未登录 Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder 在自闭症谱系障碍患者中鉴定的单等位基因和双等位基因KDM5A变异 El Hayek, Lauretta; Gogate, Ashlesha; Chen, Wei-Chen; Kaur, Kiran; Zaki, Maha S.; De Wachter, Matthias; Van Schil, Kristof; Dublin-Ryan, Leeran; Zamani, Mina; Bartos, Meghan N.; Hiatt, Susan M.; Courdier, Cecile; Michaud, Vincent; Kenny, Janna; Day, Michael; Pang, Lewis; Nasab, Mahya Ebrahimi; Manshadi, Seyed Ali Madani; Eslahi, Atieh; Rasoul, Masoomeh Ale; Sanchez-Mendoza, Eduardo Humberto; DeLuca, Charles; Marafi, Dana; Stevens, Servi J. C.; Ivanovski, Ivan; Frey, Tanja; Steindl, Katharina; Rauch, Anita; O'Connor, Kaitlyn; Velinov, Milen; Shen, Xiaoming; Janssen, Etienne J. M.; Sedighzadeh, Sahar; Kordi-Tamandani, Dor Mohammad; Khajeh, Ali; Elshafie, Reem M.; Bastaki, Laila; Misra, Vinod K.; Firoozfar, Zahra; Goldenberg, Paula C.; Toosi, Mehran Beiraghi; Mojarrad, Majid; Kavanagh, Karl; Koboldt, Daniel C.; Margot, Henri; Hurst, Anna C. E.; Weber, Axel; Bergmann, Carsten; Houlden, Henry; Maroofian, Reza; Weis, Denisa; Ceulemans, Berten; Chahrour, Maria H. 分享 收藏
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation 双等位UGGT1变异导致先天性糖基化障碍 Dardas, Z; Harrold, L; Calame, DG; Salter, CG; Kikuma, T; Guay, KP; Ng, BG; Sano, K; Saad, AK; Du, HW; Sangermano, R; Patankar, SG; Jhangiani, SN; Gürsoy, S; Abdel-Hamid, MS; Ahmed, MKH; Maroofian, R; Kaiyrzhanov, R; Salayev, K; Jones, WD; Caballero, AP; McGavin, L; Spiller, M; Durkie, M; Wood, N; O'Grady, L; Goldenberg, P; Neumeyer, AM; Begtrup, A; Abdel-Ghafar, SF; Zaki, MS; Van Esch, H; Posey, JE; Wenger, OK; Scott, EM; Bujakowska, KM; Gibbs, RA; Pehlivan, D; Marafi, D; Leslie, JS; Ubeyratna, N; Day, J; Owens, M; Settle, J; Balkhy, S; Tamim, A; Alabdi, L; Alkuraya, FS; Takeda, Y; Freeze, HH; Hebert, DN; Lupski, JR; Crosby, AH; Baple, EL 分享 收藏
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia Barish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurelien; Waberski, Marta Biderman; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Oystein L.; Busk, Oyvind L.; Houlden, Henry; Karimiani, Ehsan Ghayoor; Toosi, Mehran Beiraghi; Badv, Reza Shervin; Torbati, Paria Najarzadeh; Eghbal, Fatemeh; Akhondian, Javad; Al Safar, Ayat; Alswaid, Abdulrahman; Zifarelli, Giovanni; Bauer, Peter; Marafi, Dana; Fatih, Jawid M.; Huang, Kevin; Petree, Cassidy; Calame, Daniel G.; von der Lippe, Charlotte; Alkuraya, Fowzan S.; Wali, Sami; Lupski, James R.; Varshney, Gaurav K.; Posey, Jennifer E.; Pehlivan, Davut 分享 收藏
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32 Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M.; El-Rashidy, Omnia F.; Grochowski, Christopher M.; Carvalho, Claudia M. B.; Jhangiani, Shalini N.; Bi, Weimin; Du, Haowei; Gibbs, Richard A.; Posey, Jennifer E.; Calame, Daniel G.; Zaki, Maha S.; Lupski, James R. 分享 收藏
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Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder Alzayed, Nada T.; Alzuabi, Abdullah H.; Alqusaimi, Reem A.; El-Anany, Ehab A.; Alholle, Abdullah; Aboelanine, Ashraf H.; Omar, Sherief; Alsafi, Rasha; Elmonairy, Alaa A.; Alali, Fatemah J.; Alahmad, Ahmad; Alsharhan, Hind; Albash, Buthaina; Marafi, Dana 分享 收藏
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data Du, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M.; Jhangiani, Shalini N.; Li, He; Muzny, Donna; Fatih, Jawid M.; Yesil, Gozde; Elcioglu, Nursel H.; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R. 分享 收藏
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants 生物素-硫胺素反应性基底神经节病: 对科威特具有新变异的病例的临床，放射学和分子发现的回顾性回顾 Aburezq, Maryam; Alahmad, Ahmad; Alsafi, Rasha; Al-Tawari, Asma; Ramadan, Dina; Shafik, Magdy; Abdelaty, Omar; Makhseed, Nawal; Elshafie, Reem; Ayed, Mariam; Hayat, Abrar; Dashti, Fatima; Marafi, Dana; Albash, Buthaina; Bastaki, Laila; Alsharhan, Hind 分享 收藏
