Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
从国际多学科角度考虑癌症遗传风险的连续性：美国医学遗传学院和基因组学协会（ACMG）观点说明声明
Tuya Pal,Joseph Christopher,Esteban Astiazaran-Symonds et al.
Tuya Pal et al.
Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and...
Points to consider for the next-generation-sequencing-based detection of copy-number abnormalities (CNAs) and balanced chromosomal rearrangements in neoplastic disorders: A statement of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
基于下一代测序技术检测肿瘤疾病中拷贝数异常和平衡染色体易位的注意事项——美国医学遗传学院（ACMG）声明要点
Kathleen M Schieffer,Cynthia Hawkins,Nan Jiang et al.
Kathleen M Schieffer et al.
Utilization of Current ACC/AHA Genetic Testing Recommendations for Thoracic Aortic Disease at a Large Adult Aortic Center [0.03%]
大型成人主动脉中心目前对胸主动脉疾病ACC / AHA基因检测建议的使用情况
Habib Jabagi,Richard E Shaw,Amy R Kontorovich et al.
Habib Jabagi et al.
Background: Thoracic aortic aneurysms (TAA) are typically asymptomatic until rupture or dissection, with research indicating up to 20% may have a genetic basis. This study evaluates the prevalence of hereditary aortopathi...
Arianne Bouman,Charlotte M W Gaasterland,Carla Sloof-Enthoven et al.
Arianne Bouman et al.
Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder (mNDD) with multisystem involvement, caused by disruption of EHMT1 function, resulting in significant burden on affected individuals and their families. The current...
Response to Saleem et al [0.03%]
对Saleem等人的回应
Irene Valenzuela,Marta Codina-Solà,Eduardo F Tizzano
Irene Valenzuela
Correspondence on "Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 Reveals a clinically recognizable syndrome" by Valenzuela et al [0.03%]
关于Valenzuela等人的论文《RNU4-2致病变异引起的11例个体的深度表型研究揭示一种可识别的综合征》的通信讨论
Zarnab Saleem,Jawairya Muhammad Hussain,Qurat-Ul-Ain Siddiqui et al.
Zarnab Saleem et al.
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder [0.03%]
RAPGEF2的新发杂合变异与神经发育障碍相关
Ali H Bereshneh,Kirkland A Wilson,Xueyang Pan et al.
Ali H Bereshneh et al.
Purpose: RAPGEF2 encodes a guanine nucleotide exchange factor (GEF) that activates small GTPases and has not been linked to a Mendelian disorder. RAPGEF2 is highly intolerant to loss-of-function variants. We report five d...
Adult outcomes of clinically relevant genomic disorders: A systematic review and meta-analysis [0.03%]
基因组疾病成人期临床转归的系统评价和meta分析
Sarah L Malecki,David DArienzo,Erica Wennberg et al.
Sarah L Malecki et al.
Purpose: Genomic disorders comprise a major source of human disease with survival into adulthood for most individuals, but data on adult outcomes are limited. ...
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study [0.03%]
长期使用 Sepiapterin 对苯酮尿症患者饮食中苯丙氨酸耐受性的影响：APhEnITY 扩展研究 (III 期) 的中期结果
Francjan van Spronsen,Heidi Peters,Lali Margvelashvili et al.
Francjan van Spronsen et al.
Purpose: To report interim results from the ongoing, open-label, Phase 3 APHENITY Extension Study (NCT05166161), evaluating long-term treatment with sepiapterin in patients with phenylketonuria. ...
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort [0.03%]
在罕见病中评估基因组测序临床效用的全面方法：一项大规模前瞻性加拿大队列研究
Salma Shickh,Katharine Fooks,Viji Venkataramanan et al.
Salma Shickh et al.
Purpose: We characterized dimensions of clinical utility in a prospective, observational cohort of patients with rare diseases undergoing genome sequencing (GS). ...