Astrid S Plomp

Camiel J F Boon 4 collaborations

Raymond J Louie 3 collaborations

Lisenka E L M Vissers 3 collaborations

Arthur A Bergen 2 collaborations

Maria M van Genderen 2 collaborations

Lonneke Haer-Wigman 2 collaborations

Carel B Hoyng 2 collaborations

A S Plomp 2 collaborations

Haley McConkey 2 collaborations

Jennifer Kerkhof 2 collaborations

Gerarda Cappuccio 2 collaborations

Laurence Faivre 2 collaborations

Gijs W E Santen 2 collaborations

Siddharth Banka 2 collaborations

Nicola Brunetti-Pierri 2 collaborations

Philippe M Campeau 2 collaborations

David Genevieve 2 collaborations

Giuseppe Merla 2 collaborations

Antonio Vitobello 2 collaborations

Marielle Alders 2 collaborations

Matthew L Tedder 2 collaborations

Bekim Sadikovic 2 collaborations

Ingrid M B H van de Laar 2 collaborations

Frank J Kaiser 2 collaborations

Christel Depienne 2 collaborations

Alexander J M Dingemans 2 collaborations

Bert B A de Vries 2 collaborations

Janine Reurink 2 collaborations

G Jane Farrar 2 collaborations

Ronald J E Pennings 2 collaborations

L Ingeborgh van den Born 2 collaborations

Hanka Venselaar 2 collaborations

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Susanne Roosing 2 collaborations

Hannie Kremer 2 collaborations

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Affiliations

Publications (17)

Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.

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

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

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

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

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

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

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

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

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

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

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

Molecular Inversion Probe-Based Sequencing of

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

Leber's hereditary optic neuropathy like disease in

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

Réseau de co-auteurs