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features 蛋白磷酸酶1调节亚基3F (PPP1R3F) 的半合子变体与以发育迟缓，智力障碍和自闭症特征为特征的神经发育障碍有关 Liu, Zhigang; Xin, Baozhong; Smith, Iris N.; Sency, Valerie; Szekely, Julia; Alkelai, Anna; Shuldiner, Alan; Efthymiou, Stephanie; Rajabi, Farrah; Coury, Stephanie; Brownstein, Catherine A.; Rudnik-Schoeneborn, Sabine; Bruel, Ange-Line; Thevenon, Julien; Zeidler, Shimriet; Jayakar, Parul; Schmidt, Axel; Cremer, Kirsten; Engels, Hartmut; Peters, Sophia O.; Zaki, Maha S.; Duan, Ruizhi; Zhu, Changlian; Xu, Yiran; Gao, Chao; Sepulveda-Morales, Tania; Maroofian, Reza; Alkhawaja, Issam A.; Khawaja, Mariam; Alhalasah, Hunaida; Houlden, Henry; Madden, Jill A.; Turchetti, Valentina; Marafi, Dana; Agrawal, Pankaj B.; Schatz, Ulrich; Rotenberg, Ari; Rotenberg, Joshua; Mancini, Grazia M. S.; Bakhtiari, Somayeh; Kruer, Michael; Thiffault, Isabelle; Hirsch, Steffen; Hempel, Maja; Stuehn, Lara G.; Haack, Tobias B.; Posey, Jennifer E.; Lupski, James R.; Lee, Hyunpil; Sarn, Nicholas B.; Eng, Charis; Gonzaga-Jauregui, Claudia; Zhang, Bin; Wang, Heng 分享 收藏
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill, V; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K. G.; Thiffault, Sophie Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Ostergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R. 分享 收藏
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders 双等位基因MED27变体导致运动障碍的可变脑-小脑-变性 Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina 分享 收藏
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage Lecca, Mauro; Pehlivan, Davut; Suner, Damia Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contro, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, Maria Angeles; Bauza, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anais; Unger, Sheila; Gungor, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmueller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R.; Errichiello, Edoardo 分享 收藏
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes SMPD4调节有丝分裂核膜动力学及其损失导致小头畸形和糖尿病 Smits, Daphne J.; Schot, Rachel; Krusy, Nathalie; Wiegmann, Katja; Utermoehlen, Olaf; Mulder, Monique T.; den Hoedt, Sandra; Yoon, Grace; Deshwar, Ashish R.; Kresge, Christina; Pletcher, Beth; van Mook, Maura; Ferreira, Marta Serio; Poot, Raymond A.; Slotman, Johan A.; Kremers, Gert-Jan; Ahmad, Abeer; Albash, Buthaina; Bastaki, Laila; Marafi, Dana; Dekker, Jordy; van Ham, Tjakko J.; Nguyen, Laurent; Mancini, Grazia M. S. 分享 收藏
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals Saida, Ken; Marootain, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O'Brian, 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; Stromme, Petter; Ceroni, Jose Ricardo Magliocco; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alayi, Shahryar; Manshadi, Seyed Ali Madani; 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, Andre E. X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi 分享 收藏
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions Hijazi, Hadia; Reis, Linda M.; Pehlivan, Davut; Bernstein, Jonathan A.; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A.; Gan-Or, Ziv; Rouleau, Guy A.; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnes; Bonneau, Dominique; van Jaarsveld, R. H.; Lachmeijer, A. M. A.; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Magorzata; Kepczynski, Lukasz; Poatynska, Katarzyna; Li, Yidan; Fatih, Jawid M.; Marafi, Dana; Rosenfeld, Jill A.; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A.; Hobson, Grace M.; Hunter, Jill V.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Semina, Elena V.; Lupski, James R. 分享 收藏
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode Marafi, Dana; Kozar, Nina; Duan, Ruizhi; Bradley, Stephen; Yokochi, Kenji; Al Mutairi, Fuad; Saadi, Nebal Waill; Whalen, Sandra; Brunet, Theresa; Kotzaeridou, Urania; Choukair, Daniela; Keren, Boris; Nava, Caroline; Kato, Mitsuhiro; Arai, Hiroshi; Froukh, Tawfiq; Faqeih, Eissa Ali; AlAsmari, Ali M.; Saleh, Mohammed M.; Vairo, Filippo Pinto E.; Pichurin, Pavel N.; Klee, Eric W.; Schmitz, Christopher T.; Grochowski, Christopher M.; Mitani, Tadahiro; Herman, Isabella; Calame, Daniel G.; Fatih, Jawid M.; Du, Haowei; Coban-Akdemir, Zeynep; Pehlivan, Davut; Jhangiani, Shalini N.; Gibbs, Richard A.; Miyatake, Satoko; Matsumoto, Naomichi; Wagstaff, Laura J.; Posey, Jennifer E.; Lupski, James R.; Meijer, Dies; Wagner, Matias 分享 收藏
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban-Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R. 分享 收藏
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