H. Venselaar

发表

The future of HOPE: what can and cannot be predicted about the molecular effects of a disease causing point mutation in a protein?

Tim A. H. te Beek, Remko K. P. Kuipers, F. Camilli, 2011 .

Homology modelling and spectroscopy, a never-ending love story

Bas Vroling, Gert Vriend, Hanka Venselaar, 2009, European Biophysics Journal.

Functional Analysis of the Kv1.1 N255D Mutation Associated with Autosomal Dominant Hypomagnesemia*

Hanka Venselaar, H. Venselaar, J. Hoenderop, 2009, The Journal of Biological Chemistry.

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

S. Robertson, J. Celli, J. D. den Dunnen, 2010, American journal of human genetics.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

R. Pfundt, M. Reijnders, B. D. de Vries, 2017, American journal of human genetics.

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

G. van Ommen, Annemieke Aartsma-Rus, H. Venselaar, 2016, Brain : a journal of neurology.

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa

A. D. den Hollander, F. Cremers, H. Venselaar, 2012, Molecular vision.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

C. Klaver, F. Riemslag, A. D. den Hollander, 2013, Ophthalmology.

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

M. Peppelman, P. Jansen, H. Venselaar, 2018, Genetics in Medicine.

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.

Cellular and Molecular Life Sciences REVIEW The alpha-kinase family: an exceptional branch on the protein kinase tree

M. Huynen, H. Venselaar, F. V. van Leeuwen, 2022 .

Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics

G. Vriend, J. Veltman, C. Gilissen, 2017, Human mutation.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

M. Huynen, A. Beynon, P. Lichtner, 2018, Human Genetics.

Human dectin-1 deficiency and mucocutaneous fungal infections.

Trees Jansen, L. Jacobs, L. Joosten, 2009, The New England journal of medicine.

The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss

G. Vriend, H. Venselaar, J. Bok, 2014, Open Biology.

Project HOPE. Providing the last piece of the puzzle

H. Venselaar, 2012 .

Submembranous recruitment of creatine kinase B supports formation of dynamic actin-based protrusions of macrophages and relies on its C-terminal flexible loop.

M. Willemse, H. Pluk, J. Fransen, 2015, European journal of cell biology.

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

H. Venselaar, A. Bertoli-Avella, E. de Graaff, 2011, American journal of human genetics.

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

C. Cremers, T. Strom, H. Kremer, 2011, Journal of the Association for Research in Otolaryngology.

LRP5 variants may contribute to ADPKD

A. Hoischen, J. Veltman, C. Gilissen, 2015, European Journal of Human Genetics.

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome

Hanka Venselaar, Raheel Qamar, Saemah Nuzhat Zafar, 2015, neurogenetics.

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

H. Venselaar, L. Kluijtmans, J. Hoenderop, 2014, Journal of the American Society of Nephrology : JASN.

Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions.

H. Venselaar, A. M. van den Maagdenberg, F. Russel, 2013, Biochimica et biophysica acta.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

L. Vreede, R. Kuiper, C. V. van Ravenswaaij-Arts, 2013, Gastroenterology.

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

A. D. den Hollander, F. Cremers, L. Hoefsloot, 2013, Clinical genetics.

T cell receptor fused to CD3ζ: Transmembrane domain of CD3ζ prevents TCR mis-pairing, whereas complete CD3ζ directs functional TCR expression

H. Venselaar, R. Debets, C. Govers, 2011 .

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.

Mass Spectrometry Analysis of Hepcidin Peptides in Experimental Mouse Models

D. Swinkels, H. Tjalsma, B. Dutilh, 2011, PloS one.

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

E. van Wijk, T. Peters, H. Kremer, 2022, NPJ genomic medicine.

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

R. Rodenburg, H. Venselaar, J. Smeitink, 2012, Biochimica et biophysica acta.

Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63

S. Somlo, H. Venselaar, E. Waanders, 2010, Clinical genetics.

Hydrolase 2 Homologous to the Archaeal Catenane CS Acidithiobacillus thiooxidans Strains Are Hydrolases from 2 Bacterial CS

H. Venselaar, A. Pol, M. Jetten, 2013 .

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features

D. Swinkels, H. Venselaar, H. Hamdi-Rozé, 2019, Pharmaceuticals.

Structural model of a putrescine-cadaverine permease from Trypanosoma cruzi predicts residues vital for transport and ligand binding.

