Sabine Weidensee

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert et al. · PLoS ONE · 2018 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

Antje Kampmeier, Elsa Leitão, Ilaria Parenti et al. · Frontiers in Cell and Developmental Biology · 2023 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Fatima Abdelfattah, Ariana Kariminejad, Anne‐Karin Kahlert et al. · Human Mutation · 2020 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Pierpont syndrome: report of a new patient

Anne‐Karin Kahlert, Sabine Weidensee, Luisa Mackenroth et al. · Clinical Dysmorphology · 2017 · 19 citations

Life Sciences, Genetics, Molecular Genetics +13

Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the <i><scp>VPS</scp>13B</i> gene

Fadi Nasser, Anne Kurtenbach, Saskia Biskup et al. · Acta Ophthalmologica · 2019 · 13 citations · Full text

Medicine, Genetics, Ophthalmology +16