J. Herbergs

Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis*

Jos Dreesen, L.J.A.M. Jacobs, M. Bras et al. · Molecular Human Reproduction · 2000 · 102 citations

Genetics, Pathology, Preimplantation Genetic Testing +19

Clinical spectrum of <i>SIX3</i>-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler et al. · Journal of Medical Genetics · 2009 · 98 citations · Full text

Rett syndrome in females with CTS hot spot deletions: A disorder profile

E. Smeets, Pauline Terhal, Paul Casaer et al. · American Journal of Medical Genetics Part A · 2004 · 80 citations

Hot Spot Deletions, Mendelian Disorder, Genetic Disorder +14

Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: Detection by MLPA and breakpoint mapping by SNP array analysis

Servi J.C. Stevens, Eric Smeets, Eveline W Blom et al. · American Journal of Medical Genetics Part A · 2009 · 73 citations

The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism

Erich Roessler, Felicitas Lacbawan, Christ��le Dubourg et al. · Human Mutation · 2009 · 63 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +18