H Hilger Ropers
Overview
Explore the profile of H Hilger Ropers including associated specialties, affiliations and a list of published articles.
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Articles
25
Citations
1578
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0
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Recent Articles
1.
Esmaeeli-Nieh S, Fenckova M, Porter I, Motazacker M, Nijhof B, Castells-Nobau A, et al.
PLoS Genet
. 2016 May;
12(5):e1006022.
PMID: 27166630
Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation...
2.
Ropers H, Wienker T
Eur J Med Genet
. 2015 Oct;
58(12):715-8.
PMID: 26506440
De novo loss of function (LOF) mutations in the ASXL3 gene cause Bainbridge-Ropers syndrome, a severe form of intellectual disability (ID) and developmental delay, but there is evidence that they...
3.
Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, et al.
PLoS One
. 2015 Aug;
10(8):e0129631.
PMID: 26308914
Cognitive impairment or intellectual disability (ID) is a widespread neurodevelopmental disorder characterized by low IQ (below 70). ID is genetically heterogeneous and is estimated to affect 1-3% of the world's...
4.
Hu H, Liu X, Jin W, Ropers H, Wienker T
Sci Rep
. 2015 May;
5:10247.
PMID: 25975447
Sample-tagging is designed for identification of accidental sample mix-up, which is a major issue in re-sequencing studies. In this work, we develop a model to measure the information content of...
5.
Franic S, Groen-Blokhuis M, Dolan C, Kattenberg M, Pool R, Xiao X, et al.
Eur J Hum Genet
. 2015 Feb;
23(10):1378-83.
PMID: 25712083
Multiple inquiries into the genetic etiology of human traits indicated an overlap between genes underlying monogenic disorders (eg, skeletal growth defects) and those affecting continuous variability of related quantitative traits...
6.
Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, et al.
Eur J Hum Genet
. 2015 Feb;
23(3):416.
PMID: 25672248
No abstract available.
7.
Hu H, Wienker T, Musante L, Kalscheuer V, Kahrizi K, Najmabadi H, et al.
Hum Mutat
. 2014 Sep;
35(12):1427-35.
PMID: 25219469
Next-generation sequencing has greatly accelerated the search for disease-causing defects, but even for experts the data analysis can be a major challenge. To facilitate the data processing in a clinical...
8.
Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, et al.
Eur J Hum Genet
. 2014 Feb;
23(3):331-6.
PMID: 24569606
In the context of a comprehensive research project, investigating novel autosomal recessive intellectual disability (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24,...
9.
Musante L, Ropers H
Trends Genet
. 2013 Nov;
30(1):32-9.
PMID: 24176302
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent...
10.
Bainbridge M, Hu H, Muzny D, Musante L, Lupski J, Graham B, et al.
Genome Med
. 2013 Feb;
5(2):11.
PMID: 23383720
Background: Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases...