Peter Gustavsson

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia, Peter Gustavsson, Björn Andersson et al. · Nature Genetics · 1999 · 788 citations

Life Sciences, Genetics, Molecular Genetics +5

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Familial Hypercalcemia and Hypercalciuria Caused by a Novel Mutation in the Cytoplasmic Tail of the Calcium Receptor*

Tobias Carling, Éva Szabó, Mei Bai et al. · The Journal of Clinical Endocrinology & Metabolism · 2000 · 206 citations

Medicine, Endocrinology, Genetics +17

Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21

Mats Nilsson, Kateřina Krejčı́, Jørn Koch et al. · Nature Genetics · 1997 · 191 citations

Life Sciences, Genetics, Molecular Genetics +16

Alpha-cardiac actin mutations produce atrial septal defects

Hans Matsson, Jacqueline Eason, Carol S. Bookwalter et al. · Human Molecular Genetics · 2007 · 156 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17