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

Transdiagnostic Behavioral Phenotypes and Comorbid Gastrointestinal Symptoms in Neurodevelopmental Disorders: An Exploratory Study

神经发育障碍的跨诊断行为表型和共病胃肠道症状:一项探索性研究

Cleary, Shane; Asbury, Sarah; Schachar, Russell J; Crosbie, Jennifer; Nicolson, Robert; Weksberg, Rosanna; Kelley, Elizabeth; Jones, Jessica; Ayub, Muhammad; Georgiades, Stelios; Anagnostou, Evdokia; Foster, Jane A

DNA methylation alterations in acute lymphoblastic leukemia survivors with late neurocognitive deficits

急性淋巴细胞白血病幸存者出现晚期神经认知缺陷时的DNA甲基化改变

Goodman, Sarah J; Butcher, Darci T; Guger, Sharon L; Diehl, Eric; Brzezinski, Jack; Spiegler, Brenda; Nieman, Brian J; Kallurkar, Prajkta; Boulet Craig, Aubrée; Krajinovic, Maja; Laniel, Julie; Laverdière, Caroline; Sinnett, Daniel; Lippé, Sarah; Turinsky, Andrei; Shago, Mary; Strug, Lisa J; Ito, Shinya; Hitzler, Johann K; Schachar, Russell; Weksberg, Rosanna

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

利用人工智能驱动的基因型-表观基因型-表型方法解决综合征诊断难题

Mak, Christopher C Y; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K; Pisan, Elise; Chui, Martin M C; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C; Sanchez-Lara, Pedro A; Bombei, Hannah M; Bernat, John A; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clémence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E; Gordon, Christopher T; Doherty, Dan; Krawitz, Peter M; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H Y

Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis

儿童NF2、SMARCB1和LZTR1相关神经鞘瘤病癌症和中枢神经系统肿瘤监测的最新进展

Perrino, Melissa R; Jongmans, Marjolijn C J; Tomlinson, Gail E; Greer, Mary-Louise C; Scollon, Sarah R; Mitchell, Sarah G; Hansford, Jordan R; Schultz, Kris Ann P; Kohlmann, Wendy K; Kalish, Jennifer M; MacFarland, Suzanne P; Das, Anirban; Maxwell, Kara N; Pfister, Stefan M; Weksberg, Rosanna; Michaeli, Orli; Tabori, Uri; Ney, Gina M; Lupo, Philip J; Brzezinski, Jack J; Stewart, Douglas R; Woodward, Emma R; Kratz, Christian P

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Vincristine-induced brain toxicity is reduced with prevention of peripheral axon degeneration in Sarm1 knockout mice

在Sarm1基因敲除小鼠中,通过预防周围轴突退化,可降低长春新碱引起的脑毒性。

Yeung, Jonas; Hsu, Prisca; Mak, Jordan; Darbandi, Ali; Wheeler, Anne L; Weksberg, Rosanna; Guger, Sharon L; Schachar, Russell J; Ito, Shinya; Hitzler, Johann; Nieman, Brian J

Using long-read sequencing to detect and subtype a case with Temple syndrome

利用长读长测序技术检测和分型一例坦普尔综合征病例。

Dada, Sarah; Akbari, Vahid; Hejla, Duha; Shen, Yaoqing; Dixon, Katherine; Choufani, Sanaa; Weksberg, Rosanna A; Boerkoel, Cornelius F; Stewart, Laura; Schlade-Bartusiak, Kamilla; Strong, Emma; Fox, Danya; Gamu, Daniel; Gibson, William T; Jones, Steven J M

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome

HNRNPK KH3结构域中的一种新型内含子变异导致轻型奥克莱恩综合征

Mingoia, Maura; Meloni, Alessandra; Sedda, Silvia; Choufani, Sanaa; Asunis, Isadora; Gemma, Giorgia; Ammendola, Antonio; Torabi-Marashi, Arteen; di Venere, Eleonora; Squeo, Gabriella Maria; Rallo, Vincenzo; Marini, Maria Giuseppina; Moi, Paolo; Savasta, Salvatore; Weksberg, Rosanna; Merla, Giuseppe; Angius, Andrea

Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors

儿童脑肿瘤癌症易感综合征及监测指南最新进展

Hansford, Jordan R; Das, Anirban; McGee, Rose B; Nakano, Yoshiko; Brzezinski, Jack; Scollon, Sarah R; Rednam, Surya P; Schienda, Jaclyn; Michaeli, Orli; Kim, Sun Young; Greer, Mary-Louise C; Weksberg, Rosanna; Stewart, Douglas R; Foulkes, William D; Tabori, Uri; Pajtler, Kristian W; Pfister, Stefan M; Brodeur, Garrett M; Kamihara, Junne

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies

关于患有 1 型神经纤维瘤病、努南综合征、CBL 综合征、科斯特洛综合征及相关 RAS 病患者的儿科癌症监测建议更新

Perrino, Melissa R; Das, Anirban; Scollon, Sarah R; Mitchell, Sarah G; Greer, Mary-Louise C; Yohe, Marielle E; Hansford, Jordan R; Kalish, Jennifer M; Schultz, Kris Ann P; MacFarland, Suzanne P; Kohlmann, Wendy K; Lupo, Philip J; Maxwell, Kara N; Pfister, Stefan M; Weksberg, Rosanna; Michaeli, Orli; Jongmans, Marjolijn C J; Tomlinson, Gail E; Brzezinski, Jack; Tabori, Uri; Ney, Gina M; Gripp, Karen W; Gross, Andrea M; Widemann, Brigitte C; Stewart, Douglas R; Woodward, Emma R; Kratz, Christian P