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Matt De Both
Matt De Both
Bioinformatician III, TGen
在 tgen.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
712015
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
612015
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
602019
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
542019
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
532017
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
502021
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
502015
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
462018
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
372019
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
362016
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
352018
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
322017
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
312015
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
292016
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
272020
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
262021
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
252019
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
202021
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
202019
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
202018
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