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 · 73 citations · Full text

VarFish: comprehensive DNA variant analysis for diagnostics and research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen et al. · Nucleic Acids Research · 2020 · 69 citations · Full text

Genetics, Molecular Genetics, Genomics +18

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 · 68 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +8

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 · 64 citations · Full text

Mendelian Disorder, Mitochondrial Dysfunction, Genetic Disorder +10

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 · 60 citations · Full text

Channelopathies, Genetic Variants, Genetic Disorder +8