| Total extracellular small RNA profiles from plasma, saliva, and urine of healthy subjects A Yeri, A Courtright, R Reiman, E Carlson, T Beecroft, A Janss, A Siniard, ... Scientific reports 7 (1), 44061, 2017 | 160 | 2017 |
| De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy A Fassio, A Esposito, M Kato, H Saitsu, D Mei, C Marini, V Conti, ... Brain 141 (6), 1703-1718, 2018 | 85 | 2018 |
| 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 | 69 | 2019 |
| Novel pathogenic variants and genes for myopathies identified by whole exome sequencing JM Hunter, ME Ahearn, CD Balak, WS Liang, A Kurdoglu, JJ Corneveaux, ... Molecular genetics & genomic medicine 3 (4), 283-301, 2015 | 53 | 2015 |
| A recurrent de novo missense mutation in UBTF causes developmental neuroregression C Toro, RT Hori, MCV Malicdan, CJ Tifft, A Goldstein, WA Gahl, ... Human molecular genetics 27 (4), 691-705, 2018 | 45 | 2018 |
| Associations of MAP2K3 gene variants with superior memory in SuperAgers MJ Huentelman, IS Piras, AL Siniard, MD De Both, RF Richholt, CD Balak, ... Frontiers in Aging Neuroscience 10, 155, 2018 | 35 | 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 | 34 | 2017 |
| A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia AM Moskowitz, N Belnap, AL Siniard, S Szelinger, AM Claasen, ... Molecular Case Studies 2 (5), a000851, 2016 | 29 | 2016 |
| SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity BR Fixsen, CZ Han, Y Zhou, NJ Spann, P Saisan, Z Shen, C Balak, ... Nature immunology 24 (7), 1188-1199, 2023 | 26 | 2023 |
| De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy MH Wojcik, K Okada, SP Prabhu, DW Nowakowski, K Ramsey, C Balak, ... American Journal of Medical Genetics Part A 176 (12), 2623-2629, 2018 | 24 | 2018 |
| Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification JM Hunter, J Kiefer, CD Balak, S Jooma, ME Ahearn, JG Hall, ... American Journal of Medical Genetics Part A 167 (5), 931-973, 2015 | 24 | 2015 |
| 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 | 20 | 2019 |
| Functional characterizations of rare UBA1 variants in X-linked spinal muscular atrophy CD Balak, JM Hunter, ME Ahearn, D Wiley, G D'urso, ... F1000Research 6, 2017 | 18 | 2017 |
| 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 | 17 | 2019 |
| Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results B Gerald, K Ramsey, N Belnap, S Szelinger, AL Siniard, C Balak, ... Seminars in pediatric neurology 26, 28-32, 2018 | 17 | 2018 |
| A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus P Dunn, GP Prigatano, S Szelinger, J Roth, AL Siniard, AM Claasen, ... American Journal of Medical Genetics Part A 173 (3), 611-617, 2017 | 15 | 2017 |
| 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 | 14 | 2017 |
| 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 |
| Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes E Hutchins, R Reiman, J Winarta, T Beecroft, R Richholt, M De Both, ... Scientific Data 8 (1), 276, 2021 | 12 | 2021 |
| FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability AL Schneider, CT Myers, AM Muir, S Calvert, A Basinger, MS Perry, ... Epilepsia 62 (1), e13-e21, 2021 | 11 | 2021 |