Search details
1.
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Nature
; 604(7906): 509-516, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35396579
2.
Robertsonian Fusion and Centromere Repositioning Contributed to the Formation of Satellite-free Centromeres During the Evolution of Zebras.
Mol Biol Evol
; 39(8)2022 08 03.
Article
in English
| MEDLINE | ID: mdl-35881460
3.
Sequencing and de novo assembly of 150 genomes from Denmark as a population reference.
Nature
; 548(7665): 87-91, 2017 08 03.
Article
in English
| MEDLINE | ID: mdl-28746312
4.
hgtseq: A Standard Pipeline to Study Horizontal Gene Transfer.
Int J Mol Sci
; 23(23)2022 Nov 22.
Article
in English
| MEDLINE | ID: mdl-36498841
5.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Am J Hum Genet
; 102(6): 1204-1211, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29861106
6.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Article
in English
| MEDLINE | ID: mdl-25439728
7.
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Hum Mol Genet
; 23(10): 2511-26, 2014 May 15.
Article
in English
| MEDLINE | ID: mdl-24412933
8.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
J Med Genet
; 52(3): 147-56, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25564561
9.
Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population.
Am J Med Genet B Neuropsychiatr Genet
; 171(8): 1013-1022, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27255576
10.
Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq.
BMC Genomics
; 16: 548, 2015 Jul 25.
Article
in English
| MEDLINE | ID: mdl-26208977
11.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Brain
; 136(Pt 10): 3096-105, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-24022475
12.
Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery.
NAR Genom Bioinform
; 6(2): lqae031, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38666213
13.
The promise of explainable deep learning for omics data analysis: Adding new discovery tools to AI.
N Biotechnol
; 77: 1-11, 2023 Nov 25.
Article
in English
| MEDLINE | ID: mdl-37329982
14.
Omics in a Digital World: The Role of Bioinformatics in Providing New Insights Into Human Aging.
Front Genet
; 12: 689824, 2021.
Article
in English
| MEDLINE | ID: mdl-34178042
15.
Association between the interleukin-1beta polymorphisms and Alzheimer's disease: a systematic review and meta-analysis.
Brain Res Rev
; 59(1): 155-63, 2008 Nov.
Article
in English
| MEDLINE | ID: mdl-18675847
16.
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.
Nat Neurosci
; 22(12): 1961-1965, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31768057
17.
A genetic-demographic approach reveals male-specific association between survival and tumor necrosis factor (A/G)-308 polymorphism.
J Gerontol A Biol Sci Med Sci
; 63(5): 454-60, 2008 May.
Article
in English
| MEDLINE | ID: mdl-18511747
18.
Role of mitochondrial DNA in longevity, aging and age-related diseases in humans: a reappraisal.
Ital J Biochem
; 56(4): 243-53, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-19192621
19.
The use of whole-exome sequencing to disentangle complex phenotypes.
Eur J Hum Genet
; 24(2): 298-301, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26059842
20.
STAG3 truncating variant as the cause of primary ovarian insufficiency.
Eur J Hum Genet
; 24(1): 135-8, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26059840