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

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

全转录组异常值方法识别患有轻微剪接异常的个体

Arriaga, Taylor M; Mendez, Rodrigo; Ungar, Rachel A; Bonner, Devon E; Matalon, Dena R; Lemire, Gabrielle; Goddard, Pagé C; Padhi, Evin M; Miller, Alexander M; Nguyen, Jonathan V; Ma, Jialan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Bademci, Guney; Bivona, Stephanie A; Tekin, Mustafa; Bernstein, Jonathan A; Montgomery, Stephen B; O'Donnell-Luria, Anne; Wheeler, Matthew T; Ganesh, Vijay S

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

CDKL1 和 CDKL2 的新生变异与神经发育症状相关

Bereshneh, Ali H; Andrews, Jonathan C; Eberl, Daniel F; Bademci, Guney; Borja, Nicholas A; Bivona, Stephanie; Chung, Wendy K; Yamamoto, Shinya; Wangler, Michael F; McKee, Shane; Tekin, Mustafa; Bellen, Hugo J; Kanca, Oguz

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies

基因组测序揭示了具有先天性前段异常的多元化人群中的新变异

Hussain, Ashraf; Villalba, Maria Fernanda; Swols, Dayna Morel; Khzam, Rayan Abou; Johnson, Brittney Keira; Peart, LéShon; D'Haiti, Sarha; Grajewski, Alana L; Tekin, Mustafa; Chang, Ta Chen; Bademci, Guney

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

KIF21A相关周围神经病变定义为与TUBB3结合受损

Borja, Nicholas A; Zafeer, Mohammad Faraz; Bivona, Stephanie; Peart, LéShon; Gultekin, Sakir Humayun; Bademci, Guney; Tekin, Mustafa

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.

遗传性听力损失的遗传异质性:纤毛运动蛋白 TOGARAM2 的潜在作用

Ramzan Memoona, Zafeer Mohammad Faraz, Abad Clemer, Guo Shengru, Owrang Daniel, Alper Ozgul, Mutlu Ahmet, Atik Tahir, Duman Duygu, Bademci Guney, Vona Barbara, Kalcioglu Mahmut Tayyar, Walz Katherina, Tekin Mustafa

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

ATP1A1基因的复发性变异Gly903Arg会导致发育迟缓、智力障碍和自闭症。

Dohrn, Maike F; Bademci, Guney; Rebelo, Adriana P; Jeanne, Médéric; Borja, Nicholas A; Beijer, Danique; Danzi, Matt C; Bivona, Stephanie A; Gueguen, Paul; Zafeer, Mohammad F; Tekin, Mustafa; Züchner, Stephan

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

EFEMP1单倍体不足会导致一种类似马凡氏综合征的遗传性结缔组织疾病。

Forghani, Irman; Lang, Steven H; Rodier, Matthew J; Bivona, Stephanie A; Morales, Alejo A; Zuchner, Stephan; Bademci, Guney; Tekin, Mustafa

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss

在常染色体显性遗传性感觉神经性听力损失家族中鉴定出新的MYH14变异

Duman, Duygu; Ramzan, Memoona; Subasioglu, Asli; Mutlu, Ahmet; Peart, LéShon; Seyhan, Serhat; Guo, Shengru; Ila, Kadri; Balta, Burhan; Kalcioglu, Mahmut Tayyar; Bademci, Guney; Tekin, Mustafa

Dispersed DNA variants underlie hearing loss in South Florida's minority population

南佛罗里达州少数族裔人群听力损失的根本原因在于分散的DNA变异。

Peart, LéShon; Gonzalez, Joanna; Morel Swols, Dayna; Duman, Duygu; Saridogan, Turcin; Ramzan, Memoona; Zafeer, Mohammad Faraz; Liu, Xue Zhong; Eshraghi, Adrien A; Hoffer, Michael E; Angeli, Simon I; Bademci, Guney; Blanton, Susan; Smith, Carson; Telischi, Fred F; Tekin, Mustafa