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

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

与 14q32 印迹基因簇拷贝数变异相关的临床特征

Jill A Rosenfeld, Joyce E Fox, Maria Descartes, Fallon Brewer, Tracy Stroud, Jerome L Gorski, Sheila J Upton, John B Moeschler, Berrin Monteleone, Nicholas J Neill, Allen N Lamb, Blake C Ballif, Lisa G Shaffer, J Britt Ravnan

Molecular convergence of neurodevelopmental disorders

神经发育障碍的分子融合

Elizabeth S Chen, Carolina O Gigek, Jill A Rosenfeld, Alpha B Diallo, Gilles Maussion, Gary G Chen, Kathryn Vaillancourt, Juan P Lopez, Liam Crapper, Raphaël Poujol, Lisa G Shaffer, Guillaume Bourque, Carl Ernst

Large inverted duplications in the human genome form via a fold-back mechanism

人类基因组中的大量反向重复通过折回机制形成

Karen E Hermetz, Scott Newman, Karen N Conneely, Christa L Martin, Blake C Ballif, Lisa G Shaffer, Jannine D Cody, M Katharine Rudd

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

KDM6A 单倍体不足与严重的精神运动障碍、全身生长受限、癫痫和腭裂有关

Amelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol Clericuzio, Joanne M Drautz, Jill A Rosenfeld, Lisa G Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J Harris, James F Gusella, Eric C Liao,

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

复发性 HERV-H 介导的 3q13.2-q13.31 缺失会导致肌张力低下以及运动、语言和认知发育迟缓综合征。

Andrey Shuvarikov,Ian M Campbell, Piotr Dittwald, Nicholas J Neill, Martin G Bialer, Christine Moore, Patricia G Wheeler, Stephanie E Wallace, Mark C Hannibal, Michael F Murray, Monica A Giovanni, Deborah Terespolsky, Sandi Sodhi, Matteo Cassina, David Viskochil, Billur Moghaddam, Kristin Herman, Chester W Brown, Christine R Beck, Anna Gambin, Sau Wai Cheung, Ankita Patel, Allen N Lamb, Lisa G Shaffer, Jay W Ellison, J Britt Ravnan, Paweł Stankiewicz, Jill A Rosenfeld

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

波托基-沙弗综合征区域的PHF21A基因易位破坏与智力障碍和颅面畸形有关。

Hyung-Goo Kim ,Hyun-Taek Kim, Natalia T Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V Levin, Bernd F Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H Elsea, Ethylin Wang Jabs, Marcy E MacDonald, David J Harris, Bradley J Quade, Hans-Hilger Ropers, Lisa G Shaffer, Kerstin Kutsche, Lawrence C Layman, Niels Tommerup, Vera M Kalscheuer, Yang Shi, Cynthia C Morton, Cheol-Hee Kim, James F Gusella

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

一种新方法可识别与印迹基因相关的新差异甲基化区域 (DMR)

Sanaa Choufani, Jonathan S Shapiro, Martha Susiarjo, Darci T Butcher, Daria Grafodatskaya, Youliang Lou, Jose C Ferreira, Dalila Pinto, Stephen W Scherer, Lisa G Shaffer, Philippe Coullin, Isabella Caniggia, Joseph Beyene, Rima Slim, Marisa S Bartolomei, Rosanna Weksberg

Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis

通过基于寡核苷酸的微阵列分析评估慢性淋巴细胞白血病,发现了 FISH 或细胞遗传学分析未检测到的新畸变

Kathryn A Kolquist, Roger A Schultz, Marilyn L Slovak, Lisa D McDaniel, Theresa C Brown, Raymond R Tubbs, James R Cook, Karl S Theil, Victoria Cawich, Caitlin Valentin, Sara Minier, Nicholas J Neill, Steve Byerly, S Annie Morton, Trilochan Sahoo, Blake C Ballif, Lisa G Shaffer

Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes

通过基于微阵列的比较基因组杂交评估骨髓增生异常/骨髓增生综合征的核型精度

Marilyn L Slovak, David D Smith, Victoria Bedell, Ya-Hsuan Hsu, Margaret O'Donnell, Stephen J Forman, Karl Gaal, Lisa McDaniel, Roger Schultz, Blake C Ballif, Lisa G Shaffer