K. V. van Gassen

发表

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human 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.

The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy

I. Scheffer, H. Mefford, J. Cross, 2021, Epilepsia.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Ingo Borggraefe, Holger Lerche, Renzo Guerrini, 2017, Neurology.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

M. Farrer, I. Guella, M. Demos, 2017, American journal of human genetics.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

P. May, R. Krause, S. Haas, 2017, Brain : a journal of neurology.

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

N. Knoers, H. K. V. van Amstel, K. V. van Gassen, 2018, European Journal of Human Genetics.

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

L. H. van den Berg, J. Veldink, W. D. den Dunnen, 2012, Brain : a journal of neurology.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Katherine Mathews, Karin Panzer, Matthew Deardorff, 2015, American journal of human genetics.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Lisa T. Emrick, Julie C. Sapp, J. Rosenfeld, 2017, Genetics in Medicine.

High‐throughput phenotyping of avoidance learning in mice discriminates different genotypes and identifies a novel gene

B. Spruijt, D. Largaespada, O. Stiedl, 2012, Genes, brain, and behavior.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

Phenotyping mouse chromosome substitution strains reveal multiple QTLs for febrile seizure susceptibility

M. Kas, E. Hessel, P. Stienen, 2009, Genes, brain, and behavior.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American journal of human genetics.

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

M. Losekoot, M. Willemsen, K. V. van Gassen, 2020, JIMD reports.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

R. Pfundt, M. Reijnders, D. Schubert, 2019, bioRxiv.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

Hubertus C M T Prinsen, H. W. V. van Deutekom, J. Jans, 2020, Metabolites.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

E. Bertini, M. Karayiorgou, S. Lalani, 2019, American journal of human genetics.

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

L. D. de Vries, D. Craiu, E. Brilstra, 2017, European journal of paediatric neurology.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

J. Rosenfeld, Yaping Yang, J. Beuten, 2016, American journal of human genetics.

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Sharyn A. Lincoln, F. Zou, L. Medne, 2017, Journal of neurogenetics.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

R. Pfundt, J. Hehir-Kwa, E. Bongers, 2012, American journal of human genetics.

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

R. Pfundt, B. D. de Vries, I. Krantz, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Haploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures

W. Lamers, T. Hakvoort, P. de Graan, 2009, Genes, brain, and behavior.

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

D. Lafontaine, L. D. Da Costa, M. O'Donohue, 2022, Blood.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

H. Firth, S. Ellard, T. Roscioli, 2022, Human mutation.

Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

A. Balemans, K. V. van Gassen, P. V. van Hasselt, 2018, JIMD reports.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

L. de Meirleir, K. V. van Gassen, E. Scalais, 2019, JIMD reports.

The chemokine CCL2 modulates Ca2+ dynamics and electrophysiological properties of cultured cerebellar Purkinje neurons

J. G. Netzeband, D. Gruol, P. de Graan, 2005, The European journal of neuroscience.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Marni J. Falk, Donna M. Martin, R. Pfundt, 2019, American journal of human genetics.

Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

J. Jans, K. V. van Gassen, G. Visser, 2019, JIMD reports.

Identification of human D lactate dehydrogenase deficiency

P. Bosco, M. Durán, F. Calì, 2019, Nature Communications.

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.

K. V. van Gassen, P. V. van Hasselt, G. Visser, 2015, JIMD reports.

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.

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

J. Hurst, R. Scott, J. Giltay, 2017, Nature Genetics.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, American journal of human genetics.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Orrin Devinsky, Eric Marsh, Pasquale Striano, 2016, Journal of Medical Genetics.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2020, Journal of Human Genetics.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

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

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

W. Chung, E. Roeder, C. Saunders, 2020, American journal of medical genetics. Part A.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

V. Lefebvre, R. Bökenkamp, D. Barge-Schaapveld, 2022, Journal of Medical 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 variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

High‐resolution genetic mapping of mammalian motor activity levels in mice

M. G. Koerkamp, F. Holstege, H. Oppelaar, 2009, Genes, brain, and behavior.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Anke M Hövels, Peter M van Hasselt, Nanda M Verhoeven-Duif, 2016, Genetics in Medicine.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Mahshid S. Azamian, J. Rosenfeld, J. Gécz, 2019, Science Advances.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2017, Brain : a journal of neurology.

