L. Vissers

发表

Recurrent Inversion Events at 17q21.31 Microdeletion Locus Are Linked to the MAPT H2 Haplotype

R. Ophoff, J. Veltman, P. N. Rao, 2010, Cytogenetic and Genome Research.

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array‐based comparative genomic hybridization

B. D. de Vries, D. Smeets, E. Sistermans, 2004, Clinical genetics.

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

J. Veltman, L. Ramos, S. Viville, 2020, Human reproduction.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

De novo loss‐of‐function mutations in X‐linked SMC1A cause severe ID and therapy‐resistant epilepsy in females: expanding the phenotypic spectrum

R. Pfundt, J. Hehir-Kwa, J. Veltman, 2016, Clinical genetics.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

L. Vissers, J. Veltman, T. Kleefstra, 2016, Journal of Genetic Counseling.

Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs

J. Veltman, T. Kleefstra, L. Vissers, 2016, Clinical genetics.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

A de novo paradigm for male infertility

L. Vissers, S. Cockell, J. Veltman, 2021, bioRxiv.

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

R. Pfundt, B. D. de Vries, P. Stankiewicz, 2007, Human Genetics.

De novo mutations in children born after medical assisted reproduction

L. Ramos, C. Gilissen, P. D. de Vries, 2022, Human reproduction.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

L. Vissers, R. Pfundt, R. V. van Lingen, 2023, European Journal of Pediatrics.

PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders

J. Schuurs-Hoeijmakers, R. Pfundt, T. Kleefstra, 2023, medRxiv.