Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14
Pastore, Stephen F, Muhammad, Tahir, Harripaul, Ricardo, Lau, Rebecca, Khan, Muhammad Tariq Masood, Khan, Muhammad Ismail, Islam, Omar, Kang, Changsoo, Ayub, Muhammad, Jelani, Musharraf, Vincent, John B
Published in Scientific reports (30.11.2021)
Published in Scientific reports (30.11.2021)
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GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates
Ouyang, Qing, Kavanaugh, Brian C., Joesch-Cohen, Lena, Dubois, Bethany, Wu, Qing, Schmidt, Michael, Baytas, Ozan, Pastore, Stephen F., Harripaul, Ricardo, Mishra, Sasmita, Hussain, Abrar, Kim, Katherine H., Holler-Managan, Yolanda F., Ayub, Muhammad, Mir, Asif, Vincent, John B., Liu, Judy S., Morrow, Eric M.
Published in Human genetics (01.10.2019)
Published in Human genetics (01.10.2019)
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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
Sheikh, Taimoor I, Vasli, Nasim, Pastore, Stephen, Kharizi, Kimia, Harripaul, Ricardo, Fattahi, Zohreh, Pande, Shruti, Naeem, Farooq, Hussain, Abrar, Mir, Asif, Islam, Omar, Girisha, Katta Mohan, Irfan, Muhammad, Ayub, Muhammad, Schwarzer, Christoph, Najmabadi, Hossein, Shukla, Anju, Sladky, Valentina C, Braun, Vincent Zoran, Garcia-Carpio, Irmina, Villunger, Andreas, Vincent, John B
Published in Translational psychiatry (05.01.2021)
Published in Translational psychiatry (05.01.2021)
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W53. MOLECULAR AND IN SILICO ANALYSIS OF CHD2 AND CHD8 DE NOVO MUTATIONS IN NEURODEVELOPMENTAL DISORDERS
Muhammad, Tahir, Pastore, Stephen F., Mikhailov, Anna, Madanagopal, Thulasi, Good, Katrina, Ausio, Juan, Vincent, John B.
Published in European neuropsychopharmacology (01.10.2023)
Published in European neuropsychopharmacology (01.10.2023)
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Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Jin, Sheng Chih, Lewis, Sara A, Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C, Shetty, Sheetal, Nordlie, Sandra M, Elie, Aureliane, Corbett, Mark A, Norton, Bethany Y, van Eyk, Clare L, Haider, Shozeb, Guida, Brandon S, Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B, Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C, Berry, Jesia G, Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L, Frank, Mahalia S B, Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H, Knight, James R, Castaldi, Christopher, Tikhonova, Irina R, López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L, Rodan, Lance, Cohen, Julie S, Fatemi, Ali, Lin, Angela E, Phillips, John P, Feyma, Timothy, MacLennan, Suzanna C, Vaughan, Spencer, Crompton, Kylie E, Reid, Susan M, Reddihough, Dinah S, Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A, McIntyre, Sarah J, Mane, Shrikant M, Wang, Xiaoyang, Amor, David J, Zarnescu, Daniela C, Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P, Gecz, Jozef, MacLennan, Alastair H, Kruer, Michael C
Published in Nature genetics (01.03.2021)
Published in Nature genetics (01.03.2021)
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