L. Vissers

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

Kali T. Witherspoon, Bradley P. Coe, J. Shendure, 2014, Nature Genetics.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

L. Vissers, A. Hoischen, R. Pfundt, 2009, Human molecular genetics.

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Eric Boerwinkle, William B. Dobyns, Tomasz Gambin, 2014, Cell.

Genetic studies in intellectual disability and related disorders

L. Vissers, J. Veltman, C. Gilissen, 2015, Nature Reviews Genetics.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, European Journal of Human Genetics.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Christian Gilissen, Annette Schenck, Koenraad Devriendt, 2012, American journal of human genetics.

Diagnostic exome sequencing in persons with severe intellectual disability.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2012, The New England journal of medicine.

Genome sequencing identifies major causes of severe intellectual disability

L. Vissers, A. Hoischen, R. Pfundt, 2014, Nature.

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

L. Vissers, R. Pfundt, M. Reijnders, 2016, Nature Neuroscience.

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

L. Vissers, R. Pfundt, N. de Leeuw, 2011, Journal of Medical Genetics.

A de novo paradigm for mental retardation

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Nature Genetics.

Parent-of-origin-specific signatures of de novo mutations

J. Roach, L. Vissers, A. Hoischen, 2016, Nature Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

L. Vissers, J. Hehir-Kwa, B. D. de Vries, 2021, European Journal of Human Genetics.

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

P. Kemmeren, L. Vissers, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in Medicine.

Variation of CNV distribution in five different ethnic populations

L. Vissers, H. Brunner, J. D. den Dunnen, 2007, Cytogenetic and Genome Research.

Diagnostic genome profiling in mental retardation.

Ton Feuth, Martijn A. R. Leisink, Erik A Sistermans, 2005, American journal of human genetics.

Identification of disease genes by whole genome CGH arrays.

Han G Brunner, L. Vissers, J. Veltman, 2005, Human molecular genetics.

Detection of Clinically Relevant Copy Number Variants with Whole‐Exome Sequencing

Todd Richmond, Rolph Pfundt, L. Vissers, 2013, Human mutation.

Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study

L. Vissers, R. A. O. Olde Keizer, W. V. van Zelst-Stams, 2021, European Journal of Pediatrics.

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

Michael C. Westaway, Melissa A. Wilson Sayres, R. Mägi, 2015, Genome research.

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.

L. Vissers, R. Pfundt, C. Cremers, 2011, American journal of human genetics.

Identification of rare de novo epigenetic variations in congenital disorders

L. Vissers, J. Buxbaum, A. Sharp, 2018, bioRxiv.

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

L. Vissers, H. Brunner, I. Feenstra, 2021, European journal of human genetics : EJHG.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2013, Journal of Medical Genetics.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

B. V. van Bon, L. Vissers, B. D. de Vries, 2012, Journal of Medical Genetics.

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

L. Vissers, C. Gilissen, E. Kamsteeg, 2020, medRxiv.

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

L. Vissers, J. Schuurs-Hoeijmakers, B. D. de Vries, 2012, American journal of human genetics.

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

L. Vissers, R. Pfundt, J. Veltman, 2014, PloS one.

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

A. V. Vulto-van Silfhout, L. Vissers, T. Wienker, 2015, American journal of human genetics.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

L. Vissers, A. Hoischen, J. Lupski, 2017, European Journal of Human Genetics.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

L. Vissers, R. Pfundt, M. Nelen, 2022, Genome medicine.

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

L. Vissers, M. V. van Gerven, C. Gilissen, 2021, bioRxiv.

Integrating healthcare and research genetic data empowers the discovery of 28 novel 1 developmental disorders 2 3

Patrick J. Short, M. Hurles, L. Vissers, 2020 .

How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

L. Vissers, A. Hoischen, H. Prokisch, 2022, Journal of inherited metabolic disease.

Long-read trio sequencing of individuals with unsolved intellectual disability

L. Vissers, A. Hoischen, P. Baybayan, 2020, European Journal of Human Genetics.

Identifying long indels in exome sequencing data of patients with intellectual disability

L. Vissers, R. Pfundt, J. Hehir-Kwa, 2018, bioRxiv.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function

L. Vissers, S. Haas, T. Kleefstra, 2014, Journal of Medical Genetics.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

L. Vissers, R. Pfundt, T. Wienker, 2015, European Journal of Human Genetics.

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

L. Vissers, R. Pfundt, N. de Leeuw, 2022, European Journal of Human Genetics.

Erratum: Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems (The American Journal of Human Genetics (2014) 94(5) (649–661) (S0002929714001153) (10.1016/j.ajhg.2014.03.013))

L. Vissers, A. Hoischen, G. Carvill, 2015 .

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Han G Brunner, L. Vissers, J. Veltman, 2004, Nature Genetics.

