Lars Riff Jensen

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Chronic Myeloid Leukemia Treatments, Epigenetics and DNA Methylation, Microtubule and mitosis dynamics, Metabolism and Genetic Disorders

Most-Cited Works

• → Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males(2005)624 cited
• → Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation(2005)374 cited
• → A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome(2006)189 cited
• → Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation(2003)167 cited
• → A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation(2007)158 cited
• → Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome(2000)127 cited
• → NovelJARID1C/SMCX mutations in patients with X-linked mental retardation(2006)125 cited
• → Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium(2007)121 cited
• → Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci(2006)103 cited
• → MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression(2008)71 cited