Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease [0.03%]
与MSUD儿童共同生活： maple syrup尿病菲律宾父母的心理社会问题
Ma-Am Joy R Tumulak,Carmencita D Padilla,Jose Carlo E Ongchangco et al.
Ma-Am Joy R Tumulak et al.
Purpose: Maple syrup urine disease (MSUD) is a common inborn error of metabolism diagnosed in the Philippines. A family may experience stress, anxiety, sorrow, or feelings of helplessness when a child is diagnosed to have...
Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing [0.03%]
利用罕见变异连锁分析和长读测序进行面肩肱型肌营养不良症1型的基因诊断
Kun Li,Daniel Quiat,Fei She et al.
Kun Li et al.
Facioscapulohumeral dystrophy type 1 (FSHD1) is a progressive, debilitating skeletal myopathy that requires a multimodal approach for complete molecular characterization of pathogenic genotypes. Here, we report genomic analyses of a family ...
Next-generation variant exon screening: Moving forward in routine genetic disease investigations [0.03%]
下一代变异外显子筛选：在常规遗传病调查中的应用和发展
Conghui Wang,Panlai Shi,Hongbin Liang et al.
Conghui Wang et al.
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs)...
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements [0.03%]
长读和短读基因组学的结合揭示了21号染色体复杂基因组重排中频繁出现的p臂断点位置
Jakob Schuy,Kristine Bilgrav Sæther,Jasmin Lisfeld et al.
Jakob Schuy et al.
Purpose: Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome). In addition,...
Feasibility of an electronic patient-facing cancer family history tool in medically underserved populations [0.03%]
在医疗资源匮乏的人群中使用患者面向的电子癌症家族史工具的可行性研究
Heather Spencer Feigelson,Kathleen F Mittendorf,Sonia Okuyama et al.
Heather Spencer Feigelson et al.
Purpose: We developed an electronic patient-facing family history collection tool including B-RST 3.0, PREMM5 risk assessments and "limited family knowledge/structure" information designed for primary care settings. We ev...
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum [0.03%]
在一批患有罕见血管畸形或PIK3CA相关过度增生谱系疾病的儿童中提高遗传诊断阳性率
Timothy E Green,Denisse Garza,Natasha J Brown et al.
Timothy E Green et al.
Purpose: Drugs that attenuate hyperactivation of the phosphatidylinositol 3-kinase-Akt and Ras-mitogen-activated protein kinase signaling pathways are emerging treatments for children with rare, intractable vascular anoma...
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome [0.03%]
NSD2功能丧失导致的小鼠DNA甲基化变化类似Wolf-Hirschhorn综合征患者的特征
Tomoko Kawai,Shiori Kinoshita,Yuka Takayama et al.
Tomoko Kawai et al.
Purpose: Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes NSD2, reportedly causes specific DNA methylation signatures in per...
Returning actionable genetic results to participants in the biobank at the Colorado Center for Personalized Medicine and UCHealth [0.03%]
向科罗拉多个性化医学中心和UCHealth生物样本库中的参与者反馈可操作的基因检测结果
Jan T Lowery,Lisen Axell,Lisa Ku et al.
Jan T Lowery et al.
Purpose: To describe our process for returning genetic results to participants in the Colorado Center for Personalized Medicine biobank. Methods: ...
Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder [0.03%]
自然语言处理和专家随访建立了CDKL5缺陷症与心动过速的关联
Alina Ivaniuk,Christian M Boßelmann,Xiaoming Zhang et al.
Alina Ivaniuk et al.
Purpose: CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was shown in animal models but is yet poorly described in CDD co...
Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma [0.03%]
OPTN p.(Asn51Thr)的鉴定：在原发性开角型青光眼中的新型致病突变
Yukihiro Shiga,Kazuki Hashimoto,Kosuke Fujita et al.
Yukihiro Shiga et al.
Purpose: Pathogenic variants in TBK1, MYOC, and OPTN are associated with primary open-angle glaucoma (POAG) with severe visual field defects. This study aims to understand further POAG-related pathogenic variant(s) based ...