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

H. Prokisch, C. Fauth, T. Pippucci, 2018, Journal of Medical Genetics.

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

N. Knoers, H. K. V. van Amstel, K. V. van Gassen, 2018, European Journal of Human Genetics.

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

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.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

R. Pfundt, D. V. van Aalten, M. Kempers, 2017, The Journal of Biological Chemistry.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Points to consider for laboratories reporting results from diagnostic genomic sequencing

B. Knoppers, A. Clarke, K. Sénécal, 2017, European Journal of Human Genetics.

Analysis of laboratory reporting practices using a quality assessment of a virtual patient

M. Kriek, P. Borry, D. Vears, 2020, Genetics in Medicine.

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

T. Pandita, I. Thiffault, G. B. Schaefer, 2019, The Journal of clinical investigation.

Points to consider for laboratories reporting results from diagnostic genomic sequencing

K. Sénécal, P. Borry, D. Vears, 2017, European 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 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 variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

J. Schuurs-Hoeijmakers, R. Pfundt, B. D. de Vries, 2018, Clinical genetics.

The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a "virtual patient".

M. Kriek, P. Borry, D. Vears, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Golder N Wilson, I. Simonic, Soo-Mi Park, 2017, Journal of Medical Genetics.

Possible role of the innate immunity in temporal lobe epilepsy

M. G. Koerkamp, F. Holstege, P. V. van Rijen, 2008, Epilepsia.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

J. Clayton-Smith, D. Harris, J. Rivière, 2020, Journal of Medical Genetics.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

I. V. van Rooij, E. Bongers, R. Roepman, 2018, Pediatric Nephrology.

Aminoacyl-tRNA synthetase deficiencies in search of common themes

R. Houwen, P. Nikkels, M. D. De Vries, 2018, Genetics in Medicine.

Aminoacyl-tRNA synthetase deficiencies in search of common themes

R. Houwen, P. Nikkels, M. D. De Vries, 2018, Genetics in Medicine.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

O. Mäkitie, J. Carey, P. Bayrak-Toydemir, 2019, JCI insight.

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.

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

J. W. Bos, E. Cuppen, N. Knoers, 2020, European Journal of Human Genetics.

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

J. W. Bos, E. Cuppen, N. Knoers, 2019, European Journal of Human Genetics.

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Michael B. Stadler, S. Smallwood, J. Rivière, 2019, Cell stem cell.

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

M. Shinawi, P. Jayakar, A. Innes, 2019, European Journal of Human Genetics.

Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus

A. A. Kan, F. Holstege, Bart C. Jongbloets, 2015, PloS one.

Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, Annals of neurology.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, bioRxiv.

Characterization of febrile seizures and febrile seizure susceptibility in mouse inbred strains

B. Spruijt, G. Ramakers, E. Hessel, 2008, Genes, brain, and behavior.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency

J. Nicolai, K. V. van Gassen, E. Rubio-Gozalbo, 2021, Neurology.

Identification of C12orf4 as a gene for autosomal recessive intellectual disability

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

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

G. B. Schaefer, J. Winkelmann, K. Clark, 2020, Genetics in Medicine.

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

J. Jans, K. V. van Gassen, P. V. van Hasselt, 2016, JIMD reports.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

A. Munnich, B. Tüysüz, R. Maroofian, 2018, Nature Communications.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, Genetics in Medicine.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Hippocampal Navβ3 expression in patients with temporal lobe epilepsy

P. V. van Rijen, D. Lindhout, M. van Kempen, 2009, Epilepsia.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

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.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

R. Pfundt, J. Hehir-Kwa, E. Bongers, 2012, American journal of human genetics.

Identification of human D lactate dehydrogenase deficiency

P. Bosco, M. Durán, F. Calì, 2019, Nature Communications.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American Journal of Human Genetics.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

B. V. van Bon, R. Pfundt, H. Brunner, 2023, Journal of medical genetics.

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Sharyn A. Lincoln, F. Zou, L. Medne, 2017, Journal of neurogenetics.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

B. V. van Bon, L. Vissers, R. Pfundt, 2024, American journal of human genetics.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

R. Pfundt, F. Kortüm, C. Gilissen, 2024, American journal of human genetics.