Peter Gustavsson
Volvo (Sweden)(SE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, RNA modifications and cancer
Most-Cited Works
- → The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia(1999)784 cited
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)259 cited
- → Familial Hypercalcemia and Hypercalciuria Caused by a Novel Mutation in the Cytoplasmic Tail of the Calcium Receptor*(2000)205 cited
- → Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21(1997)191 cited
- → Alpha-cardiac actin mutations produce atrial septal defects(2007)153 cited
- → From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability(2019)141 cited
- → Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation(2005)121 cited
- → Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans(2011)118 cited
- → Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb(1997)98 cited
- → Copy number variation characteristics in subpopulations of patients with autism spectrum disorders(2010)84 cited