Somatic and germinal mosaicism in a Han Chinese family with laminopathies [0.03%]
汉人肢体发育不良综合症家系中的体细胞和生殖细胞镶嵌变异研究
Guangyu Wang,Ying Hou,Xiaoqing Lv et al.
Guangyu Wang et al.
"Laminopathies" refers to a wide spectrum of myopathies caused by mutations in the LMNA gene. These myopathies include limb girdle muscular dystrophy type 1B (LGMD1B) and dilated cardiomyopathy 1 A (DCM1A), which are both autosomal dominant...
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective [0.03%]
嵌合基因panel检测在先天性低促性腺激素性性腺功能减退症分子遗传诊断中的临床应用分析
Yasmin Al Sayed,Sasha R Howard
Yasmin Al Sayed
Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramati...
The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review [0.03%]
大规模基因组筛查或诊断项目的实施：快速证据回顾
Germán Andrés Alarcón Garavito,Thomas Moniz,Noémie Déom et al.
Germán Andrés Alarcón Garavito et al.
Genomic healthcare programmes, both in a research and clinical context, have demonstrated a pivotal opportunity to prevent, diagnose, and treat rare diseases. However, implementation factors could increase overall costs and affect uptake. A...
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines [0.03%]
线粒体疾病的基因检测：英国最佳实践指南
Eleni Mavraki,Robyn Labrum,Kate Sergeant et al.
Eleni Mavraki et al.
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to...
Pathogenic REST variant causing Jones syndrome and a review of the literature [0.03%]
导致Jones综合症的致病REST变异基因及文献回顾
Elisa Rahikkala,Johanna Julku,Sari Koskinen et al.
Elisa Rahikkala et al.
Jones syndrome is a rare dominantly inherited syndrome characterized by gingival fibromatosis and progressive sensorineural hearing loss becoming symptomatic in the second decade of life. Here, we report a father and his two daughters prese...
Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate [0.03%]
CYP2D6和COMT基因与阿托莫西汀和甲基苯丙胺药物相互作用的荷兰药理遗传学工作组(DPWG)指南
Marga Nijenhuis,Bianca Soree,Wafa O M Jama et al.
Marga Nijenhuis et al.
Pharmacogenetics (PGx) studies the effect of heritable genetic variation on drug response. Clinical adoption of PGx has remained limited, despite progress in the field. To promote implementation, the Dutch Pharmacogenetics Working Group (DP...
Non-invasive prenatal testing in Germany: a unique ethical and policy landscape [0.03%]
德国的非侵入性产前检查：独特的伦理和政策格局
Hilary Bowman-Smart,Claudia Wiesemann,Ruth Horn
Hilary Bowman-Smart
Non-invasive prenatal testing (NIPT) has been available commercially in Europe since approximately 2012. Currently, many countries are in the process of integrating NIPT into their publicly funded healthcare systems to screen for chromosoma...
Laurent Christian Asker Melchior Tellier,Nathan Robert Treff,Stephen Dao Hui Hsu et al.
Laurent Christian Asker Melchior Tellier et al.
Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program [0.03%]
全国筛查项目中孕妇的全基因组非侵入性产前检查体验
Karuna R M van der Meij,Qiu Ying F van de Pol,Mireille N Bekker et al.
Karuna R M van der Meij et al.
Pregnant women's perspectives should be included in the dialogue surrounding the expanding offers of non-invasive prenatal testing (NIPT), especially now that technological possibilities are rapidly increasing. This study evaluated women's ...
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations [0.03%]
高分子诊断结果和综合症肛门闭锁的新表型扩张涉及综合征肛门直肠畸形
Raymond Belanger Deloge,Xiaonan Zhao,Pamela N Luna et al.
Raymond Belanger Deloge et al.
Evidence suggests that genetic factors contribute to the development of anorectal malformations (ARMs). However, the etiology of the majority of ARMs cases remains unclear. Exome sequencing (ES) may be underutilized in the diagnostic workup...