alves ; Pinero-Banos, Benito ; Hague, Jennifer ; Ei-Awady, 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, Eshan Karimiani ; Campeau, Philippe ; Alkuraya, Fowzan S. ; Pagnamenta, Alistair T. ; Gleeson, Joseph ; Lupski, James R. ; Striano, Pasquale ; Moreno-De-Luca, Andres ; Lafontaine, Denis L.J. ; Houlden, Henry ; Maroofian, Reza

In Genetics in Medicine September 2024

Saida, Ken ; Maroofian, Reza ; Sengoku, Toru ; Mitani, Tadahiro ; Pagnamenta, Alistair T. ; Marafi, Dana ; Zaki, Maha S. ; O’Brien, Thomas J. ; Karimiani, Ehsan Ghayoor ; Kaiyrzhanov, Rauan ; Takizawa, Marina ; Ohori, Sachiko ; Leong, Huey Yin ; Akay, Gulsen ; Galehdari, Hamid ; Zamani, Mina ; Romy, Ratna ; Carroll, Christopher J. ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Malek, Hadis ; Ahangari, Najmeh ; Tomoum, Hoda ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Murphy, David ; Dominik, Natalia ; Elbendary, Hasnaa M. ; Rafat, Karima ; Yilmaz, Sanem ; Kanmaz, Seda ; Serin, Mine ; Krishnakumar, Deepa ; Gardham, Alice ; Maw, Anna ; Rao, Tekki Sreenivasa ; Alsubhi, Sarah ; Srour, Myriam ; Buhas, Daniela ; Jewett, Tamison ; Goldberg, Rachel E. ; Shamseldin, Hanan ; Frengen, Eirik ; Misceo, Doriana ; Strømme, Petter ; Magliocco Ceroni, José Ricardo ; Kim, Chong Ae ; Yesil, Gozde ; Sengenc, Esma ; Guler, Serhat ; Hull, Mariam ; Parnes, Mered ; Aktas, Dilek ; Anlar, Banu ; Bayram, Yavuz ; Pehlivan, Davut ; Posey, Jennifer E. ; Alavi, Shahryar ; Madani Manshadi, Seyed Ali ; Alzaidan, Hamad ; Al-Owain, Mohammad ; Alabdi, Lama ; Abdulwahab, Ferdous ; Sekiguchi, Futoshi ; Hamanaka, Kohei ; Fujita, Atsushi ; Uchiyama, Yuri ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Miyake, Noriko ; Elshafie, Reem M. ; Salayev, Kamran ; Guliyeva, Ulviyya ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Monaghan, Kristin G. ; Langley, Katherine G. ; Yang, Hui ; Motavaf, Mahsa ; Safari, Saeid ; Alipour, Mozhgan ; Ogata, Kazuhiro ; Brown, André E.X. ; Lupski, James R. ; Houlden, Henry ; Matsumoto, Naomichi

In Genetics in Medicine January 2023 25(1):90-102

Zemorshidi, Fariba ; Nafissi, Shahriar ; Boostani, Reza ; Karimiani, Ehsan Ghayoor ; Ashtiani, Bahram Haghi ; Karimzadeh, Parvaneh ; Miryounesi, Mohammad ; Tonekaboni, Seyed Hassan ; Nilipour, Yalda

In Neuromuscular Disorders July 2023 33(7):589-595

Biglari S; Farin Genetics Laboratory, Tehran, Iran. S1369b@yahoo.com.; Rezaei H; Department of Genetics, Faculty of Biological Sciences and Technology, Shahid Ashrafi Esfahani University, Isfahan, Iran.; Asadollahzadeh E; Multiple Sclerosis Research Center, Neuroscience Institute, Tehran University of Medical Sciences (TUMS), Tehran, Iran.; Nikuei P; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.; Dr. Nikuei Genetic Center, Bandar Abbas, Iran.; Sahraian MA; Multiple Sclerosis Research Center, Neuroscience Institute, Tehran University of Medical Sciences (TUMS), Tehran, Iran.; Sohanforooshan Moghaddam A; Farin Genetics Laboratory, Tehran, Iran.; Vahidnezhad H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; Youssefian L; Department of Pathology, Cytogenetics Laboratory, City of Hope National Medical Center, Irwindale, CA, USA.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Heydaran S; Department of Biology, Islamic Azad University, Branch Kazerun, Province Fars, Iran.; Parvas S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Shariati G; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Zareei T; Hormozgan University of Medical Science, Bandar Abbas, Iran.; Tabasi S; Student Research Committee, Faculty of Pharmacy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.; Ranjbar S; Student Research Committee, Faculty of Pharmacy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.; Khademi G; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Golmakani H; Pediatric Department, Faculty of Medicine, Mashhad Azad University, Mashhad, Iran.; Hashemi N; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Akhavan H; Pediatric Intensive Care, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Naseri M; Fellowship of Pediatric Intensive Care, Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Donyadideh N; Private Pediatric Neurology Practice, Mashhad, Iran.; Barkhordari E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK.; Beiraghi Toosi M; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Arabi S; Mashhad University of Medical Science, Pediatric Akbar Hospital, Mashhad, Iran.; Heidari N; Sechenov University, Moscow, Russia.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Badpar H; Pharmaceutical Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Saeidinia A; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Bagheri S; Department of Internal Medicine, Faculty of Medicine, Mashhad Medical Science, Islamic Azad University, Mashhad, Iran.; Lotfi M; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Mirsadraee M; Department of Internal Medicine, Faculty of Medicine, Mashhad Medical Science, Islamic Azad University, Mashhad, Iran.; Loghmani T; Department of Pediatrics, Hasheminezhad Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Darabi A; Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Derafshi R; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Behmadi M; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Boskabadi A; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Akhondian S; Student Research Committee, School of Dentistry, Mashhad University of Medical Science, Mashhad, Iran.; Eshraghi P; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Hosseini M; Department of Pediatrics, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran.; Farhat A; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Ghane Sharbaf F; Pediatric Nephrology Department, Dr. Shaikh Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Norooziasl S; Pediatrics Endocrinology, Faculty of Medicine, Mashhad University of Medical Science, Mashhad, Iran.; Ghaemi N; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ahangari N; Innovative Medical Research Centre, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Etemadifar M; Neurology Department, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Moosavian T; Pediatric Neurology Department, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Shervin Badv R; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Sarraf P; Department of Neuromuscular Diseases, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.; Department of Neurology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.; Haghighatzadeh M; Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Ghayoor Karimiani E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE; In Process

