未登录 Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Thomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G. 分享 收藏
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications n末端乙酰化能力受损的双等位基因NAA60变体导致常染色体隐性遗传原发性家族性脑钙化 Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry 分享 收藏
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A founder DBR1 variant causes a lethal form of congenital ichthyosis Shamseldin, Hanan E.; Sadagopan, Mukunth; Martini, Javier; Al-Ali, Ruslan; Radefeldt, Mandy; Ataei, Mojgan; Lemke, Sabrina; Rahbeeni, Zuhair; Al Mutairi, Fuad; Ababneh, Faroug; Alrukban, Hadeel A.; Abdulwahab, Firdous; Alhajj, Saleh Mohammed; Bauer, Peter; Bertoli-Avella, Aida; Alkuraya, Fowzan S. 分享 收藏
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families Alabdi, Lama; Maddirevula, Sateesh; Shamseldin, Hanan E.; Khouj, Ebtissal; Helaby, Rana; Hamid, Halima; Almulhim, Aisha; Hashem, Mais O.; Abdulwahab, Firdous; Abouyousef, Omar; Alqahtani, Mashael; Altuwaijri, Norah; Jaafar, Amal; Alshidi, Tarfa; Alzahrani, Fatema; Alkuraya, Fowzan S. 分享 收藏
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission Fasham, James; Huebner, Antje K.; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B.; Leslie, Joseph S.; Ubeyratna, Nishanka; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B.; Shamseldin, Hanan E.; Gleeson, Joseph G.; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S.; Wakeling, Matthew N.; McGavin, Lucy; Turnpenny, Peter D.; Alkuraya, Fowzan S.; Houlden, Henry; Schlattmann, Peter; Kaila, Kai; Crosby, Andrew H.; Baple, Emma L.; Huebner, Christian A. 分享 收藏
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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis Shamseldin, Hanan E.; Derar, Nada; Alzaidan, Hamad; AlHathal, Naif; Alfalah, Abdullah; Abdulwahab, Firdous; Alzaid, Tariq; Alkeraye, Salim; Alobaida, Saud A.; Alkuraya, Fowzan 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
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder Broly, Martin; Polevoda, Bogdan, V; Awayda, Kamel M.; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; Alkuraya, Fowzan S.; Leon, Alberta; van Loon, Rosa L. E.; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Lim, Sze Chern; Pais, Lynn S.; Brown, Natasha; Riazuddin, Saima; Bezieau, Stephane; Fu, Dragony; Isidor, Bertrand; Cogne, Benjamin; O'Connell, Mitchell R. 分享 收藏
The morbid genome of ciliopathies: an update (vol 22, pg 1051, 2021) Shamseldin, Hanan E.; Shaheen, Ranad; Ewida, Nour; Bubshait, Dalal K.; Alkuraya, Hisham; Almardawi, Elham; Howaidi, Ali; Sabr, Yasser; Abdalla, Ebtesam M.; Alfaifi, Abdullah Y.; Alghamdi, Jameel Mohammed; Alsagheir, Afaf; Alfares, Ahmed; Morsy, Heba; Hussein, Maged H.; Al-Muhaizea, Mohammad A.; Shagrani, Mohammad; Al Sabban, Essam; Salih, Mustafa A.; Meriki, Neama; Khan, Rubina; Almugbel, Maisoon; Qari, Alya; Tulba, Maha; Mahnashi, Mohammed; Alhazmi, Khalid; Alsalamah, Abrar K.; Nowilaty, Sawsan R.; Alhashem, Amal; Hashem, Mais; Abdulwahab, Firdous; Ibrahim, Niema; Alshidi, Tarfa; AlObeid, Eman; Alenazi, Mona M.; Alzaidan, Hamad; Rahbeeni, Zuhair; Al-Owain, Mohammed; Sogaty, Sameera; Seidahmed, Mohammed Zain; Alkuraya, Fowzan S. 分享 收藏
