E. Voorhoeve

发表

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

M. Nelen, R. Sinke, M. Dollé, 2022, International journal of neonatal screening.

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

C. Wijmenga, G. Padberg, R. Frants, 1996, Journal of medical genetics.

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

B. Ceulemans, E. Sistermans, A. Groffen, 2014, European Journal of Human Genetics.

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

C. van Broeckhoven, W. Hul, E. Bakker, 1991, American journal of human genetics.

A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

E. Nossent, M. C. Yakıcıer, A. Houweling, 2016, Clinical case reports.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

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

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

J. Oosterwijk, E. van de Vosse, E. Vosse, 1995, Journal of medical genetics.

Estimates of live birth prevalence of children with Down syndrome in the period 1991–2015 in the Netherlands

R. Hochstenbach, A. Kooper, L. Zutven, 2017, Journal of intellectual disability research : JIDR.

Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study

D. Smeets, A. Kooper, A. V. van Kaam, 2021, Prenatal diagnosis.

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

M. Groenink, M. Kempers, K. Yeung, 2018, Human mutation.

Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?

F. Jehee, E. Sistermans, M. Srebniak, 2021, Acta obstetricia et gynecologica Scandinavica.

Quality management in molecular genetics.

S. Patton, E. Voorhoeve, A. Kneppers, 2004, Methods in molecular medicine.

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

C. van Broeckhoven, C. V. van Duijn, J. V. van Swieten, 1994, Annals of neurology.

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

D. Bonneau, L. Gouya, C. Boileau, 2020, Clinical genetics.

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

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.