Koopmann, Tamara T.; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M.; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G.; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A.; Ruivenkamp, Claudia A. L.; Teunissen, Aalbertine K. K.; Ten Harkel, Arend D. J.; van Duinen, Sjoerd G.; Haak, Monique C.; Prada, Carlos E.; Santen, Gijs W. E.; Maroofian, Reza

European Journal of Human Genetics. 31(1):97-104

Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur ; Riccardi, Florence ; Field, Michael ; Banka, Siddharth ; Bubshait, Dalal K. ; Li, Yun ; Hertecant, Jozef ; Baig, Shahid Mahmood ; Dyment, David ; Efthymiou, Stephanie ; Abdullah, Uzma ; Makhdoom, Ehtisham Ul Haq ; Ali, Zafar ; Scherf de Almeida, Tobias ; Molinari, Florence ; Mignon-Ravix, Cécile ; Chabrol, Brigitte ; Antony, Jayne ; Ades, Lesley ; Pagnamenta, Alistair T. ; Jackson, Adam ; Douzgou, Sofia ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O’Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Beetz, Christian ; Karageorgou, Vasiliki ; Vona, Barbara ; Rad, Aboulfazl ; Baig, Jamshaid Mahmood ; Sultan, Tipu ; Alvi, Javeria Raza ; Maqbool, Shazia ; Rahman, Fatima ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Sarwar, Yasra ; Khan, Sheraz ; Jameel, Muhammad ; Noegel, Angelika A. ; Budde, Birgit ; Altmüller, Janine ; Motameny, Susanne ; Höhne, Wolfgang ; Houlden, Henry ; Nürnberg, Peter ; Wollnik, Bernd ; Villard, Laurent ; Alkuraya, Fowzan Sami ; Osmond, Matthew ; Hussain, Muhammad Sajid ; Yigit, Gökhan

In Genetics in Medicine November 2021 23(11):2138-2149

Lin, Sheng-Jia ; Vona, Barbara ; Barbalho, Patricia G. ; Kaiyrzhanov, Rauan ; Maroofian, Reza ; Petree, Cassidy ; Severino, Mariasavina ; Stanley, Valentina ; Varshney, Pratishtha ; Bahena, Paulina ; Alzahrani, Fatema ; Alhashem, Amal ; Pagnamenta, Alistair T. ; Aubertin, Gudrun ; Estrada-Veras, Juvianee I. ; Hernández, Héctor Adrián Díaz ; Mazaheri, Neda ; Oza, Andrea ; Thies, Jenny ; Renaud, Deborah L. ; Dugad, Sanmati ; McEvoy, Jennifer ; Sultan, Tipu ; Pais, Lynn S. ; Tabarki, Brahim ; Villalobos-Ramirez, Daniel ; Rad, Aboulfazl ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O‘Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Galehdari, Hamid ; Ashrafzadeh, Farah ; Sahebzamani, Afsaneh ; Saeidi, Kolsoum ; Torti, Erin ; Elloumi, Houda Z. ; Mora, Sara ; Palculict, Timothy B. ; Yang, Hui ; Wren, Jonathan D. ; Ben Fowler ; Joshi, Manali ; Behra, Martine ; Burgess, Shawn M. ; Nath, Swapan K. ; Hanna, Michael G. ; Kenna, Margaret ; Merritt, J. Lawrence, II ; Houlden, Henry ; Karimiani, Ehsan Ghayoor ; Zaki, Maha S. ; Haaf, Thomas ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Varshney, Gaurav K.

