Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease MA Lalli, BM Bettcher, ML Arcila, G Garcia, C Guzman, L Madrigal, ... Molecular psychiatry 20 (11), 1294-1300, 2015 | 71 | 2015 |
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 | 61 | 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 | 60 | 2019 |
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish A Siekierska, H Stamberger, T Deconinck, SN Oprescu, M Partoens, ... Nature communications 10 (1), 708, 2019 | 54 | 2019 |
Hippocampal transcriptomic profiles: subfield vulnerability to age and cognitive impairment L Ianov, M De Both, MK Chawla, A Rani, AJ Kennedy, I Piras, JJ Day, ... Frontiers in aging neuroscience 9, 383, 2017 | 53 | 2017 |
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 | 50 | 2021 |
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 | 50 | 2015 |
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 | 46 | 2018 |
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 | 37 | 2019 |
Next-generation profiling to identify the molecular etiology of Parkinson dementia A Henderson-Smith, JJ Corneveaux, M De Both, L Cuyugan, WS Liang, ... Neurology: Genetics 2 (3), e75, 2016 | 36 | 2016 |
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 | 32 | 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 | 31 | 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 | 29 | 2016 |
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 |
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 | 26 | 2021 |
Common BACE2 polymorphisms are associated with altered risk for Alzheimer’s disease and CSF amyloid biomarkers in APOE ε4 non-carriers M Huentelman, M De Both, W Jepsen, IS Piras, JS Talboom, M Willeman, ... Scientific reports 9 (1), 9640, 2019 | 25 | 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 | 20 | 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 | 20 | 2019 |
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 |