Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants [0.03%]
英国10万人基因组计划中家族性高胆固醇血症致病基因变异的频率：对77260名参与者的全基因组测序分析
Marta Futema,Martin Bird,Ash Haeger et al.
Marta Futema et al.
Background: Heterozygous Familial Hypercholesterolaemia (HeFH) is caused by pathogenic variants in LDLR, APOB, APOE or PCSK9, leading to elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In t...
Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience [0.03%]
型I胶原基因不确定意义变异的重新分类：国家级参考实验室的经验
Nurhaziqah Supari,Duncan Baker,Sylvia Keigwin et al.
Nurhaziqah Supari et al.
Background: The availability of large volumes of data from genetic testing has enabled the interpretation of more DNA variants, contributing to a greater number of identified variants of uncertain significance (VUS). The ...
Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension [0.03%]
扩大与MECOM相关综合症的表型谱系：罕见变异与综合征性肺动脉高压有关
Carrie L Welch,Meriel McEntagart,Shahin Moledina et al.
Carrie L Welch et al.
Background: MECOM encodes a developmental and haematopoietic transcription factor associated with a rare early-onset syndrome including bone marrow failure, skeletal and other congenital anomalies. Heterozygous de novo va...
MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect [0.03%]
MITF(p.E318K)与肾细胞癌：目前证据不支持其有影响
Valentin Yves Walker,Hong Nhung Vu,Eiríkur Steingrímsson
Valentin Yves Walker
How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC) [0.03%]
临床医生和父母报告的数据有何不同？来自横跨综合征遗传队列研究（GenROC）数据集的相似性和差异性分析
Karen Jaqueline Low,Huw Day,Mevmi Lasanya Kodippuli Thanthilla;GenROC consortium;Charlotte Davis et al.
Karen Jaqueline Low et al.
Background: Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear. ...
Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings [0.03%]
TTBK1双等位基因突变导致一种严重的综合征性神经发育障碍：两名兄弟姐妹的临床和遗传研究发现
Zehra Manav Yigit,Salih Burak Erarslan,Ayse Tosun et al.
Zehra Manav Yigit et al.
Background: Tau-tubulin kinase 1 (TTBK1) is a neuron-enriched kinase implicated in τ phosphorylation and neurodegeneration. Human phenotypes associated with constitutional TTBK1 variants remain undefined. ...
Dibyendu Dutta,Megan Keeney,Nicole Matthews et al.
Dibyendu Dutta et al.
Background: Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of chromosome 19 have been ass...
Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies [0.03%]
DES变异(p.Glu353dup)导致肌原纤维肌病：临床、计算和功能研究
Sheila Lucia Castañeda,Guadalupe Amin,Maria Ines Freiberger et al.
Sheila Lucia Castañeda et al.
Background: Desmin (DES) is a major intermediate filament protein involved in the structural integrity and function of striated muscles. Pathogenic mutations in DES are predominantly missense variants, causing isolated ca...
Targeting autophagy in Duchenne muscular dystrophy: mechanistic insights and emerging therapeutic strategies [0.03%]
杜氏肌营养不良症中靶向自噬：机制见解和新兴的治疗策略
Lakshmi Krishna,Ananyashree Srivathsa,Rhea Anand et al.
Lakshmi Krishna et al.
Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy characterised by progressive skeletal and cardiac muscle degeneration, loss of ambulation, respiratory failure and premature mortality. Although corticosteroids and gene therap...
Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients [0.03%]
PNKP相关小头畸形表型谱的拓展及27例新患者的临床研究
Ghada M H Abdel-Salam,Mohamed S Abdel-Hamid,Sherif F Abdel-Ghafar et al.
Ghada M H Abdel-Salam et al.
Background: Biallelic pathogenic variants in PNKP are associated with microcephaly and early-onset seizures (MCSZ), ataxia with oculomotor apraxia type 4 and Charcot-Marie-Tooth disease type 2B2. ...