Rebecca Buchert

18PUBLICATIONS
256CO-AUTHORS
Infant and child healthVision scienceGenome structure and regulationGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (18)

|Sep 17, 2026
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.

|Sep 16, 2026
Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.

|Sep 16, 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

|Sep 10, 2026
Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Benita Menden, Rana D Incebacak Eltemur, German Demidov

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Frequent Collaborators

9 joint publications

Tobias Haack

4 joint publications

Henry Houlden

3 joint publications

Stephanie Efthymiou

3 joint publications

Suzanne Lesage