C. Gilissen

C. Gilissen, K. Reijnders, M. Weiss, 2023, European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

A. Hoischen, T. Strom, J. Veltman, 2010, American journal of human genetics.

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

T. Stevens, J. Veltman, R. Rodenburg, 2020, Hepatology.

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

L. Vreede, C. Gilissen, R. Kuiper, 2016, PLoS genetics.

Cantú syndrome is caused by mutations in ABCC9.

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, American journal of human genetics.

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.

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

R. Pfundt, B. D. de Vries, C. Gilissen, 2021, European Journal of Medical Genetics.

Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease

A. Hoischen, C. Gilissen, P. Arts, 2017, Clinical pharmacology and therapeutics.

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

R. Pfundt, H. Brunner, C. Gilissen, 2016, Genome Medicine.

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

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

A missense mutation underlies defective SOCS4 function in a family with autoimmunity

A. Hoischen, M. Netea, J. Berg, 2015, Journal of internal medicine.

Variants in CUL4B are Associated with Cerebral Malformations

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

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Tzung-Chien Hsieh, P. Krawitz, C. Gilissen, 2019, American journal of human genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

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

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

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

C. Gilissen, R. Sangermano, Mubeen Khan, 2020, International journal of molecular sciences.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

P. Calvas, N. Chassaing, C. Gilissen, 2020, Journal of Human Genetics.

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

A. Hoischen, F. Cremers, R. Płoski, 2019, Genes.

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

F. Grassmann, H. Stöhr, F. Cremers, 2019, Human mutation.

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

G. Vriend, A. Hoischen, I. V. van Rooij, 2017, Journal of dental research.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

R. Pfundt, B. D. de Vries, C. Gilissen, 2019, Genetics in Medicine.

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

A. Hoischen, H. Brunner, C. Gilissen, 2015, Journal of Medical Genetics.

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

F. Cremers, C. Gilissen, C. Hoyng, 2021, npj Genomic Medicine.

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

F. Cremers, C. Gilissen, C. Hoyng, 2021, Journal of Medical Genetics.

Exome sequencing identifies a novel and a recurrent BBS 1 mutation in Pakistani families with Bardet-Biedl syndrome

F. Cremers, C. Gilissen, K. Neveling, 2017 .

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

F. Cremers, Ahmed Sadeque, C. Gilissen, 2013, Molecular vision.

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

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

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

A. Hoischen, J. Veltman, C. Gilissen, 2014, Proceedings of the National Academy of Sciences.

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

F. Cremers, C. Gilissen, S. Roosing, 2022, Cells.

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.

F. Cremers, C. Gilissen, C. Hoyng, 2019, Investigative ophthalmology & visual science.

High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs.

Christian Gilissen, J. Veltman, C. Gilissen, 2010, Biomaterials.

BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia.

Christian Gilissen, C. Gilissen, A. V. van Kessel, 2010, Blood.

BTG 1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia

C. Gilissen, R. Kuiper, B. Scheijen, 2010 .

EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

A. Hoischen, Shin Lin, M. Snyder, 2016, The Journal of clinical investigation.

Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients

C. Gilissen, Huiqing Zhou, Z. Bian, 2019, Genes.

Osteo-transcriptomics of human mesenchymal stem cells: accelerated gene expression and osteoblast differentiation induced by vitamin D reveals c-MYC as an enhancer of BMP2-induced osteogenesis.

Christian Gilissen, Susanne Bauerschmidt, Ester Piek, 2010, Bone.

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

Ulrich C. Klostermeier, T. Rausch, J. Korbel, 2019, Cold Spring Harbor molecular case studies.

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

S. Mundlos, M. Spielmann, J. Veltman, 2015, Human mutation.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

R. Pfundt, H. Firth, H. Brunner, 2019, American journal of human genetics.

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

A. Hoischen, J. Attems, J. Veltman, 2018, Alzheimer's & Dementia.

C. Gilissen, J. Jansen, B. A. van der Reijden, 2016, PloS one.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

A. Hoischen, C. Cremers, H. Kremer, 2018, Genetics in Medicine.

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.

K. Kaestner, H. Kremer, C. Gilissen, 2021, Developmental cell.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

J. Veltman, B. Wirth, R. Sinke, 2013, American journal of human genetics.

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

R. Pfundt, N. de Leeuw, C. Gilissen, 2023, European Journal of Human Genetics.

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

Tomasz Stokowy, Mateusz Garbulowski, Torunn Fiskerstrand, 2016, Bioinform..

The effect of enamel matrix derivative (Emdogain®) on gene expression profiles of human primary alveolar bone cells

J. Jansen, C. Gilissen, R. Junker, 2014, Journal of tissue engineering and regenerative medicine.

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extra-oral halitosis

H. Omran, R. Rodenburg, C. Gilissen, 2017, Nature 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.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

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.

Front Cover, Volume 40, Issue 8

G. Vriend, J. Veltman, C. Gilissen, 2019, Human Mutation.

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

C. Gilissen, L. Rodriguez-Revenga, I. Madrigal, 2021, Genes.

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.

