Lisbeth Tranebjærg

Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Juha Paloneva, Tuula Manninen, Grant P. Christman et al. · The American Journal of Human Genetics · 2002 · 700 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

Rajiv D. Machado, Michael W. Pauciulo, Jennifer R. Thomson et al. · The American Journal of Human Genetics · 2001 · 537 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Whole-genome sequencing in health care

Carla van El, Martina C. Cornel, Pascal Borry et al. · European Journal of Human Genetics · 2013 · 383 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Carla van El, Martina C. Cornel, Pascal Borry et al. · PubMed · 2013 · 357 citations

Life Sciences, Genetics, Molecular Genetics +15

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Wybo Dondorp, Guido de Wert, Yvonne Bombard et al. · European Journal of Human Genetics · 2015 · 354 citations · Full text

Medicine, Genetics, Obstetrics +17