H.-Hilger Ropers
Affiliations: | Human Molecular Genetics | Max Planck Institute for Molecular Genetics, Berlin, Berlin, Germany |
Area:
elucidation of monogenic disordersWebsite:
http://www.molgen.mpg.de/research/ropers/Google:
"H.-Hilger Ropers"Bio:
http://knaw.nl/nl/leden/buitenlandse-leden/5320
Cross-listing: GenetiTree
Children
Sign in to add trainee| Frans P.M. Cremers | grad student | 1991 | Radboud University Nijmegen |
| Han G. Brunner | grad student | 1993 | Radboud University Nijmegen |
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Publications
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| Beheshtian M, Akhtarkhavari T, Mehvari S, et al. (2020) Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients. Clinical Genetics |
| Mehvari S, Larti F, Hu H, et al. (2020) Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine. e1418 |
| Mitani T, Punetha J, Akalin I, et al. (2019) Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. American Journal of Human Genetics |
| von der Hagen M, Becker LL, Wienker TF, et al. (2019) Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders. Neuropediatrics |
| Kahrizi K, Huber M, Galetzka D, et al. (2019) Homozygous variants in the gene SCAPER cause syndromic intellectual disability. American Journal of Medical Genetics. Part A |
| Beheshtian M, Fattahi Z, Fadaee M, et al. (2019) Identification of disease causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families. Clinical Genetics |
| Jensen LR, Garrett L, Hölter SM, et al. (2018) A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. Biochimica Et Biophysica Acta. Molecular Basis of Disease |
| Kazeminasab S, Taskiran II, Fattahi Z, et al. (2018) CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics |
| Kahrizi K, Hu H, Hosseini M, et al. (2018) Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics |
| Hu H, Kahrizi K, Musante L, et al. (2018) Genetics of intellectual disability in consanguineous families. Molecular Psychiatry |