H. Venselaar, Radika Soysa, B. Ullman, 2013, The Biochemical journal.

Variation in Genes of β-glucan Recognition Pathway and Susceptibility to Opportunistic Infections in HIV-Positive Patients

L. Joosten, M. Netea, H. Venselaar, 2011, Immunological investigations.

A dsRNA-binding protein of a complex invertebrate DNA virus suppresses the Drosophila RNAi response

H. Venselaar, R. V. van Rij, A. W. Bronkhorst, 2014, Nucleic acids research.

Dominant missense mutations in ABCC9 cause Cantú syndrome

Stef van Lieshout, G. Vriend, E. Cuppen, 2012, Nature Genetics.

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

D. Nickerson, Joshua D. Smith, M. Bamshad, 2019, Human mutation.

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Jonathan A. Cooper, E. Haan, D. Nickerson, 2018, American journal of human genetics.

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

J. Schuurs-Hoeijmakers, M. Genuardi, T. Kleefstra, 2022, European journal of medical genetics.

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by mutations in USH2A exon 13

E. van Wijk, T. Peters, H. Kremer, 2020 .

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

D. Swinkels, C. Jaspers, H. Venselaar, 2008, Blood cells, molecules & diseases.

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

G. Vriend, G. Pals, D. Milewicz, 2015, Human mutation.

Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome

M. P. van den Berg, P. van der Harst, G. Navis, 2018, Circulation research.

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

H. Antonicka, R. Rodenburg, Woranontee Weraarpachai, 2011, European Journal of Human Genetics.

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2008, Human Genetics.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

Investigating the active site of human trimethyllysine hydroxylase.

H. Venselaar, J. Mecinović, Yali Wang, 2019, The Biochemical journal.

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

F. Riemslag, A. D. den Hollander, F. Cremers, 2009, Investigative ophthalmology & visual science.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

J. Lupski, D. Muzny, S. Jhangiani, 2015, American journal of human genetics.

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

G. Vriend, H. Venselaar, Myengmo Kang, 2009, Physiological genomics.

Clinical and molecular characterizations of novel POU 3 F 4 mutations reveal that DFN 3 is due to null function of POU 3 F 4 protein

G. Vriend, H. Venselaar, Myengmo Kang, 2009 .

Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis

M. Jaeger, M. Oosting, L. Joosten, 2014, Front. Microbiol..

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.

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Gert Vriend, Hanka Venselaar, Maarten L. Hekkelman, 2010, BMC Bioinformatics.

Modulation of spectral properties and pump activity of proteorhodopsins by retinal analogues.

K. Hellingwerf, H. Venselaar, H. D. de Groot, 2015, The Biochemical journal.

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Rutger O. Vogel, M. Huynen, H. Venselaar, 2009, American journal of human genetics.

Functional characterization of TBR1 variants in neurodevelopmental disorder

P. Deriziotis, S. Fisher, H. Venselaar, 2018, Scientific Reports.

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.

Point Mutation Approach to Reduce Antigenicity of Interferon Beta

M. Behmanesh, H. Venselaar, A. Fazeli, 2019, International Journal of Peptide Research and Therapeutics.

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.

Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

A. Beynon, E. van Wijk, H. Kremer, 2015, Ear and hearing.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

E. van Wijk, H. Kremer, F. Cremers, 2021, International journal of molecular sciences.

Identification of a novel MET mutation in high-grade glioma resulting in an auto-active intracellular protein

T. Wurdinger, B. Tops, P. Wesseling, 2015, Acta Neuropathologica.

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

R. Rodenburg, H. Venselaar, L. Nijtmans, 2017, Human mutation.

Negative Constraints Underlie the ErbB Specificity of Epidermal Growth Factor-like Ligands*

G. Vriend, S. Nabuurs, H. Venselaar, 2006, Journal of Biological Chemistry.

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

C. V. D. Schoot, J. Dongen, R. Kuiper, 2017, Leukemia.

Status quo of annotation of human disease variants

Gert Vriend, Hanka Venselaar, Franscesca Camilli, 2013, BMC Bioinformatics.

