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| A frame-shift mutation in CAV1 is associated with a severe neonatal progeroid and lipodystrophy syndrome I Schrauwen, S Szelinger, AL Siniard, A Kurdoglu, JJ Corneveaux, ... PLoS One 10 (7), e0131797, 2015 | 59 | 2015 |
| 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 |
| Association of SNPs in EGR3 and ARC with schizophrenia supports a biological pathway for schizophrenia risk MJ Huentelman, L Muppana, JJ Corneveaux, V Dinu, JJ Pruzin, ... PloS one 10 (10), e0135076, 2015 | 51 | 2015 |
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| 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 |
| A guide to single-cell transcriptomics in adult rodent brain: the medium spiny neuron transcriptome revisited H Ho, MD Both, A Siniard, S Sharma, JH Notwell, M Wallace, DP Leone, ... Frontiers in cellular neuroscience 12, 376207, 2018 | 44 | 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 |
| A de novo mutation in TEAD1 causes non–X-linked Aicardi syndrome I Schrauwen, S Szelinger, AL Siniard, JJ Corneveaux, A Kurdoglu, ... Investigative Ophthalmology & Visual Science 56 (6), 3896-3904, 2015 | 30 | 2015 |
| 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 | 26 | 2016 |
| Putative Receptors Underpinning l-Lactate Signalling in Locus Coeruleus V Mosienko, S Rasooli-Nejad, K Kishi, M De Both, D Jane, ... Neuroglia 1 (2), 365-380, 2018 | 20 | 2018 |
| 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 |
| 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 |
| 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 | 15 | 2018 |
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| 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 |
| 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 | 11 | 2021 |
| 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 |
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