Lara Segebrecht

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech et al. · Genetics in Medicine · 2019 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

VarFish: comprehensive DNA variant analysis for diagnostics and research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen et al. · Nucleic Acids Research · 2020 · 78 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach et al. · The American Journal of Human Genetics · 2019 · 71 citations · Full text

Medicine, Genetics, Molecular Genetics +10

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag et al. · The American Journal of Human Genetics · 2017 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht et al. · Human Genetics · 2018 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16