| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease | Nature Genetics | 2014 | 1.3K |
| 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 |
| Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success | Genes | 2014 | 160 |
| Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders | Molecular Autism | 2014 | 158 |
| Fragile X syndrome: a review of associated medical problems | Pediatrics | 2014 | 138 |
| 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 |
| 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 |
| 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 |
| Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy | American Journal of Human Genetics | 2014 | 77 |
| 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 |
| 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 |
| Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations | American Journal of Medical Genetics, Part A | 2014 | 57 |
| Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy | Annals of Neurology | 2014 | 56 |
| Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier | Brain | 2014 | 54 |
| 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 |
| Lipoprotein-associated phospholipase A2 is associated with atherosclerotic stroke risk: the Northern Manhattan Study | PLoS ONE | 2014 | 41 |
