H. Kroes

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

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

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls

R. Hochstenbach, M. Poot, A. D. den Hollander, 2011, Clinical dysmorphology.

Yield of additional metabolic studies in neurodevelopmental disorders

R. Berger, T. D. de Koning, P. V. van Hasselt, 2008, Annals of neurology.

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.

B. Hamel, G. Salieb-Beugelaar, T. Letteboer, 2006, American journal of human genetics.

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

C. Klaver, F. Cremers, C. Hoyng, 2021, Acta ophthalmologica.

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

O. Gabrielli, C. Wallgren‐Pettersson, A. De Paepe, 2009, Human mutation.

Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

J. Engelen, H. Kroes, J. de Pater, 2005, Prenatal diagnosis.

Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum a

R. Hennekam, C. Antignac, A. Kariminejad, 2010 .

R. Berger, T. D. de Koning, P. V. van Hasselt, 2009 .

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

C. Klaver, B. Lorenz, C. Hoyng, 2018, Investigative ophthalmology & visual science.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

R. Siebert, J. Martín-Subero, R. Hochstenbach, 2010, European journal of medical genetics.

Year : 2009 Genotyping Microarray for CSNB-Associated Genes

J. Sahel, B. Lorenz, E. Zrenner, 2010 .

Genotyping microarray for CSNB-associated genes.

J. Sahel, B. Lorenz, E. Zrenner, 2009, Investigative ophthalmology & visual science.

Two cases of the caudal duplication anomaly including a discordant monozygotic twin.

R. Hofstra, A. V. van Essen, J. Baert, 2002, American journal of medical genetics.

Additional mitochondrial DNA mutations may explain extra‐ocular involvement in LHON

I. D. de Coo, H. Smeets, P. D. de Jong, 2006, American journal of medical genetics. Part A.

Non-invasive sources of cells with primary cilia from pediatric and adult patients

I. V. van Rooij, R. Giles, N. Knoers, 2015, Cilia.

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

M. Tejada, M. Ruzhnikov, E. Brimble, 2021, Human mutation.

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.

J. Osinga, R. Hofstra, R. Hofstra, 1999, American journal of human genetics.

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

C. Klaver, A. Bergen, M. V. van Schooneveld, 2011, Ophthalmology.

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

K. Devriendt, M. Thiry, A. De Paepe, 2016, Genetics in Medicine.

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

M. Kempers, V. Verhoeven, J. M. van de Kamp, 2017, European journal of medical genetics.

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

W. Engel, M. Patel, A. Bottani, 1999, Journal of medical genetics.

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

D. Lindhout, B. Poll-The, M. S. van der Knaap, 2010, International journal of pediatric otorhinolaryngology.

Bilateral posterior lamellar corneal transplant surgery in an infant of 17 weeks old: Surgical challenges and the added value of intraoperative optical coherence tomography

P. V. van Hasselt, R. Wisse, H. Kroes, 2021, Clinical case reports.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

T. de Ravel, H. Van Esch, I. Casteels, 2010, Human mutation.

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

T. de Ravel, B. Menten, I. Casteels, 2011, Investigative ophthalmology & visual science.

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

P. Thelwall, N. Simmons, J. Sayer, 2014, Proceedings of the National Academy of Sciences.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Colin A. Johnson, I. Glass, S. Bowdin, 2015, Journal of Medical Genetics.

Joubert syndrome in the Netherlands. Clinical and genetic aspects

H. Kroes, 2014 .

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

H. Brunner, F. Cremers, S. Yzer, 2003, Journal of medical genetics.

Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly.

D. Duffy, N. Martin, D. Boomsma, 2006, American journal of human genetics.

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.

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.

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).

