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

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

X染色体上HNRNPH2基因的变异与女性神经发育障碍有关

Bain, Jennifer M; Cho, Megan T; Telegrafi, Aida; Wilson, Ashley; Brooks, Susan; Botti, Christina; Gowans, Gordon; Autullo, Leigh Anne; Krishnamurthy, Vidya; Willing, Marcia C; Toler, Tomi L; Ben-Zev, Bruria; Elpeleg, Orly; Shen, Yufeng; Retterer, Kyle; Monaghan, Kristin G; Chung, Wendy K

Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.

通过全基因组鸟枪法测序对家族性腺瘤性息肉病患者中 APC 启动子 1B 缺失进行表征

Kalbfleisch Ted, Brock Pamela, Snow Angela, Neklason Deborah, Gowans Gordon, Klein Jon

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

基因组疾病和罕见拷贝数变异的表型异质性

Girirajan, Santhosh; Rosenfeld, Jill A; Coe, Bradley P; Parikh, Sumit; Friedman, Neil; Goldstein, Amy; Filipink, Robyn A; McConnell, Juliann S; Angle, Brad; Meschino, Wendy S; Nezarati, Marjan M; Asamoah, Alexander; Jackson, Kelly E; Gowans, Gordon C; Martin, Judith A; Carmany, Erin P; Stockton, David W; Schnur, Rhonda E; Penney, Lynette S; Martin, Donna M; Raskin, Salmo; Leppig, Kathleen; Thiese, Heidi; Smith, Rosemarie; Aberg, Erika; Niyazov, Dmitriy M; Escobar, Luis F; El-Khechen, Dima; Johnson, Kisha D; Lebel, Robert R; Siefkas, Kiana; Ball, Susie; Shur, Natasha; McGuire, Marianne; Brasington, Campbell K; Spence, J Edward; Martin, Laura S; Clericuzio, Carol; Ballif, Blake C; Shaffer, Lisa G; Eichler, Evan E

Neurotransmitter abnormalities and response to supplementation in SPG11

SPG11 中神经递质异常及补充剂反应

Vanderver, Adeline; Tonduti, Davide; Auerbach, Sarah; Schmidt, Johanna L; Parikh, Sumit; Gowans, Gordon C; Jackson, Kelly E; Brock, Pamela L; Patterson, Marc; Nehrebecky, Michelle; Godfrey, Rena; Zein, Wadih M; Gahl, William; Toro, Camilo

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

在17q23.1q23.2区域发现一个复发性微缺失,该缺失两侧存在节段性重复,与心脏缺陷和肢体异常有关。

Ballif, Blake C; Theisen, Aaron; Rosenfeld, Jill A; Traylor, Ryan N; Gastier-Foster, Julie; Thrush, Devon Lamb; Astbury, Caroline; Bartholomew, Dennis; McBride, Kim L; Pyatt, Robert E; Shane, Kate; Smith, Wendy E; Banks, Valerie; Gallentine, William B; Brock, Pamela; Rudd, M Katharine; Adam, Margaret P; Keene, Julia A; Phillips, John A 3rd; Pfotenhauer, Jean P; Gowans, Gordon C; Stankiewicz, Pawel; Bejjani, Bassem A; Shaffer, Lisa G

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

HDAC4单倍体不足会导致短指畸形智力低下综合征,表现为E型短指畸形、发育迟缓和行为问题。

Williams, Stephen R; Aldred, Micheala A; Der Kaloustian, Vazken M; Halal, Fahed; Gowans, Gordon; McLeod, D Ross; Zondag, Sara; Toriello, Helga V; Magenis, R Ellen; Elsea, Sarah H

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

一例听力丧失和全面发育迟缓患者中发现罕见的新生三向复杂染色体t(5;20;8)(q31;p11.2;p21)并伴有5q31.2、5q31.3和8p23.2微缺失的病例报告

Haj, Roland; Jackson, Kelly; Torchia, Beth A; Shaffer, Lisa G; Bejjani, Bassem A; Gowans, Gordon C; Ruff, Michael W

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

扩展3q29微缺失综合征的临床表型并表征其对应的微重复

Ballif, Blake C; Theisen, Aaron; Coppinger, Justine; Gowans, Gordon C; Hersh, Joseph H; Madan-Khetarpal, Suneeta; Schmidt, Karen R; Tervo, Raymond; Escobar, Luis F; Friedrich, Christopher A; McDonald, Marie; Campbell, Lindsey; Ming, Jeffrey E; Zackai, Elaine H; Bejjani, Bassem A; Shaffer, Lisa G

Use of DNA Microarrays for Rapid Genotyping of TEM Beta-Lactamases That Confer Resistance

利用DNA微阵列技术快速对赋予耐药性的TEM β-内酰胺酶进行基因分型

Pani, Ariel M; Hobart, Holly H; Morris, Colleen A; Mervis, Carolyn B; Bray-Ward, Patricia; Kimberley, Kendra W; Rios, Cecilia M; Clark, Robin C; Gulbronson, Maricela D; Gowans, Gordon C; Gregg, Ronald G; Grimm, Verena; Ezaki, Satoshi; Susa, Milorad; Knabbe, Cornelius; Schmid, Rolf D; Bachmann, Till T