Seda Sinem Zonuzi
Seda Sinem Zonuzi
Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer [0.03%]
多组学数据集成发现早期结直肠癌新的易感候选基因
Anael López-Novo,Jorge Amigo,Andrés Dacal et al.
Anael López-Novo et al.
Colorectal cancer (CRC) is increasingly diagnosed in individuals under 50 years of age, yet the underlying genetic predisposition remains largely unexplained, particularly in mismatch repair (MMR)-proficient cases. This study aimed to ident...
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study [0.03%]
基因多效性与先天性低促性腺素性性腺功能减退症和唇裂/腭裂的关联：来自全基因组CHH队列研究的证据
Fernanda de Azevedo Correa,Imen Habibi,Jing Zhai et al.
Fernanda de Azevedo Correa et al.
Congenital hypogonadotropic hypogonadism (CHH) is a rare and genetically heterogeneous disorder characterized by absent or incomplete puberty due to impaired gonadotropin-releasing hormone (GnRH) function. A subset of individuals with CHH a...
Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats [0.03%]
_telomere-to-telomere时代重新思考面肩肱肌肉营养不良症的基因组学：D4Z4重复隐藏景观中的陷阱_
Valentina Salsi,Francesca Losi,Sara Pini et al.
Valentina Salsi et al.
Facioscapulohumeral muscular dystrophy (FSHD) is genetically associated with reduction of the D4Z4 macrosatellite array at 4q35 on a permissive 4qA haplotype, a configuration that enables the stable expression of the DUX4 transcription fact...
Innovative solutions to support mothers and fathers after genomic sequencing [0.03%]
基因测序后支持父母的创新解决方案
Erin Turbitt,Elizabeth Callinan
Erin Turbitt
Childhood motor speech disorders: who to prioritise for genetic testing [0.03%]
儿童运动性语言障碍：谁需要优先进行基因检测？
Halianna Van Niel,Mariana Lauretta,Emma Baker et al.
Halianna Van Niel et al.
The aetiology of childhood motor speech disorders of dysarthria and apraxia has been poorly understood. Recent evidence suggests a moderate genetic contribution for these rare and severe speech disorders. To date, however, no studies have e...
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis) [0.03%]
ERN Genturis关于遗传性肿瘤综合症（包括Genturis）患者生育咨询的指南
Said C Farschtschi,Candy Kumps,Tamara Hussong Milagre et al.
Said C Farschtschi et al.
Cancer predisposition syndromes (CPSs), including genetic tumour risk syndromes (genturis), are a heterogeneous group of genetic disorders characterised by an increased risk of developing tumours compared to the general population. CPSs rai...
Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts [0.03%]
不同多基因风险评分预测乳腺癌风险的性能：在大型英国和澳大利亚队列中的深入评估
Hamzeh M Tanha,Matthew H Law,Nathan Ingold et al.
Hamzeh M Tanha et al.
Polygenic risk scores (PGS) have the potential to support enhanced, risk-based screening for breast cancer. Previous studies for many diseases found that genome-wide PGS (GW-PGS) outperform PGS derived by applying hard GWAS significance thr...
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and CYP2C19 and tricyclic antidepressants [0.03%]
荷兰药物基因组学工作组(CYP2D6和CYP2C19与三环类抗抑郁药之间的基因型-药物相互作用指南)
Kristian Kleine Schaars,Marga Nijenhuis,Bianca Soree et al.
Kristian Kleine Schaars et al.
The Dutch Pharmacogenetic Working Group (DPWG) aims to integrate pharmacogenetics into clinical practice by creating evidence-based guidelines to optimize pharmacotherapy based on genetic tests. The current guideline describes the gene-drug...
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort [0.03%]
在健康人群队列中鉴定出与严重儿科疾病相关的意外基因型
Yasmin Bylstra,Weng Khong Lim,Jing Xian Teo et al.
Yasmin Bylstra et al.
The expansion of genomics provides opportunity to screen individuals beyond clinical indication yet the classification of genomic variants and implications for health outcomes in this context is still emerging. We investigated this further ...