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Department of Human Genetics
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top-articles
Department of Human Genetics
10
(top 5%)
papers
214
(top 5%)
citations
7
(top 5%)
h
-index
10
(top 5%)
g
-index
11
all documents
230
doc citations
159
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans
Proceedings of the National Academy of Sciences of the United States of America
2006
49
2
Broad-Spectrum Möbius Syndrome Associated with a 1;11 Chromosome Translocation
Ophthalmic Paediatrics and Genetics
1993
47
3
Consistent numerical chromosome aberrations in congenital fibrosarcoma
Cancer Genetics and Cytogenetics
1993
37
4
Deregulation of common genes by c-Myc and its direct target, MT-MC1
Proceedings of the National Academy of Sciences of the United States of America
2005
26
5
Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome
American Journal of Physiology - Endocrinology and Metabolism
2011
25
6
DISSCO: direct imputation of summary statistics allowing covariates
Bioinformatics
2015
18
7
Unique plasma metabolomic signatures of individuals with inherited disorders of long‐chain fatty acid oxidation
Journal of Inherited Metabolic Disease
2016
18
8
Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands
Biochimie
2015
6
9
Acute myeloblastic leukemia with a pericentric inversion of chromosome 6 in a child with down syndrome
Cancer Genetics and Cytogenetics
1994
2
10
Matrin-3 dysfunction in myopathy and motor neuron degeneration
Neural Regeneration Research
2022
1
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