Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists [0.03%]
ACMG次要发现在内的拷贝数变异的临床细胞遗传学报告框架
Mahmoud Aarabi,Helia Darabi,Aryan Bashar et al.
Mahmoud Aarabi et al.
Purpose: To determine the pathogenicity and frequency of copy-number variants (CNV) in the 81 secondary finding (SFv3.2) genes recommended by the American College of Medical Genetics and Genomics (ACMG). ...
Abhinav Thummala,Rhea Sudhakaran,Anoop Gurram et al.
Abhinav Thummala et al.
Purpose: A primary challenge in clinical genetics is accurate interpretation of identified variants and relaying the information to patients and providers. Inconsistencies around handling variant reclassifications and not...
Expanded-access use of elamipretide in a critically ill patient with Barth syndrome [0.03%]
巴尔特综合征危重患者的依拉前列醇扩大使用体验报告
Amy C Goldstein,Cassandra Pantano,Mariya Redko et al.
Amy C Goldstein et al.
Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations [0.03%]
全球及特定人群中鞘氨醇-1-磷酸裂解酶不足综合征的患病率估计数值
Joni C Sedillo,Chansonette Badduke,Steven J Schrodi et al.
Joni C Sedillo et al.
Purpose: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a rare, often fatal, metabolic disorder and monogenic form of steroid-resistant nephrotic syndrome. Other manifestations include primary adrenal insuf...
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population [0.03%]
铁氧化还原蛋白还原酶相关线粒体病的临床研究：基因型-表型相关性及墨西哥人群中基于族裔背景的携带者筛查建议
Teresa Campbell,Jesse Slone,Hallie Metzger et al.
Teresa Campbell et al.
Purpose: Ferredoxin reductase (FDXR) is a flavoprotein that functions in both iron sulfur cluster biogenesis and steroid biosynthesis pathways in the mitochondria. Not surprisingly, loss of FDXR function causes severe mit...
Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8 [0.03%]
位于SYNE1基因内含子中的Alu插入序列与常染色体隐性遗传的脊髓小脑共济失调8型相关性的鉴定研究
Maryse Gagnon,Nadia Bouhamdani,Dimiter P Kolev et al.
Maryse Gagnon et al.
Health-related quality of life in patients with diverse rare diseases: An online survey [0.03%]
罕见疾病患者的健康相关生活质量：一项在线调查研究
Anoushka Rao,Megan Yabumoto,Eliana Ward-Lev et al.
Anoushka Rao et al.
Purpose: Rare diseases substantially contribute to population morbidity and mortality. Understanding rare disease health-related quality of life (HRQL) is essential for evaluating platform-based interventions that aim to ...
PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients [0.03%]
PMS2CL干扰导致黑人患者致病性PMS2变异识别错误
Jacqueline Cappadocia,Lisa B Aiello,Michael J Kelley et al.
Jacqueline Cappadocia et al.
This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2 racially diverse cohorts. We identified clinical reports of the PMS2 c.2523G>A p....
Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective [0.03%]
整合临床心血管遗传学推动精准医学的发展——亚洲视角
Iswaree D Balakrishnan,Yasmin Bylstra,Nikki Fong et al.
Iswaree D Balakrishnan et al.
Purpose: The integration of cardiovascular genetic (CVG) testing into clinical practice is gaining recognition, but its implementation in the Asian setting has not been widely reported. We present our experience developin...
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD [0.03%]
日本IRD患者的全基因组测序揭示了RPGRIP1同源结构变异与先天性色盲的关联
Akiko Suga,Kei Mizobuchi,Taiga Inooka et al.
Akiko Suga et al.
Purpose: Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) and by ATF6, a transcription factor with ubiquitous expression. To im...