Nico Leijsten

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo et al. · The American Journal of Human Genetics · 2009 · 145 citations · Full text

Molecular Diagnostic Techniques, Clericuzio-type Poikiloderma, Medicine +8

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany et al. · European Journal of Human Genetics · 2022 · 87 citations · Full text

Genetic Epidemiology, Diagnosis, Disease Gene Identification +21

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

Ana Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten et al. · PLoS ONE · 2022 · 25 citations · Full text

Exome Sequencing, Genetics, Whole Exome +19

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

Gea Kiewiet, Dineke Westra, Eddy N. de Boer et al. · International Journal of Neonatal Screening · 2024 · 11 citations · Full text

Genetic Testing, Neonatology, Genetic Epidemiology +23