| Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report JF Arboleda-Velasquez, F Lopera, M O’Hare, S Delgado-Tirado, C Marino, ... Nature medicine 25 (11), 1680-1683, 2019 | 424 | 2019 |
| Comparative analysis of 16S rRNA gene and metagenome sequencing in pediatric gut microbiomes D Peterson, KS Bonham, S Rowland, CW Pattanayak, ... Frontiers in microbiology 12, 670336, 2021 | 92 | 2021 |
| Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases FM De La Vega, S Chowdhury, B Moore, E Frise, J McCarthy, ... Genome Medicine 13, 1-19, 2021 | 73 | 2021 |
| Transcriptome response of human skeletal muscle to divergent exercise stimuli JM Dickinson, AC D’Lugos, MA Naymik, AL Siniard, AJ Wolfe, DR Curtis, ... Journal of Applied Physiology 124 (6), 1529-1540, 2018 | 72 | 2018 |
| Maternal choline supplementation ameliorates Alzheimer’s disease pathology by reducing brain homocysteine levels across multiple generations R Velazquez, E Ferreira, W Winslow, N Dave, IS Piras, M Naymik, ... Molecular psychiatry 25 (10), 2620-2629, 2020 | 69 | 2020 |
| Rare de novo missense variants in RNA helicase DDX6 cause intellectual disability and dysmorphic features and lead to P-body defects and RNA dysregulation C Balak, M Benard, E Schaefer, S Iqbal, K Ramsey, M Ernoult-Lange, ... The American Journal of Human Genetics 105 (3), 509-525, 2019 | 53 | 2019 |
| DNA methylation and expression profiles of whole blood in Parkinson’s disease AR Henderson, Q Wang, B Meechoovet, AL Siniard, M Naymik, ... Frontiers in Genetics 12, 640266, 2021 | 44 | 2021 |
| Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors JS Talboom, A Håberg, MD De Both, MA Naymik, I Schrauwen, CR Lewis, ... Elife 8, e46179, 2019 | 32 | 2019 |
| De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness I Schrauwen, E Kari, J Mattox, L Llaci, J Smeeton, M Naymik, DW Raible, ... Human genetics 137, 459-470, 2018 | 32 | 2018 |
| Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual … E Banuelos, K Ramsey, N Belnap, M Krishnan, C Balak, S Szelinger, ... F1000Research 6, 2017 | 30 | 2017 |
| Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease IS Piras, C Bleul, I Schrauwen, J Talboom, L Llaci, MD De Both, ... Acta Neuropathologica Communications 8, 1-20, 2020 | 27 | 2020 |
| Exome sequencing of two siblings with sporadic autism spectrum disorder and severe speech sound disorder suggests pleiotropic and complex effects B Peter, V Dinu, L Liu, M Huentelman, M Naymik, H Lancaster, C Vose, ... Behavior genetics 49, 399-414, 2019 | 21 | 2019 |
| Family SES is associated with the gut microbiome in infants and children CR Lewis, KS Bonham, SH McCann, AR Volpe, V D’sa, M Naymik, ... Microorganisms 9 (8), 1608, 2021 | 19 | 2021 |
| Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2 WM Jepsen, K Ramsey, S Szelinger, L Llaci, C Balak, N Belnap, ... Clinical genetics 96 (2), 183, 2019 | 19 | 2019 |
| Smoking is associated with impaired verbal learning and memory performance in women more than men CR Lewis, JS Talboom, MD De Both, AM Schmidt, MA Naymik, ... Scientific reports 11 (1), 10248, 2021 | 18 | 2021 |
| Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD) L Llaci, K Ramsey, N Belnap, AM Claasen, CD Balak, S Szelinger, ... Human Genetics 138, 1409-1417, 2019 | 13 | 2019 |
| A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the … C Balak, N Belnap, K Ramsey, S Joss, K Devriendt, M Naymik, W Jepsen, ... American Journal of Medical Genetics Part A 176 (7), 1549-1558, 2018 | 13 | 2018 |
| Exploring genome-wide DNA methylation patterns in Aicardi syndrome IS Piras, G Mills, L Llaci, M Naymik, K Ramsey, N Belnap, CD Balak, ... Epigenomics 9 (11), 1373-1386, 2017 | 11 | 2017 |
| Two separate, large cohorts reveal potential modifiers of age-associated variation in visual reaction time performance JS Talboom, MD De Both, MA Naymik, AM Schmidt, CR Lewis, ... npj Aging and Mechanisms of Disease 7 (1), 14, 2021 | 9 | 2021 |
| Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves E Kari, I Schrauwen, L Llaci, LM Fisher, JL Go, M Naymik, JA Knowles, ... Neurology: Genetics 3 (3), e153, 2017 | 8 | 2017 |