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

J. Schuurs-Hoeijmakers, S. Antonarakis, R. Płoski, 2021, Genetics in Medicine.

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome‐like phenotype and hypogammaglobulinemia

G. Vriend, R. Pfundt, T. Rinne, 2017, American journal of medical genetics. Part A.

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

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

Phosphorylation target site specificity for AGC kinases DMPK E and lats2

B. Wieringa, H. Venselaar, D. G. Wansink, 2012, Journal of cellular biochemistry.

The moonlighting function of pyruvate carboxylase resides in the non-catalytic end of the TIM barrel.

G. Vriend, Daphne H. E. W. Huberts, I. J. van der Klei, 2010, Biochimica et biophysica acta.

De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

H. Brunner, D. Chitayat, H. Venselaar, 2015, Clinical genetics.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Mutations in a TGF- b Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

J. Timmermans, B. Beverloo, L. Pardo, 2015 .

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.

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Julian N. Selley, G. G. Galli, H. Venselaar, 2015, Human molecular genetics.

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

G. Vriend, G. Pals, S. Bierma-Zeinstra, 2011, Nature Genetics.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

S. Leal, C. Cremers, G. Vriend, 2008, American journal of human genetics.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

F. Cremers, L. Hoefsloot, H. Venselaar, 2010, Human mutation.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

F. Cremers, F. Raymond, H. Venselaar, 2016, Investigative ophthalmology & visual science.

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

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

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

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

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

H. Brunner, G. Mancini, H. Venselaar, 2018, Molecular genetics & genomic medicine.

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

G. Vriend, Hee-Jin Kim, C. Ki, 2013, PloS one.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Barbara N. Pusey, Janice S. Lee, A. V. Vulto-van Silfhout, 2015, American journal of human genetics.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

R. Pfundt, H. Brunner, H. Bokhoven, 2009, Journal of Medical Genetics.

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

H. Hakonarson, J. A. Taylor, H. Brunner, 2021, medRxiv.

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.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

J. Belmont, K. Devriendt, Z. Rahimi, 2012, Circulation research.

Novel GANAB variants associated with polycystic liver disease

A. Hoischen, R. Roepman, H. Venselaar, 2020, Orphanet Journal of Rare Diseases.

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.

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

J. Christodoulou, H. Venselaar, R. Wevers, 2021, Genetics in Medicine.

Bacterial CS2 Hydrolases from Acidithiobacillus thiooxidans Strains Are Homologous to the Archaeal Catenane CS2 Hydrolase

H. Venselaar, T. Barends, H. O. D. op den Camp, 2013, Journal of bacteriology.

Membrane Topology and Intracellular Processing of Cyclin M2 (CNNM2)*

H. Venselaar, S. Laínez, J. Hoenderop, 2012, The Journal of Biological Chemistry.

Membrane Topology and Intracellular Processing of Cyclin

H. Venselaar, S. Laínez, J. Hoenderop, 2012 .

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.

Role of the C-terminal linear region of EGF-like growth factors in ErbB specificity

H. Venselaar, Saskia Jacobs-Oomen, J. E. V. van Leeuwen, 2009, Growth factors.

Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma

B. Tops, P. Wesseling, H. Venselaar, 2016, Scientific Reports.

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

Rutger O. Vogel, M. Huynen, R. Rodenburg, 2010, Cell metabolism.

Bifunctional protein PCBD2 operates as a co‐factor for hepatocyte nuclear factor 1β and modulates gene transcription

M. Vermeulen, H. Venselaar, P. Jansen, 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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.

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

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

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.

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

A. Hoischen, H. Venselaar, R. Wevers, 2020, Journal of inherited metabolic disease.

Highly conserved nucleotide phosphatase essential for membrane lipid homeostasis in Streptococcus pneumoniae

Samantha L. van der Beek, J. Veening, H. Venselaar, 2016, Molecular microbiology.

