Niamh L OBrien
Overview
Explore the profile of Niamh L OBrien including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
464
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0
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Recent Articles
1.
Murray A, Gough G, Cindric A, Vuckovic F, Koschut D, Borelli V, et al.
EBioMedicine
. 2023 Jul;
94:104692.
PMID: 37451904
Background: People with Down syndrome (DS) show clinical signs of accelerated ageing. Causative mechanisms remain unknown and hypotheses range from the (essentially untreatable) amplified-chromosomal-instability explanation, to potential actions of individual...
2.
OBrien N, Quadri G, Lightley I, Sharp S, Guerrini I, Smith I, et al.
Alcohol Alcohol
. 2022 Aug;
57(5):581-588.
PMID: 35952336
Aims: Wernicke-Korsakoff syndrome (WKS) is commonly associated with chronic alcohol misuse, a condition known to have multiple detrimental effects on thiamine metabolism. This study was conducted to identify genetic variants...
3.
Singh T, Poterba T, Curtis D, Akil H, Eissa M, Barchas J, et al.
Nature
. 2022 Apr;
604(7906):509-516.
PMID: 35396579
Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate...
4.
Alic I, Goh P, Murray A, Portelius E, Gkanatsiou E, Gough G, et al.
Mol Psychiatry
. 2021 Jul;
26(10):5789.
PMID: 34272490
No abstract available.
5.
Alic I, Goh P, Murray A, Portelius E, Gkanatsiou E, Gough G, et al.
Mol Psychiatry
. 2020 Jul;
26(10):5766-5788.
PMID: 32647257
A population of more than six million people worldwide at high risk of Alzheimer's disease (AD) are those with Down Syndrome (DS, caused by trisomy 21 (T21)), 70% of whom...
6.
Gough G, OBrien N, Alic I, Goh P, Yeap Y, Groet J, et al.
Prog Brain Res
. 2020 Feb;
251:55-90.
PMID: 32057312
Down Syndrome (DS) is a complex chromosomal disorder, with neurological issues, featuring among the symptoms. Primary neuronal cells and tissues are extremely useful, but limited both in supply and experimental...
7.
Al Eissa M, Sharp S, OBrien N, Fiorentino A, Bass N, Curtis D, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2019 Mar;
180(4):258-265.
PMID: 30859703
A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10 ) was tested for association in 2,300 bipolar disorder...
8.
Al Eissa M, Fiorentino A, Sharp S, OBrien N, Wolfe K, Giaroli G, et al.
Ann Hum Genet
. 2017 Nov;
82(2):88-92.
PMID: 29148569
Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of...
9.
Leonenko G, Richards A, Walters J, Pocklington A, Chambert K, Al Eissa M, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2017 Jul;
174(7):724-731.
PMID: 28719003
Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be...
10.
Zai G, Alberry B, Arloth J, Banlaki Z, Bares C, Boot E, et al.
Psychiatr Genet
. 2016 Sep;
26(6):229-257.
PMID: 27606929
The XXIIIrd World Congress of Psychiatric Genetics meeting, sponsored by the International Society of Psychiatric Genetics, was held in Toronto, ON, Canada, on 16-20 October 2015. Approximately 700 participants attended...