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

A. Hoischen, N. Drouot, J. Veltman, 2010, American journal of human genetics.

Nuclear receptors Nur77 and Nurr1 modulate mesenchymal stromal cell migration.

J. Veltman, C. Gilissen, A. ten Brinke, 2012, Stem cells and development.

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy.

A. Hoischen, M. Huynen, M. Netea, 2016, The Journal of allergy and clinical immunology.

Identification of C12orf4 as a gene for autosomal recessive intellectual disability

T Varilo, R. Roepman, C. Gilissen, 2017, Clinical 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.

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

U. Felbor, C. Gilissen, A. Acker-Palmer, 2016, Molecular Syndromology.

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

D. Misceo, C. Gilissen, A. Server, 2020, BMC Medical Genetics.

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

A. Hoischen, I. V. van Rooij, K. Devriendt, 2019, European Journal of Human Genetics.

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

H. Omran, R. Rodenburg, C. Gilissen, 2017, Nature Genetics.

Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity

A. Hoischen, H. Brunner, M. Peltonen, 2023, EBioMedicine.

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.

K. Buysse, I. Janssen, C. Gilissen, 2013, Clinical biochemistry.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

E. van Wijk, H. Kremer, F. Cremers, 2022, npj Genomic Medicine.

Comprehensive de novo mutation discovery with HiFi long-read sequencing

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

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

C. Klaver, L. Hoefsloot, C. Gilissen, 2023, Ophthalmology science.

A different balance in wnt-signaling in adult and fetal bone marrow-derived MSC

J. Veltman, C. V. D. Schoot, C. Gilissen, 2013 .

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

R. Pfundt, J. Howe, H. Brunner, 2023, Human molecular genetics.

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

A. Hoischen, F. Cremers, C. Gilissen, 2022, medRxiv.

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

R. Pfundt, N. de Leeuw, C. Gilissen, 2019, Genetics in Medicine.

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

E. Aller, J. Millán, C. Gilissen, 2016, Scientific Reports.

Integrated gene analyses of de novo mutations from 46,612 trios with 1 autism and developmental disorders 2

Trygve E Bakken, C. Gilissen, T. Nowakowski, 2021 .

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

A. Hoischen, R. Winqvist, K. Pylkäs, 2023, PLoS genetics.

Detecting de novo mutations in intellectual disability.

A. Hoischen, J. Veltman, H. Brunner, 2014 .

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

L. Vreede, C. Gilissen, R. Kuiper, 2017 .

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients

C. Gilissen, E. Ullah, J. Corominas, 2023, Genes.

Characterization of de novo Mutations in the Human Germline

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

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Population sequencing data reveal a compendium of mutational processes in human germline

Nicholette D. Palmer, S. Redline, E. Boerwinkle, 2021, Science.

Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

C. Gilissen, H. Scheffer, S. Vermeer, 2017, European Journal of Human Genetics.

Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression

R. Pfundt, S. Vernes, C. Gilissen, 2018, Human Genetics.

C. Gilissen, J. Jansen, B. A. van der Reijden, 2016, PloS one.

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

U. Felbor, C. Gilissen, A. Acker-Palmer, 2016, Molecular Syndromology.

Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing

A. Hoischen, C. Gilissen, D. Drichel, 2017, Journal of dental research.

Nuclear receptors Nur77 and Nurr1 modulate mesenchymal stromal cell migration.

J. Veltman, C. Gilissen, C. Voermans, 2012, Stem cells and development.

Immune deficiencies , infection , and systemic immune disorders Clinical , molecular , and cellular immunologic findings in patients with SP 110-associated veno-occlusive disease with immunodeficiency syndrome

J. Ziegler, S. Tangye, J. Church, 2012 .

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2020, Genetics in Medicine.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

M. Huynen, J. Veltman, R. Rodenburg, 2013, Human molecular genetics.

MicroRNA hsa-miR-135b regulates mineralization in osteogenic differentiation of human unrestricted somatic stem cells.

R. Agami, C. Gilissen, G. Adema, 2010, Stem cells and development.

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.

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Pieter B. T. Neerincx, J. Veltman, C. Gilissen, 2018, Nature Genetics.

Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double-strand break incidence

J. Veltman, C. Gilissen, D. Bodian, 2017, bioRxiv.

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

F. Cremers, Ahmed Sadeque, C. Gilissen, 2013, Molecular vision.

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

C. Gilissen, S. Roosing, J. Ruiz-Ederra, 2023, Frontiers in genetics.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

A. Hoischen, C. Cremers, H. Kremer, 2018, Genetics in Medicine.

Human Mutation

G. Vriend, J. Veltman, C. Gilissen, 2019 .

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

A. Hoischen, R. Pfundt, C. Gilissen, 2023, Nature communications.

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

A. Hoischen, R. Pfundt, C. Gilissen, 2023, JCI insight.

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

L. Vreede, C. Gilissen, R. Kuiper, 2016, PLoS genetics.