Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy [0.03%]
纳米孔长读段基因组测序在面肩肱型肌营养不良症胚胎植入前遗传学检测中的应用
Yan Xu,Jiaojiao Wang,Yixin Chen et al.
Yan Xu et al.
Background and objectives: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array at 4q35. Genetic diagnosis is particularly difficult in somatic mosaic cases, where conven...
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights [0.03%]
KIF5C相关神经发育障碍：3例新病例及额外的神经影像学见解
Davide Politano,Simone Gana,Simona Orcesi et al.
Davide Politano et al.
Background and objectives: Pathogenic variants in KIF5C, encoding a neuronal kinesin motor protein, cause a rare neurodevelopmental disorder characterized by profound global developmental delay/intellectual disability mai...
Genetic Risk Factors for Intracerebral Hemorrhage in Populations of East Asian Ancestry [0.03%]
东亚人群中幕上脑出血的遗传危险因素
Yu-Chung Juan,John S Kuo,Hung-Lin Chen et al.
Yu-Chung Juan et al.
Background and objectives: Spontaneous intracerebral hemorrhage (ICH) is a devastating neurologic emergency with high mortality. The distribution of ICH subtypes differs by ancestry, with lobar ICH more prevalent in indiv...
Three Years of a New Multidisciplinary Adult Neurogenetics Clinic in Singapore [0.03%]
新加坡成人神经遗传学多学科综合门诊三年工作经验
Kaavya Narasimhalu,Anushika Raheja,Breana Cham et al.
Kaavya Narasimhalu et al.
Genetic testing in neurology is playing an increasingly important role because of advances in sequencing technologies and the availability of targeted therapeutic options. In Singapore, clinical practice guidelines introduced in 2018 requir...
Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis [0.03%]
RFC1疾病患者的运动、锥体外系和认知损害的系统评价与meta分析
Sara Massucco,Mehrnaz Hamedani,Marta Ponzano et al.
Sara Massucco et al.
Background and objectives: Biallelic intronic repeat expansions in the replication factor C subunit 1 (RFC1) gene are a common cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome and other late-onset ata...
Stratification of Phenotypes in Childhood-Onset COL4A1/COL4A2-Related Disorders Based on Age of Presentation [0.03%]
基于发病年龄的儿童期COL4A1/COL4A2相关疾病的表型分层
Giulia S Porcari,Rudmila N Rashid,Caitlyn A Mulvihill et al.
Giulia S Porcari et al.
Background and objectives: Variants in COL4A1 and COL4A2 are associated with a multisystem disorder characterized by prominent neurologic involvement that includes intracranial hemorrhages, white matter injury, neurodevel...
Julianna N Brutman,Nzinga E Hendricks,Paul N Valdmanis
Julianna N Brutman
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder [0.03%]
HiFi长读测序技术解析TANGO2缺乏症中由逆转录转座子介导的基因组缺失事件
Quentin Sabbagh,Felipe Villa Tobón,Zahra Kazemi et al.
Quentin Sabbagh et al.
Background: TANGO2 deficiency disorder (TDD) is a rare autosomal recessive condition characterized by neurodevelopmental delay, epilepsy, and metabolic crises, mainly caused by recurrent deletions in TANGO2. This study re...
Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers [0.03%]
由功能获得性SCN1A变异引起的诱发性反复性每日盲视及对钠通道阻滞剂的反应性
Sandrine Cestèle,Alexander James Harper,Sebastian Marra et al.
Sandrine Cestèle et al.
Background and objectives: Elicited Repetitive Daily Blindness (ERDB) is a debilitating condition resulting in recurrent, daily episodes of reversible visual loss. ERDB has been described in individuals with Familial Hemi...
Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease [0.03%]
新生儿筛查阳性的婴儿型克氏病的快速反应专家建议
Robert Thompson Stone,Amy L White,Jennifer P Rubin et al.
Robert Thompson Stone et al.
Infantile Krabbe disease (IKD) is a rapidly progressive leukodystrophy for which hematopoietic stem cell transplantation (HCT) offers the only disease-modifying treatment. HCT must occur presymptomatically, ideally by 30 days of life, to op...