日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Colorectal cancer in a 13-year-old with constitutional mismatch repair deficiency and MUTYH heterozygosity

一名13岁患有先天性错配修复缺陷和MUTYH杂合子的青少年罹患结直肠癌

Cohan, Chloe J; Putzeys, Caroline Chinchilla; Pruniski, Brianna; Tran, Paul

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

NADSYN1依赖性先天性NAD缺乏症的代谢特征

Szot, Justin O; Cuny, Hartmut; Martin, Ella Mma; Sheng, Delicia Z; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M; Vincent-Delormé, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S; Tan, Tiong Y; Pitt, James; Wise, Cheryl A; Wright, Helen; Andrews, Israel D; Pruniski, Brianna; Grebe, Theresa A; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J; Hunter, Matthew F; Heath, Oliver; Lakhani, Saquib A; McDermott, John H; Ascher, David B; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L

Diagnostic and Prognostic Implications of GNAS Inactivation in Sonic Hedgehog-Activated Medulloblastoma: Case Report with Comprehensive Molecular Profiling and Review of Literature

GNAS失活在Sonic Hedgehog激活的髓母细胞瘤中的诊断和预后意义:病例报告、全面分子谱分析及文献综述

Goode, Erin; Montoya, Liliana; Graham, Eric; Pruniski, Brianna; Simmons, Curtis; Ngwube, Alexander; Hoffman, Lindsey M; Tiwari, Nishant; Aldape, Kenneth; Price, Harper N; Paulson, Vera; Mangum, Ross

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

ITSN1:一种与常染色体显性神经发育障碍谱系相关的新型候选基因

Bruel, Ange-Line; Vitobello, Antonio; Thiffault, Isabelle; Manwaring, Linda; Willing, Marcia; Agrawal, Pankaj B; Bayat, Allan; Kitzler, Thomas M; Brownstein, Catherine A; Genetti, Casie A; Gonzalez-Heydrich, Joseph; Jayakar, Parul; Zyskind, Jacob W; Zhu, Zehua; Vachet, Clemence; Wilson, Gena R; Pruniski, Brianna; Goyette, Anne-Marie; Duffourd, Yannis; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

位于浮港综合征基因座之外的SRCAP截断变异会导致一种独特的神经发育障碍,并具有特定的DNA甲基化特征。

Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

与全面发育迟缓相关的KCND2变异体对Kv4.2通道门控的损害程度不同。

Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; McLaughlin, Heather; Bolz, Hanno J; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Bähring, Robert