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

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

MECP2 重复综合征中的结构变异等位基因异质性有助于了解临床严重程度和疾病表达的变化

Davut Pehlivan #, Jesse D Bengtsson #, Sameer S Bajikar #, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeld

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

16p11.2区域复发性缺失和重复患者的癫痫发作和癫痫的临床特征

Moufawad El Achkar, Christelle; Rosen, Alyssa; Kessler, Sudha Kilaru; Steinman, Kyle J; Spence, Sarah J; Ramocki, Melissa; Marco, Elysa Jill; Green Snyder, LeeAnne; Spiro, John E; Chung, Wendy K; Annapurna, Poduri; Sherr, Elliott H

Altered neuronal network and rescue in a human MECP2 duplication model

人类 MECP2 复制模型中的神经网络改变及挽救

S Nageshappa, C Carromeu, C A Trujillo, P Mesci, I Espuny-Camacho, E Pasciuto, P Vanderhaeghen, C M Verfaillie, S Raitano, A Kumar, C M B Carvalho, C Bagni, M B Ramocki, B H S Araujo, L B Torres, J R Lupski, H Van Esch, A R Muotri

Clinical phenotype of the recurrent 1q21.1 copy-number variant

复发性 1q21.1 拷贝数变异的临床表型

Bernier, Raphael; Steinman, Kyle J; Reilly, Beau; Wallace, Arianne Stevens; Sherr, Elliott H; Pojman, Nicholas; Mefford, Heather C; Gerdts, Jennifer; Earl, Rachel; Hanson, Ellen; Goin-Kochel, Robin P; Berry, Leandra; Kanne, Stephen; Snyder, LeeAnne Green; Spence, Sarah; Ramocki, Melissa B; Evans, David W; Spiro, John E; Martin, Christa L; Ledbetter, David H; Chung, Wendy K

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

17p13.1区域片段的剂量变化会导致智力障碍和小头畸形,这是由多个基因复杂的遗传相互作用引起的。

Claudia M B Carvalho ,Shivakumar Vasanth ,Marwan Shinawi ,Chad Russell ,Melissa B Ramocki ,Chester W Brown ,Jesper Graakjaer ,Anne-Bine Skytte ,Angela M Vianna-Morgante ,Ana C V Krepischi ,Gayle S Patel ,LaDonna Immken ,Kyrieckos Aleck ,Cynthia Lim ,Sau Wai Cheung ,Carla Rosenberg ,Nicholas Katsanis ,James R Lupski

Replicative mechanisms for CNV formation are error prone

CNV形成的复制机制容易出错。

Claudia M B Carvalho,Davut Pehlivan, Melissa B Ramocki, Ping Fang, Benjamin Alleva, Luis M Franco, John W Belmont, P J Hastings, James R Lupski

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

TM4SF20 祖先缺失与儿童早期语言发育迟缓和脑白质高信号易感性

Wiszniewski, Wojciech; Hunter, Jill V; Hanchard, Neil A; Willer, Jason R; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W; Patel, Ankita; Campbell, Ian M; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R; Azamian, Mahshid S; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P; Ramocki, Melissa B; Santos-Cortez, Regie L P; Wang, Gao; York, Michele K; Justice, Monica J; Chu, Zili D; Bader, Patricia I; Omo-Griffith, Lisa; Madduri, Nirupama S; Scharer, Gunter; Crawford, Heather P; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A; Franklin, Adiaha I A; Goin-Kochel, Robin P; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E; Stosic, Marija; Williams, Misti D; Morgan, Thomas M; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A; Win, Kay K; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen; Gallagher, Thomas E; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L; Maletic-Savatic, Mirjana; Rosenfeld, Jill A; Shaffer, Lisa G; Davis, Erica E; Belmont, John W; Dunstan, Sarah; Simmons, Cameron P; Bonnen, Penelope E; Leal, Suzanne M; Katsanis, Nicholas; Lupski, James R; Lalani, Seema R

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

大规模基因组知识与频率数据的融合,通过计算方法对癫痫中的变异进行优先级排序

Campbell, Ian M; Rao, Mitchell; Arredondo, Sean D; Lalani, Seema R; Xia, Zhilian; Kang, Sung-Hae L; Bi, Weimin; Breman, Amy M; Smith, Janice L; Bacino, Carlos A; Beaudet, Arthur L; Patel, Ankita; Cheung, Sau Wai; Lupski, James R; Stankiewicz, Paweł; Ramocki, Melissa B; Shaw, Chad A

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

TM4SF20 祖先缺失与儿童早期语言发育迟缓和脑白质高信号疾病的易感性

de Bode, Stella; Fritz, Stacy; Mathern, Gary W; Wiszniewski, Wojciech; Hunter, Jill V; Hanchard, Neil A; Willer, Jason R; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W; Patel, Ankita; Campbell, Ian M; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R; Azamian, Mahshid S; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P; Ramocki, Melissa B; Santos-Cortez, Regie LP; Wang, Gao; York, Michele K; Justice, Monica J; Chu, Zili D; Bader, Patricia I; Omo-Griffith, Lisa; Madduri, Nirupama S; Scharer, Gunter; Crawford, Heather P; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A; Franklin, Adiaha IA; Goin-Kochel, Robin; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E; Stosic, Marija; Williams, Misti D; Morgan, Thomas M; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A; Win, Kay K; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen; Gallagher, Thomas E; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L; Maletic-Savatic, Mirjana; Rosenfeld, Jill A; Shaffer, Lisa G; Davis, Erica E; Belmont, John W; Dunstan, Sarah; Simmons, Cameron P; Bonnen, Penelope E; Leal, Suzanne M; Katsanis, Nicholas; Lupski, James R; Lalani, Seema R

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses

甲基-CpG结合蛋白2的过度表达会损害T(H)1反应

Yang, Tianshu; Ramocki, Melissa B; Neul, Jeffrey L; Lu, Wen; Roberts, Luz; Knight, John; Ward, Christopher S; Zoghbi, Huda Y; Kheradmand, Farrah; Corry, David B