In Genetics in Medicine October 2021 23(10):1933-1943

Tremblay-Laganière, Camille ; Maroofian, Reza ; Nguyen, Thi Tuyet Mai ; Karimiani, Ehsan Ghayoor ; Kirmani, Salman ; Akbar, Fizza ; Ibrahim, Shahnaz ; Afroze, Bushra ; Doosti, Mohammad ; Ashrafzadeh, Farah ; Babaei, Meisam ; Efthymiou, Stephanie ; Christoforou, Marilena ; Sultan, Tipu ; Ladda, Roger L. ; McLaughlin, Heather M. ; Truty, Rebecca ; Mahida, Sonal ; Cohen, Julie S. ; Baranano, Kristin ; Ismail, Fatima Y. ; Patel, Millan S. ; Lehman, Anna ; Edmondson, Andrew C. ; Nagy, Amanda ; Walker, Melissa A. ; Mercimek-Andrews, Saadet ; Maki, Yuta ; Sachdev, Rani ; Macintosh, Rebecca ; Palmer, Elizabeth E. ; Mancini, Grazia M.S. ; Barakat, Tahsin Stefan ; Steinfeld, Robert ; Rüsch, Christina T. ; Stettner, Georg M. ; Wagner, Matias ; Wortmann, Saskia B. ; Kini, Usha ; Brady, Angela F. ; Stals, Karen L. ; Ismayilova, Naila ; Ellard, Sian ; Bernardo, Danilo ; Nugent, Kimberly ; McLean, Scott D. ; Antonarakis, Stylianos E. ; Houlden, Henry ; Kinoshita, Taroh ; Campeau, Philippe M. ; Murakami, Yoshiko

In Genetics in Medicine October 2021 23(10):1873-1881

Keller, Natalie ; Mendoza-Ferreira, Natalia ; Maroofian, Reza ; Chelban, Viorica ; Khalil, Youssef ; Mills, Philippa B. ; Boostani, Reza ; Torbati, Paria Najarzadeh ; Karimiani, Ehsan Ghayoor ; Thiele, Holger ; Houlden, Henry ; Wirth, Brunhilde ; Karakaya, Mert

In Neuromuscular Disorders July 2020 30(7):583-589

Dominik N; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Record CJ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Miao X; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Lin RQ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Parmar JM; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Scardamaglia A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lowe SA; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Aughey GN; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Wilson AD; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Curro R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Schnekenberg RP; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Alavi S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Leclaire L; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; He Y; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Bellaïche Y; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.; Gaugué I; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.; Skorupinska M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Turchetti V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Güngör S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey.; Monahan GV; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Ghayoor Karimiani E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Jamshidi Y; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Lamont PJ; Royal Perth Hospital, Perth, Western Australia, Australia.; Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.; Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.; Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.; Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.; Marques W; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.; Aynekin B; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.; Cansu A; Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey.; Per H; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.; Güleç A; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.; Alvi JR; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.; Sultan T; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.; Khan A; Neuropedia Children's Neuroscience Center, Dubai, United Arab Emirates.; Fakeeh University Hospital, Dubai, United Arab Emirates.; Kids Neuro Clinic, Dubai, United Arab Emirates.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Ibrahim S; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.; Mancini GMS; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Brusse E; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Lupo V; Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Sevilla T; Hospital Universitari i Politècnic La Fe & IIS La Fe, Neuromuscular Diseases Unit, Department of Neurology, Valencia, Spain.; Universitat de València, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Başak AN; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Tekgul S; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Palvadeau RJ; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Baets J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Parman Y; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Çakar A; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Haack TB; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Stahl JH; Department of Epileptology, Center of Neurology, and.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Grundmann-Hauser K; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Park J; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Zuchner S; John P. Hussman Institute for Human Genomics and.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.; Laing NG; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Wilson LA; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Polke J; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom.; Figueiredo FB; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.; Pessoa A; Universidade Federal Do Ceara - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Kok F; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.; Coimbra-Neto AR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Department of Neurology, School of Medicine, Centro Universitário Uninovafapi - UNINOVAFAPI, Teresina, Piauí, Brazil.; Franca MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Ravenscroft G; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Hamed SA; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University, Assiut, Egypt.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Pittman AM; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Osborn DP; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Hanna M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Jepson JE; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lamarche-Vane N; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Ghosh S; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Singh J; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Damseh NS; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; De Pace R; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Golding AE; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Jarnik M; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Thakran P; National Heart Lung and Blood Institute, National Institute of Health, Bethesda, MD 20892, USA.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Heitz J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; AlAbdi L; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Abdulwahab F; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Sumayli S; Department of Medicine, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.; Alqahtani M; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Cheema HA; Department of Paediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad 38000, Pakistan.; Kim J; Division of Medical Genetics, 3billion, Inc, Seoul 06160, South Korea.; Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.; Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Mochida GH; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston 02115, MA, USA.; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.; Zifarelli G; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Barkhordari E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Ghayoor Karimiani E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Abu-Libdeh B; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Edvardson S; Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Patten SA; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Departement de Neurosciences, Université de Montréal, QC H3C 3J7, Canada.; Bonifacino JS; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE