Jessica Le Gall,Catherine Dehainault,Ambre Petitalot et al.
Jessica Le Gall et al.
Purpose: The RB1 gene encodes the retinoblastoma protein (pRB) playing a major role in cell cycle control, particularly by its interaction with E2F transcription factors. Familial forms of retinoblastoma are caused by ger...
RARE-X: A Patient-Driven Approach for Collecting Symptom and Patient-Reported Outcome Data in Rare Diseases [0.03%]
罕见病症状和患者报告结果数据的采集：一种以患者为主导的方法
Vanessa Vogel-Farley,Karmen Trzupek,Jade Gosar et al.
Vanessa Vogel-Farley et al.
Purpose: Innovation in rare disease research is constrained by limited access to reliable and accessible patient data. Accurate characterization of many conditions requires infrastructure that captures population diversit...
Medical Genetics and Genomics Residency Programs: Trends in Applications, Match Rates, and Matriculation from 2015 to 2024 [0.03%]
2015至2024年医学遗传学和基因组学住院医师项目的申请趋势、匹配率及录取情况
Annie D Niehaus,David A Stevenson,Miriam G Blitzer
Annie D Niehaus
Purpose: This report analyzes Medical Genetics and Genomics (MGG) training trends from 2015 to 2024. Understanding such trends is vital for developing targeted recruitment and workforce development initiatives. ...
A Content Analysis of Health-Related Epigenetic Information in YouTube Videos [0.03%]
基于YouTube视频的健康相关表观遗传信息的内容分析
Aantaki Raisa,Irania Santaliz Moreno,Amy Ayala et al.
Aantaki Raisa et al.
Purpose: This study aimed to explore how health-related epigenetic concepts are depicted in YouTube videos, a widely accessed platform for informal science education. As epigenetics becomes increasingly relevant to medica...
Expansion of Variant Panels in Newborn Screening Algorithms to Identify Cystic Fibrosis: A Retrospective Analysis of 25 Years of Genotypes and Implications on Diagnosis [0.03%]
新生儿筛查算法中囊性纤维化变异 panels 的扩展：25 年基因型的回顾性分析及对诊断的影响
Jaime E Hale,Brian P O&#x;Sullivan,Richard B Parad et al.
Jaime E Hale et al.
Purpose: We seek to understand the incremental value of applying expanded variant panels or sequencing in population-based screening algorithms for a well-understood condition like cystic fibrosis (CF). We compared newbor...
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses [0.03%]
利用扩大的基因组和RNA剪接分析增加遗传性心脏病的诊断产量
Yuchen Chang,Emma M Rath,Magdalena Soka et al.
Yuchen Chang et al.
Purpose: The Australian Genomics Cardiovascular Disorders Flagship investigated genome sequencing as a first-line genetic test in 600 individuals with cardiomyopathy, primary arrhythmia syndromes, or congenital heart dise...
What do we mean by actionability? Examining a key criterion in genomic prenatal and newborn screening [0.03%]
我们所说的行动性指什么？对基因组产前和新生儿筛查中的一个关键标准进行考察
Amicia Phillips,Maria Siermann,Zoë Claesen-Bengtson et al.
Amicia Phillips et al.
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models [0.03%]
人类中的KLHL13功能缺陷导致神经发育障碍，可通过细胞和动物模型中抑制AURKB得到改善
Tehmeena Akhter,Zubair M Ahmed,Yaping Ji et al.
Tehmeena Akhter et al.
Purpose: Neurodevelopmental disorders (NDDs) are characterized by limitations in brain development. This study aims to determine the genetic causes of NDD in humans. ...
Correspondence on "Mainstreaming of clinical genetic testing: a conceptual framework" by Mackley et al [0.03%]
关于Mackley等人的论文《临床基因检测主流化：概念框架》的通信答复
Angela Krutish,Rebekah Kukurudz-Gorowski,Elizabeth Spriggs et al.
Angela Krutish et al.
Michael P Mackley,Julie Richer,Kym M Boycott
Michael P Mackley