未登录 RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis Ryan, C. W.; Regan, S. L.; Mills, E. F.; McGrath, B. T.; Gong, E.; Lai, Y. T.; Sheingold, J. B.; Patel, K.; Horowitz, T.; Moccia, A.; Tsan, Y. C.; Srivastava, A.; Bielas, S. L. 分享 收藏
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Werren, Elizabeth A.; Peirent, Emily R.; Jantti, Henna; Guxholli, Alba; Srivastava, Kinshuk Raj; Orenstein, Naama; Narayanan, Vinodh; Wiszniewski, Wojciech; Dawidziuk, Mateusz; Gawlinski, Pawel; Umair, Muhammad; Khan, Amjad; Khan, Shahid Niaz; Genevieve, David; Lehalle, Daphne; van Gassen, K. L. I.; Giltay, Jacques C.; Oegema, Renske; van Jaarsveld, Richard H.; Rafiullah, Rafiullah; Rappold, Gudrun A.; Rabin, Rachel; Pappas, John G.; Wheeler, Marsha M.; Bamshad, Michael J.; Tsan, Yao-Chang; Johnson, Matthew B.; Keegan, Catherine E.; Srivastava, Anshika; Bielas, Stephanie L. 分享 收藏
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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome Werren, Elizabeth A.; Laforce, Geneva R.; Srivastava, Anshika; Perillo, Delia R.; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L.; Pfennig, Christian D.; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raul; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E. J.; Louie, Raymond J.; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T.; Boztug, Kaan; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L.; Schaffer, Ashleigh E. 分享 收藏
The major genetic risk factor for severe COVID-19 does not show any association among South Asian populations Singh, Prajjval Pratap; Srivastava, Anshika; Sultana, Gazi Nurun Nahar; Khanam, Nargis; Pathak, Abhishek; Suravajhala, Prashanth; Singh, Royana; Shrivastava, Pankaj; van Driem, George; Thangaraj, Kumarasamy; Chaubey, Gyaneshwer 分享 收藏
Genetic and linguistic non-correspondence suggests evidence for collective social climbing in the Kol tribe of South Asia Srivastava, Anshika; Singh, Prajjval Pratap; Bandopadhyay, Audditiya; Singh, Pooja; Das, Debashruti; Tamang, Rakesh; Chaubey, Akhilesh Kumar; Shrivastava, Pankaj; van Driem, George; Chaubey, Gyaneshwer 分享 收藏
The peopling of Lakshadweep Archipelago Mustak, Mohammed S.; Rai, Niraj; Naveen, Mohan Rao; Prakash, Satya; Carlus, S. Justin; Pasupuleti, Nagarjuna; Srivastava, Anshika; Singh, Prajjval Pratap; Babu, Idrees; Dubey, Pavan Kumar; Chaubey, Gyaneshwer; Thangaraj, Kumarasamy 分享 收藏
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Genetic analysis of CHARGE syndrome identifies overlapping molecular biology Moccia, Amanda; Srivastava, Anshika; Skidmore, Jennifer M.; Bernat, John A.; Wheeler, Marsha; Chong, Jessica X.; Nickerson, Deborah; Bamshad, Michael; Hefner, Margaret A.; Martin, Donna M.; Bielas, Stephanie L. 分享 收藏
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency Srivastava, Anshika; Srivastava, Kinshuk Raj; Hebbar, Malavika; Galada, Chelna; Kadavigrere, Rajagopal; Su, Fengyun; Cao, Xuhong; Chinnaiyan, Arul M.; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L. 分享 收藏
Genotype-phenotype correlations in individuals with pathogenic RERE variants 具有致病性RERE变异的个体的基因型-表型相关性 Jordan, Valerie K.; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J.; Balci, Tugce B.; Carter, Melissa T.; Bernat, John A.; Moccia, Amanda N.; Srivastava, Anshika; Martin, Donna M.; Bielas, Stephanie L.; Pappas, John; Svoboda, Melissa D.; Rio, Marlene; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M.; Scaglia, Fernando; Kohler, Jennefer N.; Bernstein, Jonathan A.; Dries, Annika M.; Rosenfeld, Jill A.; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H.; Bi, Weimin; Scott, Daryl A. 分享 收藏
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome Belanger, Catherine; Berube-Simard, Felix-Antoine; Leduc, Elizabeth; Bernas, Guillaume; Campeau, Philippe M.; Lalani, Seema R.; Martin, Donna M.; Bielas, Stephanie; Moccia, Amanda; Srivastava, Anshika; Silversides, David W.; Pilon, Nicolas 分享 收藏
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De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome Srivastava, Anshika; Ritesh, K. C.; Tsan, Yao-Chang; Liao, Rosy; Su, Fengyun; Cao, Xuhong; Hannibal, Mark C.; Keegan, Catherine E.; Chinnaiyan, Arul M.; Martin, Donna M.; Bielas, Stephanie L. 分享 收藏
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus von Kampen, Oliver; Buch, Stephan; Nothnagel, Michael; Azocar, Lorena; Molina, Hector; Brosch, Mario; Erhart, Wiebke; von Schoenfels, Witigo; Egberts, Jan; Seeger, Marcus; Arlt, Alexander; Balschun, Tobias; Franke, Andre; Lerch, Markus M.; Mayerle, Julia; Kratzer, Wolfgang; Boehm, Bernhard O.; Huse, Klaus; Schniewind, Bodo; Tiemann, Katharina; Jiang, Zhao-Yan; Han, Tian-Quan; Mittal, Balraj; Srivastava, Anshika; Fenger, Mogens; Jorgensen, Torben; Schirin-Sokhan, Ramin; Toenjes, Anke; Wittenburg, Henning; Stumvoll, Michael; Kalthoff, Holger; Lammert, Frank; Tepel, Juergen; Puschel, Klaus; Becker, Thomas; Schreiber, Stefan; Platzer, Matthias; Voelzke, Henry; Krawczak, Michael; Francisco Miquel, Juan; Schafmayer, Clemens; Hampe, Jochen 分享 收藏
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