Anne‐Karin Kahlert

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz, Stephanie Spranger, Diana Mitter et al. · Genetics in Medicine · 2016 · 104 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +7

Association Between Loss-of-Function Mutations Within the <i>FANCM</i> Gene and Early-Onset Familial Breast Cancer

Guido Neidhardt, Jan Hauke, Juliane Ramser et al. · JAMA Oncology · 2016 · 84 citations · Full text

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

Masin Abo-Rady, Norman Kalmbach, Arun Pal et al. · Stem Cell Reports · 2020 · 63 citations · Full text

Reduces Levels, C9orf72-als Pathogenesis, Signal Transduction +12

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

Bioinformatics, Developmental Anomaly, Mendelian Disorder +13

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

Marija Dulovic‐Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy et al. · The American Journal of Human Genetics · 2019 · 46 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Genetics +7