An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history [0.03%]
关于西班牙研究在孟德尔障碍影响家庭中的次要发现：选择，发生率和家庭病史
Marta Codina-Solà,Laura Trujillano,Anna Abulí et al.
Marta Codina-Solà et al.
Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing...
Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard [0.03%]
从一个盖尔中世纪墓地发现存在一千多年的致病性米德尔遗传突变与多发性骨软骨瘤有关
Iseult Jackson,Valeria Mattiangeli,Lara M Cassidy et al.
Iseult Jackson et al.
Only a limited number of genetic diseases are diagnosable in archaeological individuals and none have had causal mutations identified in genome-wide screens. Two individuals from the Gaelic Irish Medieval burial ground of Ballyhanna, Co. Do...
Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction between UGT1A1 and irinotecan [0.03%]
UGT1A1和伊立替康之间基因-药物相互作用的荷兰药理遗传学工作组(DPWG)指南
Emma C Hulshof,Maarten J Deenen,Marga Nijenhuis et al.
Emma C Hulshof 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 starting dose optimization of the anti-...
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG [0.03%]
可变数量串联重复序列（VNTR）作为修饰BRCA1 185delAG携带者乳腺癌风险的因子
Yuan Chun Ding,Aaron W Adamson,Mehrdad Bakhtiari et al.
Yuan Chun Ding et al.
Despite substantial efforts in identifying both rare and common variants affecting disease risk, in the majority of diseases, a large proportion of unexplained genetic risk remains. We propose that variable number tandem repeats (VNTRs) may...
Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research [0.03%]
儿科基因组测序家庭层面效益的关键驱动因素：支持偏好研究的定性分析
Hadley Stevens Smith,Emily S Bonkowski,Raymond Belanger Deloge et al.
Hadley Stevens Smith et al.
Given that pediatric genomic sequencing (GS) may have implications for the health and well-being of both the child and family, a clearer understanding of the key drivers of the utility of GS from the family perspective is needed. The purpos...
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants [0.03%]
赖氨酸特异性去甲基化酶5C (KDM5C) 的遗传学和表型谱系的扩展：13种新型变异的报告
Emanuela Leonardi,Maria Cristina Aspromonte,Denise Drongitis et al.
Emanuela Leonardi et al.
Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders (NDDs). The KDM5C gene, located in the Xp22 chromosomal region, encodes the H3K4me3-...
The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening [0.03%]
熟能生巧：运用行为改变理论支持 healthcare 专业人员进行生殖遗传携带者筛查
Stephanie Best,Janet C Long,Zoe Fehlberg et al.
Stephanie Best et al.
Recent advances in genomic sequencing have improved the accessibility of reproductive genetic carrier screening (RGCS). As awareness and interest grows, non-genetic health care professionals are increasingly offering RGCS to consumers. We c...
The role of TBX18 in congenital heart defects in humans not confirmed [0.03%]
TBX18在人类先天性心脏缺陷中的作用未被证实
Aafke Engwerda,Kristin M Abbott,Marrit M Hitzert et al.
Aafke Engwerda et al.
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands [0.03%]
FarGen：阐明法罗群岛隔离人群中编码变异的分布情况
Ólavur Mortensen,Elisabet Thomsen,Leivur N Lydersen et al.
Ólavur Mortensen et al.
Here we present results from FarGen Phase I exomes. This dataset is based on the FarGen cohort, which consists of 1,541 individuals from the isolated population of the Faroe Islands. The purpose of this cohort is to serve as a reference cat...
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype [0.03%]
携带Arg1809替换且无脉络膜异常的患者：“准不完全”NF1表型的进一步证据
Claudia Santoro,Rosa Boccia,Claudio Iovino et al.
Claudia Santoro et al.