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| | Publication Year | Title | Author(s) |
| 1 | 22-Oct-2023 | Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Duan, Jing; Yao, Yi; Li, Lin; Chen, Li; Cao, Dezhi; Hu, Zhanqi; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 2 | Dec-2022 | Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Bennett, Mark F ; Brown, Natasha J; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Vedururu, Ravikiran; Witkowski, Tom ; Gardiner, Fiona; Stutterd, Chloe A ; Duan, Jing; Mullen, Saul A ; McGillivray, George; Bodek, Simon; Valente, Giulia M ; Reagan, Matthew; Yao, Yi; Li, Lin; Chen, Li; Boys, Amber; Adikari, Thiuni N; Cao, Dezhi; Hu, Zhanqi; Beshay, Victoria; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 3 | 2022 | Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. | Stephenson, Sarah E M; Costain, Gregory; Blok, Laura E R; Silk, Michael A; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E; Dowling, James J; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z; Björnsson, Hans Tómas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew J ; Jansen, Sandra; Weisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M; Ascher, David B; Schenck, Annette; Lockhart, Paul J; Christodoulou, John; Tan, Tiong Yang; Rodan, Lance H; Schwartz, Marc A; Picker, Jonathan; Lynch, Sally A; Gupta, Aditi; Rasmussen, Kristen J; Schimmenti, Lisa A; Klee, Eric W; Niu, Zhiyv; Agre, Katherine E; Chilton, Ilana; Chung, Wendy K; Revah-Politi, Anya; Au, P Y Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E; Sapp, Katie; Willems, Marjolaine; Bruel, Ange-Line; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E L; Zhu, Ying; Baker, Joshua J; Scheffer, Ingrid E ; Gardiner, Fiona J; Schneider, Amy L ; Muir, Alison M; Mefford, Heather C; Crunk, Amy; Heise, Elizabeth M; Millan, Francisca; Monaghan, Kristin G; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M; Cogné, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J; Boyce, Jessica O; Morgan, Angela T; Hildebrand, Michael S ; Kaspi, Antony; Bahlo, Melanie; Friðriksdóttir, Rún; Katrínardóttir, Hildigunnur; Sulem, Patrick; Stefánsson, Kári |
| 4 | 14-Oct-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. | Palencia-Campos, Adrian; Aoto, Phillip C; Machal, Erik M F; Rivera-Barahona, Ana; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Van Hul, Wim; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S ; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F ; Schneider, Amy L ; Scheffer, Ingrid E ; Kibæk, Maria; Kristiansen, Britta S; Issa, Mahmoud Y; Mehrez, Mennat I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skålhegg, Bjørn Steen; Otaify, Ghada A; Temtamy, Samia; Aglan, Mona; Jønch, Aia E; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, Alban; Wallis, Mathew J ; Lapunzina, Pablo; Herberg, Friedrich W; Taylor, Susan S; Ruiz-Perez, Victor L |
| 5 | 20-Jul-2019 | Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. | Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; Harlan De Crescenzo, Angelo; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S ; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quélin, Chloé; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew J ; Walsh, Laurence; Yang, Sandra; Yuen, Ryan K C; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martínez-Cerdeño, Verónica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami |
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