Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation [0.03%]
EIF3K同功变异与神经发育迟缓、小头畸形和生长迟缓相关性研究
Bobbi McGivern,Tess Holling,Maria J Guillen Sacoto et al.
Bobbi McGivern et al.
We report two rare homozygous variants, including a recurrent missense and intronic variant, in the EIF3K gene in four unrelated individuals with global developmental delay, microcephaly, proportionate short stature, dysmorphic craniofacial...
Advancing Genetic Services in African Healthcare: Challenges, Opportunities, and Strategic Insights from a Scoping Review [0.03%]
非洲医疗保健中基因服务的发展：一次综述研究中的挑战、机遇和战略见解
Karen Kengne Kamga,Pallissa Fonkam Marlyse,Seraphin Nguefack et al.
Karen Kengne Kamga et al.
The implementation of genetic medicine services in African healthcare systems is a complex process that presents both challenges and opportunities. The primary objective of this study is to provide evidence-based recommendations to policyma...
Anna Ivanova,Elena Korchivaia,Maria Semenova et al.
Anna Ivanova et al.
Chromosomal abnormalities in human preimplantation embryos, originating from either meiotic or mitotic errors, present a significant challenge in reproductive biology. Complete aneuploidy is primarily linked to errors during the resumption ...
Multi-tissue transcriptome-wide association study identifies novel candidate susceptibility genes and pleiotropy effects across four abdominal hernia subtypes [0.03%]
多组织转录体广泛关联研究确定了四种腹疝亚型的新的候选易感基因和遗传效应的多样性
Dima L Chaar,Chen Jiang,Brandon Cowan et al.
Dima L Chaar et al.
Abdominal hernias are caused by the protrusion of an organ or tissue through a weakened abdominal wall. Genome-wide association studies (GWAS) have identified 81 genetic susceptibility loci for different hernia subtypes, with 26 loci associ...
Allele-specific silencing of a dominant SETX mutation in familial amyotrophic lateral sclerosis type 4 [0.03%]
家族性侧索硬化病4型显性SETX突变的等位基因特异性沉默作用
Audrey Winkelsas,Athena Apfel,Brian Johnson et al.
Audrey Winkelsas et al.
Amyotrophic lateral sclerosis 4 (ALS4) is an autosomal dominant motor neuron disease that is molecularly characterized by reduced R-loop levels and caused by pathogenic variants in senataxin (SETX). SETX encodes an RNA/DNA helicase that res...
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease [0.03%]
通过基因组测序在疑似罕见病个体中识别多种分子诊断结果
Alka Malhotra,Erin Thorpe,Alison J Coffey et al.
Alka Malhotra et al.
Genome sequencing is a powerful and comprehensive test that detects multiple variants of different types. The interrogation of variants across the genome enables the identification of multiple molecular diagnoses (MMDs) in a single individu...
Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene [0.03%]
POC1B基因纯合p.Arg106Pro突变的Joubert综合征家族中的重症是由于CEP290基因内的隐性深内含子突变所致
Christian Betz,Björn Reusch,Thomas Langmann et al.
Christian Betz et al.
'En bloc' inheritance of point mutations in adjacent genes has rarely been described. We have previously reported a family with severe, mostly early-lethal, Joubert syndrome (JBTS) with early-onset severe retinal dystrophy (EOSRD) and polyc...
Enhancing Polygenic Scores for Cardiometabolic Traits Through Tissue- and Cell Type-Specific Functional Annotations [0.03%]
通过组织和细胞类型特异性功能注释提高心脏代谢性状的多基因评分
Kristjan Norland,Daniel J Schaid,Iftikhar J Kullo
Kristjan Norland
Functional genomic annotations can improve polygenic scores (PGS) within and between genetic ancestry groups. While general annotations are commonly used in PGS development, tissue- and cell type-specific annotations derived from open chrom...
Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men [0.03%]
揭开非洲男性雄性脱发的遗传构架和进化根源
Rohini Janivara,Ujani Hazra,Aaron Pfennig et al.
Rohini Janivara et al.
Androgenetic alopecia is a highly heritable trait. However, much of our understanding about the genetics of male pattern baldness comes from individuals of European descent. Here, we examined a dataset comprising 2,136 men from Ghana, Niger...
Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies [0.03%]
KCTD10中新生变异的识别作为多种先天性异常的可能原因
Michelle M Morrow,Erin Torti,Bobbi McGivern et al.
Michelle M Morrow et al.
To date, the KCTD10 gene (MIM# 608726) has not been definitively associated with a human disease, although studies in animal models suggest that it plays a role in embryonic development. We have identified multiple unrelated individuals wit...