Johannes Kristian Ploos van Amstel

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Isaäc J. Nijman, Joris M. van Montfrans, Marlous Hoogstraat et al. · Journal of Allergy and Clinical Immunology · 2013 · 161 citations

Life Sciences, Genetics, Molecular Genetics +15

Overlapping spectra of <i>SMAD4</i> mutations in juvenile polyposis (JP) and JP–HHT syndrome

Carol J. Gallione, Arthur S. Aylsworth, Jill Beis et al. · American Journal of Medical Genetics Part A · 2010 · 147 citations

Life Sciences, Genetics, Molecular Genetics +11

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients

Tom G.W. Letteboer, Richard Zewald, Eveline J. Kamping et al. · Human Genetics · 2004 · 111 citations

Life Sciences, Genetics, Molecular Genetics +8

Earliest gestational age for fetal sexing in cell‐free maternal plasma

R. J. P. Rijnders, Rob B. van der Luijt, Edith Peters et al. · Prenatal Diagnosis · 2003 · 96 citations

Medicine, Genetics, Obstetrics +17

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Michael Benzinou, Frederic F. Clermont, Tom G.W. Letteboer et al. · Nature Communications · 2012 · 67 citations · Full text

Life Sciences, Genetics, Molecular Biology +10