An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX

L. Vissers, N. Thorne, C. Shoubridge, 2017, Human mutation.

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.

L. Vissers, L. Ramos, D. Lugtenberg, 2019, Reproductive biomedicine online.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

L. Vissers, S. Cheung, J. Veltman, 2012, Nature Genetics.

Comparing facial feature extraction methods in the diagnosis of rare genetic syndromes

L. Vissers, B. D. de Vries, M. V. van Gerven, 2022, medRxiv.

Correction: Long-read trio sequencing of individuals with unsolved intellectual disability

L. Vissers, A. Hoischen, P. Baybayan, 2021, European journal of human genetics : EJHG.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

L. Vissers, R. Pfundt, P. Stankiewicz, 2014, American journal of human genetics.

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

L. Vissers, B. D. de Vries, E. Eichler, 2022, Translational Psychiatry.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

L. Vissers, A. Hoischen, I. Fajardy, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

L. Vissers, D. Wieczorek, D. Chitayat, 2019, Kidney international.

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

G. Vriend, L. Vissers, R. Pfundt, 2017, American journal of human genetics.

A systematic review and standardized clinical validity assessment of male infertility genes

L. Vissers, J. Veltman, L. Ramos, 2018, bioRxiv.

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

L. Vissers, A. Hoischen, J. Hehir-Kwa, 2017, Human mutation.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

Microdeletion and microduplication syndromes.

L. Vissers, P. Stankiewicz, 2012, Methods in molecular biology.

Molecular Karyotyping by Array CGH. Linking gene dosage alterations to disease phenotypes.

L. Vissers, 2007 .

Point mutations as a source of de novo genetic disease.

L. Vissers, J. Veltman, J. de Ligt, 2013, Current opinion in genetics & development.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Kali T. Witherspoon, B. Coe, K. Witherspoon, 2017, European Journal of Human Genetics.

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability

L. Vissers, R. Pfundt, M. Reijnders, 2016, bioRxiv.

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Jay Shendure, Serafino Buono, Hilde Peeters, 2014, Cell.

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2014, Nature Genetics.

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Ton Feuth, Kazutoyo Osoegawa, Han G Brunner, 2003, American journal of human genetics.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Bba, L. Vissers, B. D. de Vries, 2005, Journal of Medical Genetics.

The Genetics of Intellectual Disability

L. Vissers, B. D. de Vries, S. Jansen, 2023, Brain sciences.

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.

L. Vissers, A. Hoischen, J. Veltman, 2015, American journal of human genetics.

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

B. V. van Bon, L. Vissers, B. D. de Vries, 2013, Journal of Medical Genetics.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

L. Vissers, A. Hoischen, J. Veltman, 2011, Nature Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information

L. Vissers, J. Gécz, B. D. de Vries, 2021, American journal of medical genetics. Part A.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2014, American journal of human genetics.

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

Valter Tucci, Angelo Bifone, Alessandro Gozzi, 2014, The Journal of clinical investigation.

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

L. Vissers, B. D. de Vries, J. Veltman, 2009, Journal of Medical Genetics.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

L. Vissers, R. Pfundt, B. D. de Vries, 2020, American journal of human genetics.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

L. Vissers, W. Reardon, E. Bongers, 2012, American journal of human genetics.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, Human molecular genetics.