R. Hordijk, H. Kroes, L. T. ten Kate, 1994, Journal of medical genetics.

Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships

P. Barth, K. Sollie, H. Kroes, 2004, American journal of medical genetics. Part A.

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

B. J. Klevering, J. Hehir-Kwa, T. Strom, 2011, Investigative ophthalmology & visual science.

Molecular analysis in a large cohort of patients with anterior segment malformations: expanding the spectrum of FOXC1/PITX2 mutations and copy number changes

B. Menten, I. Casteels, R. Oldenburg, 2010 .

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Joubert syndrome: genotyping a Northern European patient cohort

W. Kloosterman, B. van der Zwaag, R. Giles, 2015, European Journal of Human Genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Dandy‐Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)

R. Hochstenbach, M. Poot, G. Hageman, 2007, American journal of medical genetics. Part A.

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

J. Veltman, S. Letteboer, R. Roepman, 2009, American journal of human genetics.

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

I. Glass, H. Brunner, S. Letteboer, 2007, Nature Genetics.

Healthcare recommendations for Joubert syndrome

I. Glass, W. Zein, E. Valente, 2019, American journal of medical genetics. Part A.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin

R. Gooskens, R. Nievelstein, H. Kroes, 2010, European journal of neurology.

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.

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

M. Nelen, R. Sinke, D. Lindhout, 2008, European journal of medical genetics.

AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions.

R. Hochstenbach, M. Poot, H. Kroes, 2008, European journal of medical genetics.

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.

OFD 1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA 5-Encoded Lebercilin

J. Veltman, S. Letteboer, R. Roepman, 2009 .

Is There an Association between Maternal Carbamazepine Use during Pregnancy and Eye Malformations in the Child?

J. Reefhuis, H. Kroes, Martina C. Cornel, 2002, Epilepsia.

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

G. Assmann, P. Cullen, H. Hahmann, 1998, Nature Genetics.

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.

C. Klaver, A. D. den Hollander, F. Cremers, 2010, Investigative ophthalmology & visual science.

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.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

R. Pfundt, J. Hehir-Kwa, C. Klaver, 2017, European Journal of Human Genetics.

Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

C. Stoll, A. Rosano, P. Mastroiacovo, 2004, American journal of medical genetics. Part A.

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.

F. Bartolomei, P. Striano, A. Coppola, 2021, Brain : a journal of neurology.

Disclosure of individual genetic data to research participants: the debate reconsidered.

Edwin Cuppen, Johannes J M van Delden, Annelien L Bredenoord, 2011, Trends in genetics : TIG.

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.

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

J. Veltman, A. D. den Hollander, F. Cremers, 2010, Investigative ophthalmology & visual science.

Ophthalmological aspects of Pierson syndrome.

Dorothy A. Thompson, R. Hennekam, M. Zenker, 2008, American journal of ophthalmology.

Mitochondrial dysfunction in a patient with Joubert syndrome.

H. van Bokhoven, J. Smeitink, L. P. Van den Heuvel, 2005, Neuropediatrics.

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

C. Bergmann, R. Nievelstein, F. Beemer, 2005, American journal of medical genetics. Part A.

Early-onset renal cell cancer and bilateral epididymal cysts as presenting symptoms of von Hippel-Lindau disease.

A. H. van der Hout, H. Kroes, A. van den Berg, 1998, British journal of urology.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rachel L. Taylor, P. Pouwels, R. Houwen, 2018, Human molecular genetics.

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.

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

D. Misceo, T. Nyman, B. Dalhus, 2023, Brain : a journal of neurology.

Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?

Gabriëlle H S Buitendijk, B. J. Klevering, A. Hofman, 2017, American journal of ophthalmology.

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

A. V. van Essen, H. Kroes, G. Pals, 2003, Clinical genetics.

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.

A. Bottani, P. Burfeind, J. Kohlhase, 1999 .

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

R. Siebert, J. Martín-Subero, R. Hochstenbach, 2010, European journal of medical genetics.

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls

R. Hochstenbach, M. Poot, A. D. den Hollander, 2011, Clinical dysmorphology.

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

C. Klaver, B. Lorenz, C. Hoyng, 2018, Investigative ophthalmology & visual science.

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.

R. Roepman, M. Oud, L. Haer-Wigman, 2024, European journal of human genetics : EJHG.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

L. Vissers, R. Pfundt, E. Bacchelli, 2024, American journal of human genetics.