| Convergence of genes and cellular pathways dysregulated in autism spectrum disorders | American Journal of Human Genetics | 2014 | 635 |
| Regulation of transcription by long noncoding RNAs | Annual Review of Genetics | 2014 | 318 |
| Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders | Molecular Autism | 2014 | 158 |
| Prevalence and prognostic value of subclinical left ventricular systolic dysfunction by global longitudinal strain in a community-based cohort | European Journal of Heart Failure | 2014 | 133 |
| Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study | JAMA Neurology | 2014 | 129 |
| A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death | Nature Medicine | 2014 | 97 |
| Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease | PLoS ONE | 2014 | 90 |
| A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease | Brain | 2014 | 85 |
| Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome | Human Genetics | 2014 | 85 |
| Missense variant in TREML2 protects against Alzheimer's disease | Neurobiology of Aging | 2014 | 84 |
| Chronic stress, depressive symptoms, anger, hostility, and risk of stroke and transient ischemic attack in the multi-ethnic study of atherosclerosis | Stroke | 2014 | 82 |
| The Role of TGFβ Signaling in Wound Epithelialization | Advances in Wound Care | 2014 | 79 |
| Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration | American Journal of Human Genetics | 2014 | 79 |
| Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels | Alzheimer's Research and Therapy | 2014 | 78 |
| AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission | Journal of Neurodevelopmental Disorders | 2014 | 72 |
| De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis | Human Genetics | 2014 | 71 |
| Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene | Translational Psychiatry | 2014 | 70 |
| Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia | American Journal of Human Genetics | 2014 | 63 |
| Sleep duration is associated with white matter hyperintensity volume in older adults: the Northern Manhattan Study | Journal of Sleep Research | 2014 | 59 |
| Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy | Annals of Neurology | 2014 | 56 |
| High-sensitivity C-reactive protein and interleukin-6-dominant inflammation and ischemic stroke risk: the northern Manhattan study | Stroke | 2014 | 52 |
| Complement activation by ligand-driven juxtaposition of discrete pattern recognition complexes | Proceedings of the National Academy of Sciences of the United States of America | 2014 | 51 |
| Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy | European Journal of Pediatrics | 2014 | 47 |
| Cognitive and motor function in long-duration PARKIN-associated Parkinson disease | JAMA Neurology | 2014 | 43 |
| Update on transcobalamin deficiency: clinical presentation, treatment and outcome | Journal of Inherited Metabolic Disease | 2014 | 42 |
