Martin A. Haagmans

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

Mariëlle Alders, Lihadh Al‐Gazali, Isabelle Bezerra Cordeiro et al. · Human Genetics · 2014 · 165 citations

Life Sciences, Genetics, Molecular Genetics +5

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

J Groen, Arturo Andrade, Katja Ritz et al. · Human Molecular Genetics · 2014 · 91 citations · Full text

Natural Sciences, Genetics, Molecular Genetics +17

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Iliana A. Chatzispyrou, Mariëlle Alders, Sergio Guerrero‐Castillo et al. · Human Molecular Genetics · 2017 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cow’s milk allergy in Dutch children: an epigenetic pilot survey

Nicole C. M. Petrus, Peter Henneman, Andrea Venema et al. · Clinical and Translational Allergy · 2016 · 50 citations · Full text

Medicine, Genetics, Immunology +17

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Olaf R.F. Mook, Martin A. Haagmans, Jean‐François Soucy et al. · Journal of Medical Genetics · 2013 · 42 citations · Full text

Life Sciences, Cardiology, Genetics +17