Merel W. Boogaard

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts

Sarah L. Gardiner, Merel W. Boogaard, Stella Trompet et al. · JAMA Neurology · 2019 · 102 citations · Full text

Life Sciences, Genetics, Neurology +16

Microsatellite Analysis of Voided-Urine Samples for Surveillance of Low-Grade Non-Muscle-Invasive Urothelial Carcinoma: Feasibility and Clinical Utility in a Prospective Multicenter Study (Cost-Effectiveness of Follow-Up of Urinary Bladder Cancer Trial [CEFUB])

Madelon N.M. van der Aa, Ellen C. Zwarthoff, Ewout W. Steyerberg et al. · European Urology · 2008 · 96 citations

Medicine, Oncology, Urology +15

<b><i>IGF1, IGF1R </i></b>and<b><i> SHOX</i></b> Mutation Analysis in Short Children Born Small for Gestational Age and Short Children with Normal Birth Size (Idiopathic Short Stature)

Janina Caliebe, Sander Broekman, Merel W. Boogaard et al. · Hormone Research in Paediatrics · 2012 · 60 citations

Life Sciences, Genetics, Molecular Genetics +17

Quantification of sequence exchange events between<i>PMS2</i>and<i>PMS2CL</i>provides a basis for improved mutation scanning of Lynch syndrome patients

Heleen M. van der Klift, Carli M.J. Tops, Elsa C. Bik et al. · Human Mutation · 2010 · 60 citations

Life Sciences, Genetics, Molecular Genetics +16