| # | Title | Journal | Year | Citations |
|---|
| 1 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Genetics in Medicine | 2015 | 20,455 |
| 2 | Brain-Region-Specific Organoids Using Mini-bioreactors for Modeling ZIKV Exposure | Cell | 2016 | 1,680 |
| 3 | Selective chemical labeling reveals the genome-wide distribution of 5-hydroxymethylcytosine | Nature Biotechnology | 2011 | 955 |
| 4 | Quantitative Proteomics Reveals the Function of Unconventional Ubiquitin Chains in Proteasomal Degradation | Cell | 2009 | 948 |
| 5 | RIP3 mediates the embryonic lethality of caspase-8-deficient mice | Nature | 2011 | 881 |
| 6 | ACMG clinical laboratory standards for next-generation sequencing | Genetics in Medicine | 2013 | 794 |
| 7 | Lysine Propionylation and Butyrylation Are Novel Post-translational Modifications in Histones | Molecular and Cellular Proteomics | 2007 | 639 |
| 8 | Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway | Nature Neuroscience | 2004 | 571 |
| 9 | Temporal Control of Mammalian Cortical Neurogenesis by m6A Methylation | Cell | 2017 | 567 |
| 10 | Powerful SNP-Set Analysis for Case-Control Genome-wide Association Studies | American Journal of Human Genetics | 2010 | 541 |
| 11 | The transcriptional landscape of age in human peripheral blood | Nature Communications | 2015 | 533 |
| 12 | Genome-wide Profiling of 5-Formylcytosine Reveals Its Roles in Epigenetic Priming | Cell | 2013 | 502 |
| 13 | Huntingtin–protein interactions and the pathogenesis of Huntington's disease | Trends in Genetics | 2004 | 479 |
| 14 | The prolyl isomerase Pin1 regulates amyloid precursor protein processing and amyloid-β production | Nature | 2006 | 444 |
| 15 | Relative and Absolute Quantification of Postsynaptic Density Proteome Isolated from Rat Forebrain and Cerebellum | Molecular and Cellular Proteomics | 2006 | 440 |
| 16 | Semiquantitative Proteomic Analysis of Rat Forebrain Postsynaptic Density Fractions by Mass Spectrometry | Journal of Biological Chemistry | 2004 | 417 |
| 17 | Role of the prolyl isomerase Pin1 in protecting against age-dependent neurodegeneration | Nature | 2003 | 412 |
| 18 | Microarray-based genomic selection for high-throughput resequencing | Nature Methods | 2007 | 374 |
| 19 | Identification of Neuronal RNA Targets of TDP-43-containing Ribonucleoprotein Complexes | Journal of Biological Chemistry | 2011 | 366 |
| 20 | Direct Comparisons of Illumina vs. Roche 454 Sequencing Technologies on the Same Microbial Community DNA Sample | PLoS ONE | 2012 | 360 |
| 21 | Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles | American Journal of Human Genetics | 2003 | 345 |
| 22 | RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila | Neuron | 2003 | 344 |
| 23 | Sodium channel SCN1A and epilepsy: Mutations and mechanisms | Epilepsia | 2010 | 338 |
| 24 | RNA and microRNAs in fragile X mental retardation | Nature Cell Biology | 2004 | 324 |
| 25 | Adenosine A2A receptor mediates microglial process retraction | Nature Neuroscience | 2009 | 307 |
| 26 | Epitranscriptomic m6A Regulation of Axon Regeneration in the Adult Mammalian Nervous System | Neuron | 2018 | 292 |
| 27 | Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways † | Human Molecular Genetics | 2007 | 290 |
| 28 | Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing | Genetics in Medicine | 2015 | 288 |
| 29 | Glutamate Dehydrogenase 1 Signals through Antioxidant Glutathione Peroxidase 1 to Regulate Redox Homeostasis and Tumor Growth | Cancer Cell | 2015 | 269 |
| 30 | The DREADD agonist clozapine N-oxide (CNO) is reverse-metabolized to clozapine and produces clozapine-like interoceptive stimulus effects in rats and mice | Scientific Reports | 2018 | 261 |
| 31 | Autophosphorylated CaMKIIα Acts as a Scaffold to Recruit Proteasomes to Dendritic Spines | Cell | 2010 | 249 |
| 32 | Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila | Nature Chemical Biology | 2008 | 248 |
| 33 | Testing in Microbiome-Profiling Studies with MiRKAT, the Microbiome Regression-Based Kernel Association Test | American Journal of Human Genetics | 2015 | 248 |
| 34 | Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins | Molecular Biology of the Cell | 2011 | 237 |
| 35 | Inference on Haplotype Effects in Case-Control Studies Using Unphased Genotype Data | American Journal of Human Genetics | 2003 | 235 |
| 36 | Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project | Genetics in Medicine | 2008 | 232 |
| 37 | Norepinephrine: The redheaded stepchild of Parkinson's disease | Biochemical Pharmacology | 2007 | 225 |
| 38 | C3PO, an Endoribonuclease That Promotes RNAi by Facilitating RISC Activation | Science | 2009 | 220 |
| 39 | Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABA B Receptors with Arbaclofen | Science Translational Medicine | 2012 | 217 |
| 40 | Methylation quantitative trait loci (meQTLs) are consistently detected across ancestry, developmental stage, and tissue type | BMC Genomics | 2014 | 217 |
| 41 | Dysbiosis, inflammation, and response to treatment: a longitudinal study of pediatric subjects with newly diagnosed inflammatory bowel disease | Genome Medicine | 2016 | 211 |
| 42 | Prolyl 4-hydroxylation regulates Argonaute 2 stability | Nature | 2008 | 210 |
| 43 | Human LSD2/KDM1b/AOF1 Regulates Gene Transcription by Modulating Intragenic H3K4me2 Methylation | Molecular Cell | 2010 | 209 |
| 44 | Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 | Nature Genetics | 2011 | 209 |
| 45 | ACMG position statement on prenatal/preconception expanded carrier screening | Genetics in Medicine | 2013 | 207 |
| 46 | A Powerful and Flexible Multilocus Association Test for Quantitative Traits | American Journal of Human Genetics | 2008 | 206 |
| 47 | Detection of differentially methylated regions from whole-genome bisulfite sequencing data without replicates | Nucleic Acids Research | 2015 | 203 |
| 48 | Examination of reproductive aging milestones among women who carry the FMR1premutation | Human Reproduction | 2007 | 202 |
| 49 | Altered Function of the SCN1A Voltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities | Journal of Biological Chemistry | 2010 | 200 |
| 50 | Cytogenetic and molecular characterization of A2BP1 / FOX1 as a candidate gene for autism | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics | 2007 | 192 |
