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Linyan Meng · SciRah

Researcher profile · Semantic Scholar

Linyan Meng

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Linyan Meng — researcher profile on SciRah

h-index: 23
Works: 48
Citations: 2,577

Most-cited papers

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng, M. Pammi, Anirudh Saronwala, P. Magoulas +50 more
2017JAMA pediatrics417 citations Open access
Semantic Scholar
Towards a therapy for Angelman syndrome by reduction of a long non-coding RNA
Linyan Meng, Amanda J. Ward, S. Chun, C. Bennett +2 more
2014Nature346 citations Open access
Semantic Scholar
Reanalysis of Clinical Exome Sequencing Data
Peng-Fei Liu, Linyan Meng, Elizabeth A. Normand, F. Xia +48 more
2019New England Journal of Medicine245 citations Open access
Semantic Scholar
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.
Linyan Meng, R. Person, A. Beaudet
2012Human Molecular Genetics200 citations Open access
Semantic Scholar
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Elizabeth A. Normand, Alicia A. Braxton, Salma Nassef, P. Ward +20 more
2018Genome Medicine170 citations Open access
Semantic Scholar
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model
Linyan Meng, R. Person, Wei Huang, P. Zhu +2 more
2013PLoS Genetics155 citations Open access
Semantic Scholar
Best practices for the interpretation and reporting of clinical whole genome sequencing
C. Austin-Tse, V. Jobanputra, D. Perry, D. Bick +19 more
2022npj Genomic Medicine134 citations Open access
Semantic Scholar
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Hanyin Cheng, A. Dharmadhikari, Sylvia Varland, Ning Ma +68 more
2018American Journal of Human Genetics85 citations Open access
Semantic Scholar
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
Yan-Ming Feng, Xiaoyan Ge, Linyan Meng, J. Scull +23 more
2017Genetics in Medicine85 citations Open access
Semantic Scholar
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hanyin Cheng, L. Gottlieb, E. Marchi, Robert Kleyner +25 more
2019Human Molecular Genetics62 citations Open access
Semantic Scholar
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, M. Tokita, E. Chen, R. Ghosh +17 more
2019Genome Medicine57 citations Open access
Semantic Scholar
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
A. Dharmadhikari, R. Ghosh, Bo Yuan, Peng-Fei Liu +31 more
2019Genome Medicine55 citations Open access
Semantic Scholar
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
Bo Yuan, Lei Wang, Peng-Fei Liu, C. Shaw +27 more
2020Genetics in Medicine54 citations Open access
Semantic Scholar
AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders
Dongxue Mao, Chaozhong Liu, Lin-Hua Wang, Rami AI-Ouran +19 more
2024NEJM AI50 citations Open access
Semantic Scholar
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
K. Schoch, Linyan Meng, S. Szelinger, D. Bearden +36 more
2017American Journal of Human Genetics45 citations Open access
Semantic Scholar
Evaluation of an Automated Genome Interpretation Model for Rare Disease Routinely Used in a Clinical Genetic Lab.
Linyan Meng, Ruben Attali, T. Talmy, Yakir Regev +11 more
2023Genetics in Medicine40 citations
Semantic Scholar
Gene-targeting pharmaceuticals for single-gene disorders.
A. Beaudet, Linyan Meng
2016Human Molecular Genetics40 citations Open access
Semantic Scholar
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
R. Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng +55 more
2019American Journal of Human Genetics30 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
R. Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng +55 more
2019American Journal of Human Genetics26 citations Open access
Semantic Scholar
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
V. Okur, Ze-Fu Chen, Liesbeth Vossaert, S. Peacock +34 more
2021npj Genomic Medicine25 citations Open access
Semantic Scholar
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
Linyan Meng, P. Isohanni, Yunru Shao, B. Graham +41 more
2021Annals of Neurology25 citations Open access
Semantic Scholar
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
T. Chiang, Xiu-Ping Liu, Tsung-Jung Wu, Jian-Hong Hu +26 more
2018Genetics in Medicine24 citations Open access
Semantic Scholar
Ube 3 a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube 3 a
Linyan Meng, R. Person, A. Beaudet
201223 citations
Semantic Scholar
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
R. Maroofian, R. Kaiyrzhanov, Elisa Calì, M. Zamani +82 more
2023Brain : a journal of neurology22 citations Open access
