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Author Details

Linyan Meng
2004
32
19
PMIDPaper TitleJournal TitlePublished Year
36939041Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.Genet Med2023
37517035Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Brain2023
37196654The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Am J Hum Genet2023
34837432Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.Human Mutation2022
36065636Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.Am J Med Genet A2022
35395838Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ Genom Med2022
34906496Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.Genet Med2022
34587367Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.Mol Genet Genomic Med2021
33443317MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.Ann Neurol2021
34876591De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.NPJ Genom Med2021
31879022ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.Am J Hum Genet2020
32576985CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.Genet Med2020
32027362Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.Hum Mol Genet2020
31349857A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.Genome Med2019
31216405Reanalysis of Clinical Exome Sequencing Data.N Engl J Med2019
31101064Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.Genome Med2019
30890783Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.Genet Med2019
30639322ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.Am J Hum Genet2019
29656860Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.Am J Hum Genet2018
30266093Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.Genome Med2018
27860360Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.Am J Med Genet A2017
28973083Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.JAMA Pediatr2017
28132692A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Am J Hum Genet2017
28125085The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.Genet Med2017
26628634Gene-targeting pharmaceuticals for single-gene disorders.Hum Mol Genet2016
25470045Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.Nature2015
24385930Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.PLoS Genet2013
22493002Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.Hum Mol Genet2012
18346499The Pediatric Respiratory Assessment Measure: a valid clinical score for assessing acute asthma severity from toddlers to teenagers.Journal of Pediatrics2008
17216559Social skills training for adolescents with Asperger syndrome and high-functioning autism.J Autism Dev Disord2007
16818529Pervasive developmental disorders in Montreal, Quebec, Canada: prevalence and links with immunizations.Pediatrics2006
15113435Validation of the diagnosis of autism in general practitioner records.BMC Public Health2004
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