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, Raúl, 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
Published in Nature communications (22.02.2024)
Published in Nature communications (22.02.2024)
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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, Geneviève, David, Lehalle, Daphné, 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
Published in Cell death & disease (30.05.2024)
Published in Cell death & disease (30.05.2024)
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Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation
Norton, Heather L., Edwards, Melissa, Krithika, S., Johnson, Monique, Werren, Elizabeth A., Parra, Esteban J.
Published in American journal of physical anthropology (01.08.2016)
Published in American journal of physical anthropology (01.08.2016)
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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
Werren, Elizabeth A., Guxholli, Alba, Jones, Natasha, Wagner, Matias, Hannibal, Iris, Granadillo, Jorge L., Tyndall, Amanda V., Moccia, Amanda, Kuehl, Ryan, Levandoski, Kristin M., Day-Salvatore, Debra L., Wheeler, Marsha, Chong, Jessica X., Bamshad, Michael J., Innes, A. Micheil, Pierson, Tyler Mark, Mackay, Joel P., Bielas, Stephanie L., Martin, Donna M.
Published in HGG advances (13.07.2023)
Published in HGG advances (13.07.2023)
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A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia
Werren, Elizabeth A., Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Pandey, Akanksha, Vaish, Saurabh, Kabbur, Anusha Raj, Nandeesh, Bevinahalli N., Srivastava, Anshika
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
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A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome
Werren, Elizabeth A, Kalsner, Louisa, Ewald, Jessica, Peracchio, Michael, King, Cameron, Vats, Purva, Audano, Peter A, Robinson, Peter N, Adams, Mark D, Kelly, Melissa A, Matson, Adam P
Published in bioRxiv : the preprint server for biology (22.04.2024)
Published in bioRxiv : the preprint server for biology (22.04.2024)
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Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects
Werren, Elizabeth A, Rodriguez Bey, Guillermo, Majethia, Purvi, Kaur, Parneet, Patil, Siddaramappa J, Kekatpure, Minal, 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
Published in Brain (London, England : 1878) (18.09.2024)
Published in Brain (London, England : 1878) (18.09.2024)
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Journal Article
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia
Werren, Elizabeth A, Srinivasan, Varunvenkat M, Gowda, Vykuntaraju K, Pandey, Akanksha, Vaish, Saurabh, Kabbur, Anusha Raj, Nandeesh, Bevinahalli N, Srivastava, Anshika
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
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Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
Werren, Elizabeth A, Laforce, Geneva R, Srivastava, Anshika, Perillo, Delia R, Johnson, Katherine, Berger, Brandon, Safa Baris, Regan, Samantha L, Pfennig, Christian D, De Munnik, Sonja, Rolph Pfundt, Hebbar, Malavika, Jimenez-Heredia, Raul, Karakoc-Aydiner, Elif, Ozen, Ahmet, Dmytrus, Jasmin, Krolo, Ana, Corning, Ken, Prijoles, Ej, Louie, Raymond, Lebel, Robert, Le, Thuy-Linh, Gordon, Chris, Girish, Katta M, Boztug, Kaan, Shukla, Anju, Bielas, Stephanie L, Schaffer, Ashleigh E
Published in bioRxiv (07.09.2022)
Published in bioRxiv (07.09.2022)
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