未登录 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
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies Al-Amri, Ahmed H.; Armstrong, Paul; Amici, Mascia; Ligneul, Clemence; Rouse, James; El-Asrag, Mohammed E.; Pantiru, Andreea; Vancollie, Valerie E.; Ng, Hannah W. Y.; Ogbeta, Jennifer A.; Goodchild, Kirstie; Ellegood, Jacob; Lelliott, Christopher J.; Mullins, Jonathan G. L.; Bretman, Amanda; Al-Ali, Ruslan; Beetz, Christian; Al-Gazali, Lihadh; Al Shamsi, Aisha; Lerch, Jason P.; Mellor, Jack R.; Al Sayegh, Abeer; Ali, Manir; Inglehearn, Chris F.; Clapcote, Steven J. 分享 收藏
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 分享 收藏
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018) Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Salazar, Tracy D.; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmuller, Janine; Weixler, Lisa; Nurnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G. 分享 收藏
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders Bertoli-Avella, Aida M.; Kandaswamy, Krishna K.; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patricia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A.; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N.; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S.; Huning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S.; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M.; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter 分享 收藏
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features Shao, Diane D.; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R. Sean; Smith, Richard S.; Majmundar, Amar J.; Ameziane, Najim; Neil, Jennifer E.; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S.; Schlaeger, Thorsten M.; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z.; Rento, Lariza M.; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A. James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A. 分享 收藏
Life-threatening arrhythmias with autosomal recessive TECRL variants Webster, Gregory; Aburawi, Elhadi H.; Chaix, Marie A.; Chandler, Stephanie; Foo, Roger; Islam, A. K. M. Monwarul; Kammeraad, Janneke A. E.; Rioux, John D.; Al-Gazali, Lihadh; Sayeed, Md Zahidus; Xiao, Tingting; Zhang, Han; Xie, Lijian; Hou, Cuilan; Ing, Alexander; Yap, Kai Lee; Wilde, Arthur A. M.; Bhuiyan, Zahurul A. 分享 收藏
Life-threatening Arrhythmias With Autosomal Recessive TECRL Variants Webster, Gregory; Aburawi, Elhadi H.; Chaix, Marie; Chandler, Stephanie; Foo, Roger; Islam, A. K. M. Monwarul; Kammeraad, Janneke A.; Rioux, John D.; Al-Gazali, Lihadh; Sayeed, Md. Zahidus; Xiao, Tingting; Zhang, Han; Xie, Lijian; Hou, Cuilan; Wilde, Arthur A.; Bhuiyan, Zahurul A. 分享 收藏
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots Conte, Federica; Morava, Eva; Abu Bakar, Nurulamin; Wortmann, Saskia B.; Poerink, Anne Jonge; Grunewald, Stephanie; Crushell, Ellen; Al-Gazali, Lihadh; de Vries, Maaike C.; Morkrid, Lars; Hertecant, Jozef; Holmefjord, Katja S. Brocke; Kronn, David; Feigenbaum, Annette; Fingerhut, Ralph; Wong, Sunnie Y.; van Scherpenzeel, Monique; Voermans, Nicol C.; Lefeber, Dirk J. 分享 收藏
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival Coulter, Michael E.; Musaev, Damir; DeGennaro, Ellen M.; Zhang, Xiaochang; Henke, Katrin; James, Kiely N.; Smith, Richard S.; Hill, R. Sean; Partlow, Jennifer N.; Muna Al-Saffar; Kamumbu, A. Stacy; Hatem, Nicole; Barkovich, A. James; Aziza, Jacqueline; Chassaing, Nicolas; Zaki, Maha S.; Sultan, Tipu; Burglen, Lydie; Rajab, Anna; Al-Gazali, Lihadh; Mochida, Ganeshwaran H.; Harris, Matthew P.; Gleeson, Joseph G.; Walsh, Christopher A. 分享 收藏
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (vol 13, 22, 2020) Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M.; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J.; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A.; Banka, Siddharth 分享 收藏
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M.; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J.; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A.; Banka, Siddharth 分享 收藏
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (vol 21, pg 2755, 2019) Blackburn, Alexandria T. M.; Bekheirnia, Nasim; Uma, Vanessa C.; Corkins, Mark E.; Xu, Yuxiao; Rosenfeld, Jill A.; Bainbridge, Matthew N.; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R.; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G.; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed Saeed Mohamed; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M.; Scheuerle, Angela E.; Kukolich, Mary K.; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C.; Lamb, Dolores J.; Miller, Rachel K.; Bekheirnia, Mir Reza 分享 收藏
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract Blackburn, Alexandria T. M.; Bekheirnia, Nasim; Uma, Vanessa C.; Corkins, Mark E.; Xu, Yuxiao; Rosenfeld, Jill A.; Bainbridge, Matthew N.; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R.; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G.; Al Gazali, Lihadh; Al Shamsi, Aisha Mohamed Saeed Mohamed; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M.; Scheuerle, Angela E.; Kukolich, Mary K.; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C.; Lamb, Dolores J.; Miller, Rachel K.; Bekheirnia, Mir Reza 分享 收藏
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice (vol 7, e1002114, 2011) Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K.; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; Branney, Peter; Fisher, Malcolm; Morrison, Harris; Bicknell, Louise; Gautier, Philippe; Perry, Paul; Sokhi, Kishan; Sexton, David; Bardakjian, Tanya M.; Schneider, Adele S.; Elcioglu, Nursel; Ozkinay, Ferda; Koenig, Rainer; Megarbane, Andre; Semerci, C. Nur; Khan, Ayesha; Zafar, Saemah; Hennekam, Raoul; Sousa, Sergio B.; Ramos, Lina; Garavelli, Livia; Furga, Andrea Superti; Wischmeijer, Anita; Jackson, Ian J.; Gillessen-Kaesbach, Gabriele; Brunner, Han G.; Wieczorek, Dagmar; van Bokhoven, Hans; FitzPatrick, David R. 分享 收藏
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function PPP1R21中功能变体的双等位基因丢失导致神经发育综合征，内吞功能受损 Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al-Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; Wu, Kaman; Al-Jasmi, Fatma; Helmstaedter, Martin; Arnold, Sebastian J.; Xia, Fan; Richmond, Christopher; Liu, Pengfei; Karimiani, Ehsan Ghayoor; Madani, GholamReza Karami; Lunke, Sebastian; El-Shanti, Hatem; Eng, Christine M.; Antonarakis, Stylianos E.; Hertecant, Jozef; Walkiewicz, Magdalena; Yang, Yaping; Schmidts, Miriam 分享 收藏
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018) Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Dixon-Salazar, Tracy; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G. 分享 收藏
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Bellacchio, Emanuele; Arboleda-Bustos, Carlos E.; Carrero, Dido; Bertola, Debora; Al-Gazali, Lihadh; Alders, Mariel; Altmueller, Janine; Arboleda, Gonzalo; Beleggia, Filippo; Bruselles, Alessandro; Ciolfi, Andrea; Gillessen-Kaesbach, Gabriele; Krieg, Thomas; Mohammed, Shehla; Mueller, Christian; Noyelli, Antonio; Ortega, Jenny; Sandoval, Adrian; Velasco, Gloria; Yigit, Goekhan; Arboleda, Humberto; Lopez-Otin, Carlos; Wollnik, Bernd; Tartaglia, Marco; Hennekam, Raoul C. 分享 收藏
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Salazar, Tracy D.; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G. 分享 收藏
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