| Towards a therapy for Angelman syndrome by targeting a long non-coding RNA L Meng, AJ Ward, S Chun, CF Bennett, AL Beaudet, F Rigo Nature 518 (7539), 409-412, 2015 | 526 | 2015 |
| Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 429 | 2017 |
| Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 239 | 2019 |
| Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a L Meng, RE Person, AL Beaudet Human molecular genetics 21 (13), 3001-3012, 2012 | 205 | 2012 |
| Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model L Meng, RE Person, W Huang, PJ Zhu, M Costa-Mattioli, AL Beaudet PLoS genetics 9 (12), e1004039, 2013 | 168 | 2013 |
| Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder EA Normand, A Braxton, S Nassef, PA Ward, F Vetrini, W He, V Patel, ... Genome medicine 10, 1-14, 2018 | 151 | 2018 |
| The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel … Y Feng, X Ge, L Meng, J Scull, J Li, X Tian, T Zhang, W Jin, H Cheng, ... Genetics in Medicine 19 (8), 936-944, 2017 | 88 | 2017 |
| Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies H Cheng, AV Dharmadhikari, S Varland, N Ma, D Domingo, R Kleyner, ... The American Journal of Human Genetics 102 (5), 985-994, 2018 | 70 | 2018 |
| A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing Y Cao, MJ Tokita, ES Chen, R Ghosh, T Chen, Y Feng, E Gorman, ... Genome Medicine 11, 1-11, 2019 | 69 | 2019 |
| RNA-dependent RNA polymerase 6 of rice (Oryza sativa) plays role in host defense against negative-strand RNA virus, Rice stripe virus L Jiang, D Qian, H Zheng, LY Meng, J Chen, WJ Le, T Zhou, YJ Zhou, ... Virus research 163 (2), 512-519, 2012 | 69 | 2012 |
| Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 H Cheng, L Gottlieb, E Marchi, R Kleyner, P Bhardwaj, AF Rope, ... Human Molecular Genetics 28 (17), 2900-2919, 2019 | 57 | 2019 |
| Gene-targeting pharmaceuticals for single-gene disorders AL Beaudet, L Meng Human molecular genetics 25 (R1), R18-R26, 2016 | 56 | 2016 |
| Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases AV Dharmadhikari, R Ghosh, BO Yuan, P Liu, H Dai, S Al Masri, J Scull, ... Genome medicine 11, 1-17, 2019 | 54 | 2019 |
| A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ... The American Journal of Human Genetics 100 (2), 343-351, 2017 | 50 | 2017 |
| CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels B Yuan, L Wang, P Liu, C Shaw, H Dai, L Cooper, W Zhu, SA Anderson, ... Genetics in Medicine 22 (10), 1633-1641, 2020 | 44 | 2020 |
| ZMIZ1 variants cause a syndromic neurodevelopmental disorder R Carapito, EL Ivanova, A Morlon, L Meng, A Molitor, E Erdmann, ... The American Journal of Human Genetics 104 (2), 319-330, 2019 | 42 | 2019 |
| Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel T Chiang, X Liu, TJ Wu, J Hu, FJ Sedlazeck, S White, D Schaid, ... Genetics in Medicine 21 (9), 2135-2144, 2019 | 22 | 2019 |
| Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia S Gu, CA Chen, JA Rosenfeld, H Cope, N Launay, KM Flanigan, ... Human mutation 41 (3), 632-640, 2020 | 20 | 2020 |
| Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy L Meng, T Donti, F Xia, Z Niu, A Al Shamsi, J Hertecant, F Al‐Jasmi, ... American Journal of Medical Genetics Part A 173 (2), 460-470, 2017 | 20 | 2017 |
| MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia L Meng, P Isohanni, Y Shao, BH Graham, SE Hickey, S Brooks, ... Annals of neurology 89 (4), 828-833, 2021 | 18 | 2021 |
