M. W. Partington
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Ubiquitin and proteasome pathways
Most-Cited Works
- → A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation(2009)614 cited
- → Further segregation analysis of the fragile X syndrome with special reference to transmitting males(1985)510 cited
- → PAK3 mutation in nonsyndromic X-linked mental retardation(1998)469 cited
- → Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy(2002)431 cited
- → Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor(2007)224 cited
- → Fragile X syndrome without CCG amplification has an FMR1 deletion(1992)218 cited
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