Sinje Geuer

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

Katerina Kraft, Sinje Geuer, Anja J. Will et al. · Cell Reports · 2015 · 227 citations · Full text

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

Sandra Jansen, Sinje Geuer, Rolph Pfundt et al. · The American Journal of Human Genetics · 2017 · 74 citations · Full text

Mendelian Disorder, Genetic Disorder, Intellectual Disability Syndrome +8

Noncoding copy-number variations are associated with congenital limb malformation

Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer et al. · Genetics in Medicine · 2017 · 52 citations · Full text

Developmental Anomaly, Thumb Hypoplasia, Developmental Biology +6

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer et al. · The American Journal of Human Genetics · 2020 · 47 citations · Full text

Developmental Biology, Cause Neurodevelopmental Delay, Genetic Disorder +9

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou et al. · The American Journal of Human Genetics · 2021 · 44 citations · Full text

Epileptic Encephalopathy, Mendelian Disorder, Genetic Disorder +9