170 results on '"Meng, Linyan"'
Search Results
2. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
3. Best practices for the interpretation and reporting of clinical whole genome sequencing
4. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
5. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
6. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
7. Family-Based Next-Generation Sequencing Analysis
8. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
9. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
10. P730: Development of comprehensive gene-/disease-specific analysis and knowledgebase to enhance the efficiency and accuracy of sequence variant interpretation and clinical reporting
11. P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases
12. P681: Carrier screening with the ACMG 113: An early look and new insights
13. P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders
14. O02: Pathogenicity mechanism and gene therapy of hereditary spastic paraplegia caused by recurrent UBAP1 variant
15. Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
16. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
17. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
18. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
19. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
20. Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis
21. Synthesis of sulfonated (ether ether ketone) based membranes containing poly(4-styrenesulfonic acid) and its excellent performance for direct methanol fuel cells
22. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy
23. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
24. Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis
25. eP474: Prenatal exome sequencing analysis in the clinical setting of fetuses with structural anomalies or increased nuchal translucency
26. eP421: Development of an in-house whole transcriptome test for evaluation of splicing VUS variants: Experience and challenges in variant interpretation
27. eP337: Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology
28. OP039: Best practices for the interpretation and reporting of clinical genome sequencing
29. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
30. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods
31. MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
32. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients
33. MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
34. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods.
35. Functional characterization of recurrent truncating variant in UBAP1 associated with hereditary spastic paraplegia
36. Genetic diagnoses of arthrogryposis by clinical exome or microarray and identification of a new candidate gene: ICE1
37. Social Skills Training for Adolescents with Asperger Syndrome and High-Functioning Autism
38. MED27Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
39. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
40. Cover, Volume 41, Issue 8
41. Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions
42. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
43. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
44. The Pediatric Respiratory Assessment Measure: A Valid Clinical Score for Assessing Acute Asthma Severity from Toddlers to Teenagers
45. Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia
46. Reanalysis of Clinical Exome Sequencing Data
47. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
48. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
49. Validation of the diagnosis of autism in general practitioner records
50. Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.
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