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- 2024
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Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
(
- Contribution to journal › Article
- 2021
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Mark
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
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- Contribution to journal › Article
- 2019
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Mark
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
(
- Contribution to journal › Article
- 2017
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Mark
Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations
(
- Contribution to journal › Article
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Mark
The pre-mRNA retention and splicing complex controls expression of the Mediator subunit Med20
(
- Contribution to journal › Article
- 2016
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Mark
Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies
(
- Contribution to journal › Article
- 2014
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Mark
Deletion of the mitochondrial chaperone TRAP-1 uncovers global reprogramming of metabolic networks
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- Contribution to journal › Article
- 2013
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Mark
Haemophilus influenzae acquires vitronectin via the ubiquitous Protein F to subvert host innate immunity.
(
- Contribution to journal › Article
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Mark
ALKBH4-dependent demethylation of actin regulates actomyosin dynamics
(
- Contribution to journal › Article
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Mark
The pre-mRNA retention and splicing complex controls tRNA maturation by promoting TAN1 expression
(
- Contribution to journal › Article
- 2011
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Mark
Smooth muscle miRNAs are critical for post-natal regulation of blood pressure and vascular function
(
- Contribution to journal › Article
- 2010
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Mark
Genetic deletion and pharmacological inhibition of Nogo-66 receptor impairs cognitive outcome after traumatic brain injury in mice
(
- Contribution to journal › Article
- 2006
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Mark
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation
(
- Contribution to journal › Article
- 2005
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Mark
Structure and function of the GTP binding protein Gtr1 and its role in phosphate transport in Saccharomyces cerevisiae
(
- Contribution to journal › Article
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Mark
An early step in wobble uridine tRNA modification requires the Elongator complex
(
- Contribution to journal › Article
- 2002
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Mark
Beta1 integrin is not essential for hematopoiesis but is necessary for the T cell-dependent IgM antibody response.
(
- Contribution to journal › Article
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Mark
Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.
(
- Contribution to journal › Article
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Mark
Characterization of the dihydrolipoamide dehydrogenase from Streptococcus pneumoniae and its role in pneumococcal infection
(
- Contribution to journal › Article
- 1998
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Mark
The cotton-top tamarin carries an extended semenogelin I gene but no semenogelin II gene
(
- Contribution to journal › Article
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Mark
Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism
(
- Contribution to journal › Article
- 1997
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Mark
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
(
- Contribution to journal › Article
- 1996
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Mark
Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer
(
- Contribution to journal › Article
- 1994
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Mark
Purification and characterisation of a water-soluble ferrochelatase from Bacillus subtilis
(
- Contribution to journal › Article
- 1993
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Mark
Reconstitution of wild-type p53 expression triggers apoptosis in a p53-negative v-myc retrovirus-induced T-cell lymphoma line
(
- Contribution to journal › Article
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Mark
An exon 5 deletion variant of the estrogen receptor frequently coexpressed with wild-type estrogen receptor in human breast cancer
(
- Contribution to journal › Article