Semantic Scholar
Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy
Linyan Meng, T. Donti, F. Xia, Z. Niu +10 more
2017American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies
Chun-An Chen, John Lattier, Wenmiao Zhu, J. Rosenfeld +27 more
2021Genetics in Medicine18 citations Open access
Semantic Scholar
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hanyin Cheng, L. Gottlieb, E. Marchi, Robert Kleyner +25 more
2020Human Molecular Genetics17 citations Open access
Semantic Scholar
Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions
M. Balzotti, Linyan Meng, D. Muzzey, K. J. Johansen Taber +6 more
2019Human Mutation17 citations Open access
Semantic Scholar
Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
D. McKnight, Lora J. H. Bean, I. Karbassi, K. Beattie +14 more
2021Human Mutation16 citations Open access
Semantic Scholar
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
V. Jobanputra, B. Schroeder, H. Rehm, Wei Shen +9 more
2024npj Genomic Medicine15 citations Open access
Semantic Scholar
Human Mutation
Shen Gu, Chun, Anan Chen, J. Rosenfeld +15 more
202013 citations
Semantic Scholar
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients
Lei Wang, Peng-Fei Liu, W. Bi, Teresa Sim +9 more
2021Molecular Genetics & Genomic Medicine9 citations Open access
Semantic Scholar
Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing
You-Bao Sha, J. Ortiz, S. Bristow, K. Loranger +6 more
2024Genetics in medicine open6 citations
Semantic Scholar
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: a retrospective analysis
Runjun D. Kumar, Linyan Meng, Peng-Fei Liu, C. Miyake +3 more
2022American Journal of Medical Genetics. Part A6 citations Open access
Semantic Scholar
Abstract IA28: Towards a therapy for Angelman syndrome by targeting a long noncoding RNA to active UBE3A
Linyan Meng, A. Ward, C. Bennett, A. Beaudet +1 more
20164 citations
Semantic Scholar
Diagnostic yield of exome sequencing for pregnancies with and without fetal anomalies and for stillbirth
R. Zemet, C. Parobek, April D. Adams, M. Maktabi +8 more
2025Prenatal Diagnosis3 citations
Semantic Scholar
OP039: Best practices for the interpretation and reporting of clinical genome sequencing
C. Austin-Tse, V. Jobanputra, D. Perry, D. Bick +19 more
2022Genetics in Medicine1 citations Open access
Semantic Scholar
A giant ankyrin-B mechanism for neuro-diversity/divergence through stochastic ectopic axon projections
Rui Yang, Kathryn K. Walder-Christensen, Namsoo Kim, Danwei Wu +10 more
20181 citations Open access
Semantic Scholar
Oral Abstracts of the ISPD 20th International Conference on Prenatal Diagnosis and Therapy, Berlin, Germany, 10–13 July 2016
M. Walkiewicz, Alicia A. Braxton, Peng-Fei Liu, F. Xia +30 more
2016Prenatal Diagnosis1 citations Open access
Semantic Scholar
Best practices for the interpretation and reporting of clinical whole genome sequencing
C. Austin-Tse, V. Jobanputra, D. Perry, D. Bick +19 more
2022npj Genomic Medicine0 citations Open access
Semantic Scholar
eP337: Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology
Hongzheng Dai, Liesbeth Vossaert, Xiao-Nan Zhao, K. Schulze +7 more
2022Genetics in Medicine0 citations Open access
Semantic Scholar
eP421: Development of an in-house whole transcriptome test for evaluation of splicing VUS variants: Experience and challenges in variant interpretation
Xiao-Nan Zhao, Chung-Wah Wu, Yanchun Li, A. Omer +5 more
2022Genetics in Medicine0 citations Open access
Semantic Scholar
Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis.
Runjun D. Kumar, Linyan Meng, Peng-Fei Liu, Christina Y. Miyake +3 more
2022medRxiv0 citations Open access
Semantic Scholar
eP474: Prenatal exome sequencing analysis in the clinical setting of fetuses with structural anomalies or increased nuchal translucency
Roni Zemet Lazar, Linyan Meng, Peng-Fei Liu, Hongzheng Dai +4 more
2022Genetics in Medicine0 citations Open access
Semantic Scholar
Functional characterization of recurrent truncating variant in UBAP1 associated with hereditary spastic paraplegia
N. Ho, Linyan Meng, Shen Gu
2021Molecular Genetics and Metabolism0 citations
Semantic Scholar
Genetic diagnoses of arthrogryposis by clinical exome or microarray and identification of a new candidate gene: ICE1
N. Owen, Hanyin Cheng, J. Rosenfeld, Salma Nassef +10 more
20210 citations
Semantic Scholar
Family-Based Next-Generation Sequencing Analysis
Xia Wang, Linyan Meng, Magalie S Leduc
20170 citations
Semantic Scholar

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