CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening.

2020-10-9

Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.

2024-5-17

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

2006-12-1

Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation.

TTN变异及早期房颤患者中心肌病患病率超过30%。

2023-1-10

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

2017-1-26

Evaluating Reproductive Carrier Screening using Biotinidase Deficiency as a Model: Variants Identified, Variant Rates and Management.

评估以生物素酶缺乏症为模型的生殖载体筛查：鉴定出的变异、变异率和处理方法。

2024-12-1

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

脊髓性肌萎缩症在基因组、外显子和panel测序数据中的漏诊分析

2024-12-1

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

GTF3C3双等位基因变异导致智力障碍的常染色体隐性遗传病

2024-12-1

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

苯丙氨酸羟化酶缺乏症的诊断与管理：2023年美国医学遗传学与基因组学学会（ACMG）基于证据的临床指南

2024-12-1

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

ATM基因杂合致病变异个体的管理：美国医学遗传学与基因组学学院（ACMG）临床实践资源

2024-12-1