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (vol 144, pg 1422, 2021) Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair T.; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozguer; Dundar, Nihal Olgac; Uyanik, Goekhan; Schoels, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Catala-Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuechner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan 分享 收藏
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia HPDL中的双等位基因变体导致纯的和复杂的遗传性痉挛性截瘫 Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan 分享 收藏
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches Klambt, Verena; Mao, Youying; Schneider, Ronen; Buerger, Florian; Shamseldin, Hanan; Onuchic-Whitford, Ana C.; Deutsch, Konstantin; Kitzler, Thomas M.; Nakayama, Makiko; Majmundar, Amar J.; Mann, Nina; Hugo, Hannah; Widmeier, Eugen; Tan, Weizhen; Rehm, Heidi L.; Mane, Shrikant; Lifton, Richard P.; Alkuraya, Fowzan S.; Shril, Shirlee; Hildebrandt, Friedhelm 分享 收藏
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics Maddirevula, Sateesh; Kuwahara, Hiroyuki; Ewida, Nour; Shamseldin, Hanan E.; Patel, Nisha; Alzahrani, Fatema; AlSheddi, Tarfa; AlObeid, Eman; Alenazi, Mona; Alsaif, Hessa S.; Alqahtani, Maha; AlAli, Maha; Al Ali, Hatoon; Helaby, Rana; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Hanna, Nadine; Monies, Dorota; Derar, Nada; Alsagheir, Afaf; Alhashem, Amal; Alsaleem, Badr; Alhebbi, Hamoud; Wali, Sami; Umarov, Ramzan; Gao, Xin; Alkuraya, Fowzan 分享 收藏
The morbid genome of ciliopathies: an update Shamseldin, Hanan E.; Shaheen, Ranad; Ewida, Nour; Bubshait, Dalal K.; Alkuraya, Hisham; Almardawi, Elham; Howaidi, Ali; Sabr, Yasser; Abdalla, Ebtesam M.; Alfaifi, Abdullah Y.; Alghamdi, Jameel Mohammed; Alsagheir, Afaf; Alfares, Ahmed; Morsy, Heba; Hussein, Maged H.; Al-Muhaizea, Mohammad A.; Shagrani, Mohammad; Al Sabban, Essam; Salih, Mustafa A.; Meriki, Neama; Khan, Rubina; Almugbel, Maisoon; Qari, Alya; Tulba, Maha; Mahnashi, Mohammed; Alhazmi, Khalid; Alsalamah, Abrar K.; Nowilaty, Sawsan R.; Alhashem, Amal; Hashem, Mais; Abdulwahab, Firdous; Ibrahim, Niema; Alshidi, Tarfa; AlObeid, Eman; Alenazi, Mona M.; Alzaidan, Hamad; Rahbeeni, Zuhair; Al-Owain, Mohammed; Sogaty, Sameera; Seidahmed, Mohammed Zain; Alkuraya, Fowzan S. 分享 收藏
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia Shamseldin, Hanan E.; Al Mogarri, Ibrahim; Alqwaiee, Mansour M.; Alharbi, Adel S.; Baqais, Khaled; AlSaadi, Muslim; AlAnzi, Talal; Alhashem, Amal; Saghier, Afaf; Ameen, Waleed; Ibrahim, Niema; Yang, Jason; Abdulwahab, Firdous; Hashem, Mais; Chivukula, Raghu R.; Alkuraya, Fowzan S. 分享 收藏
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans Shaheen, Ranad; Alsahli, Saud; Ewida, Nour; Alzahrani, Fatema; Shamseldin, Hanan E.; Patel, Nisha; Al Qahtani, Awad; Alhebbi, Homoud; Alhashem, Amal; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Abouelhoda, Mohamed; Monies, Dorota; Al-Hussaini, Abdulrahman; Alzouman, Muneerah A.; Shagrani, Mohammad; Faqeih, Eissa; Alkuraya, Fowzan S. 分享 收藏
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