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Linyan Meng

Showing results (11-20 of 42) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine Open|February 4, 2025
Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencingYoubao Sha, J Bryce Ortiz, Sara L Bristow, et al.
Human Mutation|May 9, 2020
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditionsMarie Balzotti, Linyan Meng, Dale Muzzey, et al.
Frontiers in Genetics|March 20, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosisElizabeth Gorman, Hongzheng Dai, Yanming Feng, et al.
Molecular Genetics & Genomic Medicine|September 29, 2021
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patientsLei Wang, Pengfei Liu, Weimin Bi, et al.
Prenatal Diagnosis|May 27, 2025
Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for StillbirthRoni Zemet, Christian M Parobek, April D Adams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2023
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryLinyan Meng, Ruben Attali, Tomer Talmy, et al.
American Journal of Medical Genetics. Part A|November 19, 2016
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophyLinyan Meng, Taraka Donti, Fan Xia, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
NPJ Genomic Medicine|June 5, 2026
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomesXiaonan Zhao, Robert Rigobello, Morgan Driver, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine Open|February 4, 2025
Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencingYoubao Sha, J Bryce Ortiz, Sara L Bristow, et al.
Human Mutation|May 9, 2020
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditionsMarie Balzotti, Linyan Meng, Dale Muzzey, et al.
Frontiers in Genetics|March 20, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosisElizabeth Gorman, Hongzheng Dai, Yanming Feng, et al.
Molecular Genetics & Genomic Medicine|September 29, 2021
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patientsLei Wang, Pengfei Liu, Weimin Bi, et al.
Prenatal Diagnosis|May 27, 2025
Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for StillbirthRoni Zemet, Christian M Parobek, April D Adams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2023
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryLinyan Meng, Ruben Attali, Tomer Talmy, et al.
American Journal of Medical Genetics. Part A|November 19, 2016
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophyLinyan Meng, Taraka Donti, Fan Xia, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
NPJ Genomic Medicine|June 5, 2026
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomesXiaonan Zhao, Robert Rigobello, Morgan Driver, et al.
Pageof 5