Erik Björck

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

Recurrent Sites for New Centromere Seeding

Mario Ventura, Stefania Weigl, Lucia Carbone et al. · Genome Research · 2004 · 152 citations · Full text

Life Sciences, Evolutionary Biology, Genetics +15

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 146 citations

Life Sciences, Genetics, Molecular Genetics +11

Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors

Zohreh Ketabi, Katarina Bartuma, Inge Bernstein et al. · Gynecologic Oncology · 2011 · 123 citations

Medicine, Gynecology, Oncology +14