A. Plomp

发表

Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

J. G. Post, G. Pals, L. Cozijnsen, 2019, Molecular genetics & genomic medicine.

Ocular albinism with infertility and late‐onset sensorineural hearing loss

W. Dreschler, A. Plomp, H. Vorum, 2018, American journal of medical genetics. Part A.

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability

F. Baas, H. Meijers-Heijboer, A. Plomp, 2017, Retina.

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

B. J. Klevering, C. Klaver, A. D. den Hollander, 2019, Investigative ophthalmology & visual science.

Mutations in ABCC6 cause pseudoxanthoma elasticum

M. Kool, F. Baas, S. Terry, 2000, Nature Genetics.

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.

B. J. Klevering, C. Klaver, F. Cremers, 2014, Investigative ophthalmology & visual science.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

L. Aaltonen, A. Palotie, M. Kurki, 2019, Genetics in Medicine.

Clinical and genetic aspects of pseudoxanthoma elasticum

A. Plomp, 2009 .

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

Does autosomal dominant pseudoxanthoma elasticum exist?

P. D. de Jong, A. Plomp, A. Bergen, 2004, American journal of medical genetics. Part A.

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

P. D. de Jong, J. Wijnholds, A. Plomp, 2003, Survey of ophthalmology.

ABCC6 and pseudoxanthoma elasticum

A. Plomp, T. Gorgels, A. Bergen, 2007, Pflügers Archiv - European Journal of Physiology.

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6

S. Terry, A. Plomp, A. Bergen, 2009, Genetics in Medicine.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

T. Rosenberg, J. Heckenlively, D. Birch, 2016, Scientific Reports.

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

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.

Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

P. D. de Jong, A. Plomp, A. Bergen, 2003, Investigative ophthalmology & visual science.

Complete COL1A1 allele deletions in osteogenesis imperfecta

G. Pals, H. Meijers-Heijboer, A. Plomp, 2010, Genetics in Medicine.

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide‐gated channel

S. Jacobson, A. Plomp, A. Janecke, 2010, Human mutation.

Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

P. D. de Jong, A. Plomp, T. Gorgels, 2004, Genetic testing.

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

J. Wijnholds, A. Plomp, A. Bergen, 2003, European Journal of Human Genetics.

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.

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

B. Lorenz, P. D. de Jong, A. Plomp, 2007, Molecular vision.

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.

A. Plomp, J. Geraedts, J. Vles, 1998, American journal of medical genetics.

L1 retrotransposition can occur early in human embryonic development.

P. D. de Jong, F. Cremers, L. Hoefsloot, 2007, Human molecular genetics.

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

F. Baas, P. Wesseling, A. Plomp, 2007, American journal of human genetics.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

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.

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

H. Brunner, R. Brandão, A. Paulussen, 2021, medRxiv.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

R. Pfundt, J. Hehir-Kwa, M. Nelen, 2016, European Journal of Human Genetics.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

P. D. de Jong, A. Plomp, A. Bergen, 2010, American journal of medical genetics. Part A.

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

P. Deriziotis, S. Fisher, N. Matsumoto, 2017, Human mutation.

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 .

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.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

F. Baas, J. Auwerx, H. Waterham, 2017, bioRxiv.

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Mark T. Handley, I. Jackson, I. Glass, 2013, Human mutation.

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

C. Klaver, F. Cremers, C. Hoyng, 2018, Investigative ophthalmology & visual science.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

delineation of Malan syndrome.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018 .

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2003 .

Pfeiffer syndrome type 2: further delineation and review of the literature.

J. Fryns, A. Verloes, A. Plomp, 1998, American journal of medical genetics.

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones

P. D. de Jong, A. Plomp, H. Kingston, 2008, Molecular vision.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

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

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].

A. Plomp, T. Gorgels, A. Bergen, 2004, Nederlandsch tijdschrift voor geneeskunde.

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

A. Plomp, C. D. de Die-Smulders, J. Engelen, 1998, Journal of Medical Genetics.

Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.

J. Fryns, A. Plomp, J. Sijstermans, 1995, Genetic counseling.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

C. Bodemer, M. Kempers, A. Plomp, 2013, Orphanet Journal of Rare Diseases.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

H. Smeets, A. Plomp, C. D. de Die-Smulders, 2006, American journal of ophthalmology.

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies

A. Plomp, A. Bergen, Xuan-Thanh-An Nguyen, 2023, International journal of molecular sciences.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Golder N Wilson, E. Roeder, D. Horn, 2020, Brain : a journal of neurology.

A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.

A. Zwinderman, A. Plomp, A. H. Zwinderman, 2013, Atherosclerosis.

An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

W. Reardon, D. Taylor, A. Plomp, 2000, Clinical Dysmorphology.

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.

A novel lamin a/c mutation in a Dutch family with premature atherosclerosis

A. Zwinderman, A. Plomp, M. Mannens, 2013 .

Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

J. Fryns, A. Plomp, C. D. de Die-Smulders, 1995, Genetic counseling.