Els Voorhoeve

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak et al. · Genetics in Medicine · 2018 · 221 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 193 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

Egbert Bakker, Christine Van Broeckhoven, J. Haan et al. · PubMed · 1991 · 78 citations

Life Sciences, Genetics, Molecular Genetics +12

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.

Egbert Bakker, M J van der Wielen, Els Voorhoeve et al. · Journal of Medical Genetics · 1996 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The apolipoprotein E ε4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations

Joost Haan, Christine Van Broeckhoven, Cornelia M. van Duijn et al. · Annals of Neurology · 1994 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17