Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature [0.03%]
临床RNA测序和文献复习确诊两例CCDC32相关性心血管颜面神经发育综合征兄妹
Fatimah Albuainain,Myrrhe Venema,Rachel Schot et al.
Fatimah Albuainain et al.
Cardiofacioneurodevelopmental syndrome (CFNDS, MIM:619123) is a rare genetic disorder caused by bi-allelic pathogenic variants in CCDC32. So far, CFNDS has only been described in four living individuals and one terminated fetus from four fa...
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients [0.03%]
全基因组测序在药物遗传学中的潜力：罕见疾病患者的回顾性健康记录研究
Madeline Gorny,Katja S Just,Tim Krüger et al.
Madeline Gorny et al.
The clinical relevance of pharmacogenetics (PGx) is becoming increasingly evident as knowledge in this field expands. As of May 2025, 209 clinical guideline annotations are already listed on the internationally recognized ClinPGx website. N...
Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris [0.03%]
遗传探索精神病障碍易感性和普通痤疮之间的关系
Brittany L Mitchell,Michelle K Lupton,Miguel E Rentería et al.
Brittany L Mitchell et al.
Observational epidemiology suggests a link between the dermatological disorder acne vulgaris and several psychiatric disorders. However, the biological mechanisms that underlie the relationship between acne and mental health are poorly char...
Advancing genomic medicine: Guidelines, risk scores, and disease discovery [0.03%]
推进基因组医学：指南、风险评分和疾病发现
Alisdair McNeill
Alisdair McNeill
Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarcinoma [0.03%]
多基因panel检测方法在疑似遗传性胰腺导管腺癌患者中的应用结果分析
Bruno Buecher,Mathilde Warcoin,Emilie Rolland et al.
Bruno Buecher et al.
Pancreatic ductal adenocarcinoma occur in the context of a suspected or proven genetic predisposition in 5-10% of cases. While universal germline multigene panel testing is currently recommended by NCCN and ASCO, this approach was previousl...
Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium [0.03%]
CHARM联盟无创性癌症筛查的随机对照试验：基于游离DNA的早期检测测试
Kirsten M Farncombe,Julia A Sobotka,Melyssa Aronson et al.
Kirsten M Farncombe et al.
Individuals with hereditary cancer syndromes are born with germline genetic variants that significantly increase their lifetime risk of developing multiple cancers. Cancer rates and overall mortality can be reduced with intensive surveillan...
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder [0.03%]
RSF1基因的新发杂合变异导致一种综合征性神经发育障碍
Céline Jost,Tiffany Busa,Daniel Wegner et al.
Céline Jost et al.
Neurodevelopmental disorders (NDD) are a wide and heterogenous group of conditions due to impaired brain development, orchestrated by the crosstalk between genome and environment. Dynamic chromatin regulation during cortical development is ...
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling [0.03%]
基于长读序和转录组谱分析的遗传代谢病基因组遗传图谱扩展研究
Alejandro Soriano-Sexto,Obdulia Sánchez-Lijarcio,Leonardo Beccari et al.
Alejandro Soriano-Sexto et al.
Although next-generation sequencing has emerged as a powerful tool for diagnosing rare diseases (RD), many cases of inherited metabolic diseases (IMD) remain unsolved, hindering the diagnosis, clinical and therapeutic management of the pati...
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution [0.03%]
CYP21A2相关CAH的基因诊断：适应性采样长读测序是一种准确且可扩展的解决方案
Dorte Launholt Lildballe,Morten Reiffenstein Huno,Lukas Ochsner Reynaud Ridder et al.
Dorte Launholt Lildballe et al.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, commonly caused by variants in CYP21A2 (chr6p21.33), which encodes the 21-hydroxylase enzyme. Genetic diagnosis is challenging due to the high homology between CYP21A2...
The relationship between uncertainty and trust in genomic medicine and research: A literature review and thematic analysis [0.03%]
基因组医学和研究中的不确定性与信任的关系：文献回顾和主题分析
Fabian Cannizzo,Lyndsay Newett,Rebekah McWhirter et al.
Fabian Cannizzo et al.
The concepts of uncertainty and trust in genomic research and clinical care have not been consistently defined across studies, leading to varied claims about the relationship between them. The role that social groups play in this relationsh...