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Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients Baird, Daniel A.; Mubeen, Hira; Doganli, Canan; Miltenburg, Jasmijn B.; Thomsen, Oskar Kaaber; Ali, Zafar; Naveed, Tahir; Rehman, Asif ur; Baig, Shahid Mahmood; Christensen, Soren Tvorup; Farooq, Muhammad; Larsen, Lars Allan 分享 收藏
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects Werren, Elizabeth A.; Bey, Guillermo Rodriguez; Majethia, Purvi; Kaur, Parneet; Patil, Siddaramappa J.; Kekatpure, Minal, V; Afenjar, Alexandra; Qebibo, Leila; Burglen, Lydie; Tomoum, Hoda; Demurger, Florence; Duborg, Christele; Siddiqui, Shahyan; Tsan, Yao-Chang; Abdullah, Uzma; Ali, Zafar; Saadi, Saadia Maryam; Baig, Shahid Mahmood; Houlden, Henry; Maroofian, Reza; Padiath, Quasar Saleem; Bielas, Stephanie L.; Shukla, Anju 分享 收藏
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia ZFTRAF1的双等位基因功能丧失变体导致小头畸形和肌张力低下的神经发育障碍 Asif, Maria; Khayyat, Arwa Ishaq A.; Alawbathani, Salem; Abdullah, Uzma; Sanner, Anne; Georgomanolis, Theodoros; Haasters, Judith; Becker, Kerstin; Budde, Birgit; Becker, Christian; Thiele, Holger; Baig, Shahid M.; Isidoro-Garcia, Maria; Winter, Dominic; Pogoda, Hans -Martin; Muhammad, Sajjad; Hammerschmidt, Matthias; Kraft, Florian; Kurth, Ingo; Martin, Hilario Gomez; Wagner, Matias; Nuernberg, Peter; Hussain, Muhammad Sajid 分享 收藏
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia Kaiyrzhanov, Rauan; Ortigoza-Escobar, Juan Dario; Stringer, Brett W.; Ganieva, Manizha; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Macaya, Alfons; Laner, Andreas; Onbool, Enas; Al-Shammari, Randa; Al-Owain, Mohammed; Deconinck, Nicolas; Vilain, Catheline; Dontaine, Pauline; Self, Eleanor; Akram, Rabia; Hussain, Ghulam; Baig, Shahid Mahmood; Iqbal, Javed; Salpietro, Vincenzo; Neshatdoust, Maedeh; Kasiri, Mahboubeh; Yesil, Gozde; Uygur, Turkan; Pysden, Karen; Berry, Ian R.; Alves, Cesar Augusto; Giacomotto, Jean; Houlden, Henry; Maroofian, Reza 分享 收藏
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans Ahmad, Ilyas; Lokau, Juliane; Kespohl, Birte; Malik, Naveed Altaf; Baig, Shahid Mahmood; Hartig, Roland; Behme, Daniel; Schwab, Roland; Altmueller, Janine; Jameel, Muhammad; Mucha, Soeren; Thiele, Holger; Tariq, Muhammad; Nuernberg, Peter; Erdmann, Jeanette; Garbers, Christoph 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
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (vol 108, pg 739, 2021) Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-Lopez, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M.; Klar, Joakim; Dahl, Niklas 分享 收藏
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Iqbal, Maria; Maroofian, Reza; Cavdarli, Busranur; 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; de Almeida, Tobias Scherf; Molinari, Florence; Mignon-Ravix, Cecile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T.; Jackson, Adam; Douzgou, Sofia; 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; Altmueller, Janine; Motameny, Susanne; Hoehne, Wolfgang; Houlden, Henry; Nuernberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gokhan 分享 收藏
