Publications by authors named "Astrid Plomp"

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Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort.
Melanie Haverkamp, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, Pim A de Jong, Astrid S Plomp

J Invest Dermatol· December 2025

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Astrid S Plomp

J Clin Invest· November 2025

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Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM).
Jonathan Hensman, Mary J van Schooneveld, Roselie M H Diederen, Astrid S Plomp, Cansu de Muijnck

Ophthalmic Genet· October 2025

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Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.
Yousra El Ghaleb, Monica L Fernández-Quintero, Marta Campiglio, Petronel Tuluc, Ann-Sophie Höing, Astrid S Plomp

PLoS Genet· August 2025

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Syndromic retinitis pigmentosa.
Jessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, Astrid S Plomp, Ronald J A Wanders

Prog Retin Eye Res· July 2025

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Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.
Kae R Whiting, Lonneke Haer-Wigman, Ralph J Florijn, Ronald van Beek, Machteld M Oud, Astrid S Plomp

Eur J Hum Genet· November 2024

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Astrid S Plomp

Am J Hum Genet· August 2024

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Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Pam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, Adriana I Iglesias Gonzales, Carel B Hoyng, Astrid S Plomp

Invest Ophthalmol Vis Sci· August 2024

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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Astrid S Plomp

HGG Adv· July 2024

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Leber's hereditary optic neuropathy like disease in variant m.8969G>A.
Cansu de Muijnck, Mary J van Schooneveld, Astrid S Plomp, Richard J Rodenburg, Maria M van Genderen

Am J Ophthalmol Case Rep· June 2024

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Jennifer Kerkhof, Cassandra Rastin, Michael A Levy, Raissa Relator, Haley McConkey, Astrid Plomp

Genet Med· May 2024

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The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Brett M Colbert, Cris Lanting, Molly Smeal, Susan Blanton, Derek M Dykxhoorn, Astrid Plomp

Hum Genet· May 2024

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Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.
Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S Plomp, Arthur A Bergen, Maria M van Genderen

Int J Mol Sci· April 2023

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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Suzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben-Yosef, Janine Reurink, Astrid S Plomp

Genet Med· March 2023

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Astrid S Plomp

Hum Mutat· November 2022

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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Astrid S Plomp

Hum Mutat· July 2022

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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Alexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, Zahide Alaçam, Laurence Faivre, Astrid S Plomp

Eur J Hum Genet· March 2022

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Michael A Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Astrid S Plomp

HGG Adv· January 2022

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Astrid S Plomp

Hum Genet· July 2021

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Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a duplication: A case report.
Carline E Tacke, Suzanne W J Terheggen-Lagro, Annemieke M Boot, Astrid S Plomp, Abeltje M Polstra

Bone Rep· June 2021

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Molecular Inversion Probe-Based Sequencing of Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Janine Reurink, Adrian Dockery, Dominika Oziębło, G Jane Farrar, Monika Ołdak, Astrid S Plomp

Int J Mol Sci· June 2021

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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Astrid S Plomp

Brain· December 2020

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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Päivi Vieira, Naemeh Nayebzadeh, Astrid S Plomp

Genet Med· October 2019

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Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.
Luc Cozijnsen, Astrid S Plomp, Jan G Post, Gerard Pals, Natalija Bogunovic

Mol Genet Genomic Med· October 2019

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Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Sanne K Verbakel, Ramon A C van Huet, Anneke I den Hollander, Maartje J Geerlings, Eveline Kersten, Astrid S Plomp

Invest Ophthalmol Vis Sci· March 2019

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