TRIO-Related Intellectual Disability

L. Vissers, D. Baralle, B. Vries, 1993 .

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

L. Vissers, R. Pfundt, N. de Leeuw, 2020, Prenatal diagnosis.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Christian Gilissen, Bonnie Nijhof, Annette Schenck, 2013, Human molecular genetics.

neurodevelopmental and psychiatric disorders

L. Vissers, H. Peeters, J. Veltman, 2013 .

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

P. Kemmeren, L. Vissers, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

L. Vissers, G. Carvill, I. Scheffer, 2021, Developmental medicine and child neurology.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

L. Vissers, A. Hoischen, B. D. de Vries, 2020, European Journal of Human Genetics.

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

L. Vissers, A. Hoischen, B. D. de Vries, 2020, European Journal of Human Genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy

L. Vissers, J. K. Ploos van Amstel, L. Henneman, 2021, Journal of medical economics.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

L. Vissers, R. Pfundt, O. Devinsky, 2021, medRxiv.

Impact of Genomewide Structural Variation on Gene Discovery

L. Vissers, J. Veltman, 2012 .

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

L. Vissers, R. Pfundt, B. D. de Vries, 2017, American journal of human genetics.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

1 in 38 individuals at risk of a dominant medically actionable disease

A. V. Vulto-van Silfhout, L. Vissers, H. Brunner, 2018, European Journal of Human Genetics.

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

A. V. Vulto-van Silfhout, L. Vissers, B. D. de Vries, 2021, European Journal of Human Genetics.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, B. D. de Vries, 2014, American journal of human genetics.

Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria (MC‐HGA)

Sheila Unger, Andrea Superti-Furga, Ahmet Dursun, 2011, American journal of medical genetics. Part A.

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

L. Vissers, J. Veltman, H. Brunner, 2011, American journal of human genetics.

Diagnostic exome sequencing in persons with severe intellectual disability.

Christian Gilissen, Alexander Hoischen, Han G. Brunner, 2012, New England Journal of Medicine.

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

G. Vriend, L. Vissers, R. Pfundt, 2022, medRxiv.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

L. Vissers, J. Hardy, C. Davies, 2016, American journal of human genetics.

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

L. Vissers, A. Hoischen, R. Pfundt, 2016, Genetics in Medicine.

Standardized phenotyping enhances Mendelian disease gene identification

L. Vissers, J. Veltman, 2015, Nature Genetics.

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

L. Vissers, J. Veltman, H. Brunner, 2014, European Journal of Human Genetics.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Patrick J. Short, M. Hurles, L. Vissers, 2019, bioRxiv.

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

L. Vissers, E. Bongers, R. Roepman, 2021, European Journal of Human Genetics.

Characterization of the GABRB2‐Associated Neurodevelopmental Disorders

L. Vissers, H. Lerche, R. Møller, 2020, Annals of neurology.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

L. Vissers, H. Cavé, B. Gelb, 2021, American journal of human genetics.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, R. Rodenburg, M. Coenen, 2021, European journal of human genetics : EJHG.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

L. Vissers, M. Nelen, K. Neveling, 2022, npj Genomic Medicine.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

L. Vissers, I. Fajardy, D. Sharon, 2023, HGG advances.

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.

Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.

L. Vissers, W. D. de Boode, W. Keusters, 2021, European journal of medical genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

L. Vissers, J. Veltman, C. Gilissen, 2012, European Journal of Human Genetics.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

L. Vissers, H. Waterham, J. Christodoulou, 2018, American journal of human genetics.

Comprehensive de novo mutation discovery with HiFi long-read sequencing

L. Vissers, A. Hoischen, P. Baybayan, 2023, Genome Medicine.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Stephen C. J. Parker, James T. Elder, L. Vissers, 2023, Nature Genetics.

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

L. Vissers, A. Hoischen, N. de Leeuw, 2023, HGG advances.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2023, Nature Genetics.

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

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

Characterization of de novo Mutations in the Human Germline

J. Roach, L. Vissers, A. Hoischen, 2019 .

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.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

SOD1 is a synthetic lethal target in PPM1D-mutant leukemia cells

L. Vissers, C. Coarfa, M. Goodell, 2023, bioRxiv.

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

L. Vissers, U. Engelke, K. Coene, 2019, Journal of inherited metabolic disease.

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

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

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

L. Vissers, H. Peeters, J. Veltman, 2013, Human molecular genetics.

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

L. Vissers, A. Hoischen, C. Gilissen, 2023, medRxiv.

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

L. Vissers, R. Pfundt, N. de Leeuw, 2014, Genomics data.

A de novo paradigm for male infertility

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

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

L. Vissers, J. Veltman, K. Sekiguchi, 2011, PLoS genetics.

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

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

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, R. Gibbs, 2014, American journal of human genetics.

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2024, Nature medicine.