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

R. Rodenburg, H. Venselaar, S. Wortmann, 2014, European Journal of Human Genetics.

NewProt – a protein engineering portal

Jaroslav Bendl, Jan Stourac, Gert Vriend, 2017, Protein engineering, design & selection : PEDS.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy

G. Pruijn, J. Veltman, H. Prokisch, 2017, Human mutation.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

T. Strom, H. Venselaar, R. Maroofian, 2020, Genetics in Medicine.

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

H. Venselaar, M. Duno, F. Wibrand, 2014, JIMD reports.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

J. Roach, B. D. de Vries, K. Prescott, 2015, American journal of human genetics.

CAD mutations and uridine-responsive epileptic encephalopathy

T. Meitinger, T. Strom, H. Prokisch, 2017, Brain : a journal of neurology.

Chapter 2 . 3 Mutations in a TGFß ligand , TGFB 3 , cause syndromic aortic aneurysms and dissections Mutations in TGFB 3 cause syndromic aortic aneurysms and dissections

M. Goumans, K. Devriendt, J. Timmermans, 2019 .

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

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

A germ line mutation in cathepsin B points toward a role in asparaginase pharmacokinetics.

R. Kuiper, H. Venselaar, E. Waanders, 2014, Blood.

An Overview of the Putative Structural and Functional Properties of the GHBh1 Receptor through a Bioinformatics Approach

J. Homberg, A. Schellekens, H. Venselaar, 2023, Life.

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

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

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

E. van Wijk, H. Kremer, P. Adamson, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

G. Vriend, C. Morton, H. Venselaar, 2012, Journal of Molecular Medicine.

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

G. Vriend, T. Friedrich, H. Venselaar, 2014, European Journal of Human Genetics.

Role of the α-Kinase Domain in Transient Receptor Potential Melastatin 6 Channel and Regulation by Intracellular ATP*

H. Venselaar, J. Hoenderop, R. Bindels, 2008, Journal of Biological Chemistry.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

T. Strom, C. Kim, H. Venselaar, 2020, Genetics in Medicine.

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

G. Vriend, C. Morton, H. Venselaar, 2012, Journal of Molecular Medicine.

The structure-function relationship of the Aspergillus fumigatuscyp51A L98H conversion by site-directed mutagenesis: the mechanism of L98H azole resistance.

W. Melchers, H. Venselaar, E. Snelders, 2011, Fungal genetics and biology : FG & B.

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

N. Ameziane, H. Venselaar, A. Bertoli-Avella, 2021, Journal of Medical Genetics.

Retinal-Based Proton Pumping in the Near Infrared

K. Hellingwerf, H. Venselaar, H. D. de Groot, 2017, Journal of the American Chemical Society.

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa

E. van Wijk, H. Kremer, H. Venselaar, 2023, Molecular therapy. Nucleic acids.

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.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

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

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

Heterozygous Loss-of-Function Mutations in DLL 4 Cause Adams-Oliver Syndrome Report

J. Roach, K. Prescott, P. Itin, 2018 .

Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum

A. Geerts, H. Venselaar, A. Hoorens, 2023, Genes.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

F. Cremers, L. Hoefsloot, H. Venselaar, 2010, Human mutation.

De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

H. Kayserili, H. Venselaar, H. Yntema, 2015, Clinical genetics.

A Gate Hinge Controls the Epithelial Calcium Channel TRPV5

C. E. Paulsen, H. Venselaar, J. Hoenderop, 2017, Scientific Reports.

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

Rutger O. Vogel, M. Huynen, R. Rodenburg, 2010, Cell metabolism.

The NewProt Self-Service Portal for Protein Engineering

Gert Vriend, Peter Haase, Andreas Schwarte, 2014, SWAT4LS.

Role of the -Kinase Domain in Transient Receptor Potential Melastatin 6 Channel and Regulation by Intracellular ATP*

H. Venselaar, J. Hoenderop, R. Bindels, 2008 .

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

J. Schuurs-Hoeijmakers, R. Pfundt, M. Netea, 2024, American journal of human genetics.

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

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

Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9

H. Venselaar, E. de Vrieze, S. Broekman, 2023, Hearing Research.

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.