Christine de Die‐Smulders

Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia

Niall G. Howlett, Toshiyasu Taniguchi, Susan B. Olson et al. · Science · 2002 · 1.1K citations

Biallelic Inactivation, Genome Instability, Fanconi Anemia +12

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Karuna R. M. van der Meij, Erik A. Sistermans, Merryn Macville et al. · The American Journal of Human Genetics · 2019 · 364 citations · Full text

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Luisa Nanni, Jeffrey E. Ming, Maureen Bocian et al. · Human Molecular Genetics · 1999 · 359 citations · Full text

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

Javier Simón‐Sánchez, Elise G.P. Dopper, Petra E. Cohn‐Hokke et al. · Brain · 2012 · 269 citations · Full text

Age and causes of death in adult-onset myotonic dystrophy

Christine de Die‐Smulders · Brain · 1998 · 258 citations · Full text

Myotonic Dystrophy Patients, Neuromusculoskeletal Disorder, Aging +9