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

Whole exome sequencing as a screening tool in dogs: A pilot study

全外显子组测序作为犬类筛查工具:一项初步研究

Boeykens, Fréderique; Bogaerts, Evelien; Vossaert, Liesbeth; Peelman, Luc; Van Nieuwerburgh, Filip; Saunders, Jimmy H; Broeckx, Bart J G

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha

一名患有综合征且DNA甲基转移酶3α基因存在杂合错义变异的患者,其颈动脉副神经节瘤复发。

German, Ryan J; Vuocolo, Blake; Vossaert, Liesbeth; Saba, Lisa; Fletcher, Robin; Tedder, Matthew L; Sadikovic, Bekim; Kerkhof, Jennifer; Wangler, Michael; Bacino, Carlos A

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability

MED12功能缺失变异是患有哈迪卡综合征和非特异性智力障碍的女性先天性膈疝的病因

Kao, Eric C; Mizerik, Elizabeth A; Bacino, Carlos A; Dai, Hongzheng; Vossaert, Liesbeth; Scott, Daryl A

Late break abstract - 2024

2024 年最新摘要

Vuocolo, Blake; German, Ryan J; Lalani, Seema R; Murali, Chaya N; Bacino, Carlos A; Baskin, Stephanie; Littlejohn, Rebecca; Odom, John D; McLean, Scott; Schmid, Carrie; Nutter, Morgan; Stuebben, Melissa; Magness, Emily; Juarez, Olivia; El Achi, Dina; Mitchell, Bailey; Glinton, Kevin E; Robak, Laurie; Nagamani, Sandesh C S; Saba, Lisa; Ritenour, Adasia; Zhang, Lilei; Streff, Haley; Chan, Katie; Kemere, K Jordan; Carter, Kent; Owen, Nichole; Vossaert, Liesbeth; Liu, Pengfei; Bellen, Hugo; Wangler, Michael F

Family Lore, a Variant of Uncertain Significance, and CADASIL

《家族传说》、《意义不明的变体》和 CADASIL

Duarte, Rhys; Vossaert, Liesbeth; Darilek, Sandra A; Rose, Chelsi; Schauer, Evan; Parobek, Christian; Bland, Emily; Machol, Keren; Mizerik, Elizabeth; Murali, Chaya N

The impact of basal cell carcinoma on the quality-of-life in older patients

基底细胞癌对老年患者生活质量的影响

Van Coile, Laura; Meertens, Annick; Shen, Amber; Waalboer-Spuij, Rick; Vossaert, Katrien; Verhaeghe, Evelien; Brochez, Lieve; Hoorens, Isabelle

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis

临床外显子组测序揭示疑似缺氧缺血性脑病新生儿的遗传疾病:一项回顾性分析

Parobek, Christian M; Zemet, Roni; Shanahan, Matthew A; Burnett, Brian A; Mizerik, Elizabeth; Rosenfeld, Jill A; Vossaert, Liesbeth; Clark, Steven L; Hunter, Jill V; Lalani, Seema R

Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

一名患有视网膜营养不良和感音神经性听力损失的患者,其RPGR基因中存在一种新的半合子单核苷酸重复。

German, Ryan J; Vuocolo, Blake; Vossaert, Liesbeth; Owen, Nichole; Lewis, Richard A; Saba, Lisa; Wangler, Michael F; Nagamani, Sandesh

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population

针对基因组医学项目中发现的具有医学意义的ATP1A3变异体,为服务不足的人群提供精准治疗

Ford, Cara P; Littlejohn, Rebecca O; German, Ryan; Vuocolo, Blake; Aceves, Jose; Vossaert, Liesbeth; Owen, Nichole; Wangler, Michael; Schmid, Carrie A

Cell-based Noninvasive Prenatal Testing (cbNIPT)-A Review on the Current Developments and Future Prospects

基于细胞的无创产前检测(cbNIPT)——现状及未来展望综述

Maktabi, Mohamad Ali; Vossaert, Liesbeth; Van den Veyver, Ignatia B