Publikationen von H.-H. Ropers
Alle Typen
Zeitschriftenartikel (205)
21.
Zeitschriftenartikel
21 (1), S. 133 - 148 (2016)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 22.
Zeitschriftenartikel
58 (12), S. 715 - 718 (2015)
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 23.
Zeitschriftenartikel
24 (20), S. 5697 - 5710 (2015)
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 24.
Zeitschriftenartikel
23 (10), S. 1308 - 1317 (2015)
Redefining the MED13L syndrome. European journal of human genetics 25.
Zeitschriftenartikel
23 (10), S. 1378 - 1383 (2015)
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 26.
Zeitschriftenartikel
96 (3), S. 386 - 396 (2015)
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. The American Journal of Human Genetics 27.
Zeitschriftenartikel
23 (3), S. 331 - 336 (2015)
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. European journal of human genetics 28.
Zeitschriftenartikel
18 (3), S. 179 - 184 (2015)
New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Archives of Iranian Medicine 29.
Zeitschriftenartikel
10 (8), e0129631 (2015)
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. PLoS One 30.
Zeitschriftenartikel
5, 5:10247 (2015)
Evaluating information content of SNPs for sample-tagging in re-sequencing projects. Scientific Reports 31.
Zeitschriftenartikel
36 (1), S. 106 - 117 (2015)
Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 32.
Zeitschriftenartikel
1 (12), S. 1024 - 1035 (2014)
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology 33.
Zeitschriftenartikel
35 (12), S. 1427 - 1435 (2014)
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation 34.
Zeitschriftenartikel
23 (23), S. 6163 - 6176 (2014)
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics 35.
Zeitschriftenartikel
51 (6), S. 375 - 387 (2014)
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Journal of Medical Genetics 36.
Zeitschriftenartikel
13, S. 91 - 99 (2014)
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females. JIMD Reports 37.
Zeitschriftenartikel
13 (10), S. 1650 - 1651 (2014)
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle 38.
Zeitschriftenartikel
30 (1), S. 32 - 39 (2014)
Genetics of recessive cognitive disorders. Trends in Genetics 39.
Zeitschriftenartikel
161A (12), S. 3063 - 3071 (2013)
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. American Journal of Medical Genetics Part A 40.
Zeitschriftenartikel
161A (8), S. 1915 - 1922 (2013)
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. American Journal of Medical Genetics Part A