A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss [0.03%]
CENPP基因的一个新颖的无义变异与一个患有常染色体显性低频感音神经性耳聋的瑞士系谱相关联
Paula Robles-Bolivar,David Bächinger,Alberto M Parra-Perez et al.
Paula Robles-Bolivar et al.
Low-frequency sensorineural hearing loss (SNHL) is a rare hearing impairment affecting frequencies below 1000 Hz, previously associated with DIAPH1, WSF1, MYO7A, TNC, SLC26A4 or CCDC50 genes. By exome sequencing, we report a novel nonsense ...
Exome sequencing for structurally normal fetuses-yields and ethical issues [0.03%]
高结构影像质量胎儿的外显子组测序及其伦理问题
Hagit Daum,Tamar Harel,Talya Millo et al.
Hagit Daum et al.
The yield of chromosomal microarray analysis (CMA) is well established in structurally normal fetuses (0.4-1.4%). We aimed to determine the incremental yield of exome sequencing (ES) in this population. From February 2017 to April 2022, 1,5...
Danielle A Baribeau,Ny Hoang,Thanuja Selvanayagam et al.
Danielle A Baribeau et al.
In children undergoing genetic testing for physical health concerns, we examined how often the results also revealed information about their risk for neurodevelopmental disorders. The study sample consisted of 3056 genetic tests (1686 chrom...
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process [0.03%]
CHRIS研究中的十年动态知情同意：作为动态过程的知情同意
Deborah Mascalzoni,Roberto Melotti,Cristian Pattaro et al.
Deborah Mascalzoni et al.
The Cooperative Health Research in South Tyrol (CHRIS) is a longitudinal study in Northern Italy, using dynamic consent since its inception in 2011. The CHRIS study collects health data and biosamples for research, and foresees regular foll...
Approaching discussions about genetics with palliative patients and their families: a qualitative exploration with genetic health professionals [0.03%]
遗传保健专业人员与姑息治疗患者及其家属讨论遗传问题的方式：质性研究探索
Stephanie White,Erin Turbitt,Jane L Phillips et al.
Stephanie White et al.
Genetic information can provide clinical benefits to families of palliative patients. However, integration of genetics into mainstream medicine has not focused on palliative populations. We explored the views and experiences of genetic heal...
Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate [0.03%]
荷兰药物基因组学工作组关于ABCG2、HLA-B和别嘌呤醇、MTHFR、叶酸和甲氨蝶呤基因药物相互作用的指导原则
Karel H van der Pol,Marga Nijenhuis,Bianca Soree et al.
Karel H van der Pol et al.
The Dutch Pharmacogenetics Working Group (DPWG) aims to facilitate PGx implementation by developing evidence-based pharmacogenetics guidelines to optimize pharmacotherapy. This guideline describes the gene-drug interaction of ABCG2 with all...
Alisdair McNeill
Alisdair McNeill
"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome [0.03%]
弗雷斯综合征发病机制及临床特征的进一步认识——假说：程序性细胞死亡紊乱可能导致弗雷斯综合征患者发病
Lynne Rumping,Raoul C M Hennekam,Mariëlle Alders et al.
Lynne Rumping et al.
Correction to: Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study [0.03%]
关于在脂肪组织中表达的新基因的鉴定这些基因影响身体脂肪量和分布：RNA测序和孟德尔随机化研究的更正
Stefan Konigorski,Jürgen Janke,Giannino Patone et al.
Stefan Konigorski et al.
Published Erratum
European journal of human genetics : EJHG. 2022 Aug 29. DOI:10.1038/s41431-022-01183-x 2022