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss Ullah, Farid; Rauf, Waqar; Khan, Kamal; Khan, Sheraz; Bell, Katrina M.; de Oliveira, Vanessa Cristina; Tariq, Muhammad; Bakhshalizadeh, Shabnam; Touraine, Philippe; Katsanis, Nicholas; Sinclair, Andrew; He, Sijie; Tucker, Elena J.; Baig, Shahid M.; Davis, Erica E. 分享 收藏
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-Lopez, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M.; Klar, Joakim; Dahl, Niklas 分享 收藏
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis Farooq, Muhammad; Lindbaek, Louise; Krogh, Nicolai; Doganli, Canan; Keller, Cecilie; Monnich, Maren; Goncalves, Andre Bras; Sakthivel, Srinivasan; Mang, Yuan; Fatima, Ambrin; Andersen, Vivi Sogaard; Hussain, Muhammad S.; Eiberg, Hans; Hansen, Lars; Kjaer, Klaus Wilbrandt; Gopalakrishnan, Jay; Pedersen, Lotte Bang; Mollgard, Kjeld; Nielsen, Henrik; Baig, Shahid M.; Tommerup, Niels; Christensen, Soren Tvorup; Larsen, Lars Allan 分享 收藏
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy Lee, Yu-Ri; Khan, Kamal; Armfield-Uhas, Kim; Srikanth, Sujata; Thompson, Nicola A.; Pardo, Mercedes; Yu, Lu; Norris, Joy W.; Peng, Yunhui; Gripp, Karen W.; Aleck, Kirk A.; Li, Chumei; Spence, Ed; Choi, Tae-Ik; Kwon, Soo Jeong; Park, Hee-Moon; Yu, Daseuli; Heo, Won; Mooney, Marie R.; Baig, Shahid M.; Wentzensen, Ingrid M.; Telegrafi, Aida; McWalter, Kirsty; Moreland, Trevor; Roadhouse, Chelsea; Ramsey, Keri; Lyons, Michael J.; Skinner, Cindy; Alexov, Emil; Katsanis, Nicholas; Stevenson, Roger E.; Choudhary, Jyoti S.; Adams, David J.; Kim, Cheol-Hee; Davis, Erica E.; Schwartz, Charles E. 分享 收藏
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia Khan, Kamal; Zech, Michael; Morgan, Angela T.; Amor, David J.; Skorvanek, Matej; Khan, Tahir N.; Hildebrand, Michael S.; Jackson, Victoria E.; Scerri, Thomas S.; Coleman, Matthew; Rigbye, Kristin A.; Scheffer, Ingrid E.; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D.; Berutti, Riccardo; Havrankova, Petra; Fecikova, Anna; Strom, Tim M.; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R.; Baig, Shahid M.; Jech, Robert; Davis, Erica E.; Katsanis, Nicholas; Winkelmann, Juliane 分享 收藏
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42 Zakaria, Muhammad; Fatima, Ambrin; Klar, Joakim; Wikstrom, Johan; Abdullah, Uzma; Ali, Zafar; Akram, Talia; Tariq, Muhammad; Ahmad, Habib; Schuster, Jens; Baig, Shahid M.; Dahl, Niklas 分享 收藏
Role of cholesterol and sphingolipids in brain development and neurological diseases Hussain, Ghulam; Wang, Jing; Rasul, Azhar; Anwar, Haseeb; Imran, Ali; Qasim, Muhammad; Zafar, Shamaila; Kamran, Syed Kashif Shahid; Razzaq, Aroona; Aziz, Nimra; Ahmad, Waseem; Shabbir, Asghar; Iqbal, Javed; Baig, Shahid Mahmood; Sun, Tao 分享 收藏
Lipids as biomarkers of brain disorders Hussain, Ghulam; Anwar, Haseeb; Rasul, Azhar; Imran, Ali; Qasim, Muhammad; Zafar, Shamaila; Imran, Muhammad; Kamran, Syed Kashif Shahid; Aziz, Nimra; Razzaq, Aroona; Ahmad, Waseem; Shabbir, Asghar; Iqbal, Javed; Baig, Shahid Mahmood; Ali, Muhammad; de Aguilar, Jose-Luis Gonzalez; Sun, Tao; Muhammad, Atif; Umair, Arshadm Muhammad 分享 收藏
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies Khan, Tahir N.; Khan, Kamal; Sadeghpour, Azita; Reynolds, Hannah; Perilla, Yezmin; McDonald, Marie T.; Gallentine, William B.; Baig, Shahid M.; Davis, Erica E.; Katsanis, Nicholas 分享 收藏
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