Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Claire S. Leblond, Jutta Heinrich, Richard Delorme, +57

PLoS Genetics

Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder

Regina Waltes, Reinhard Kalb, Magtouf Gatei, +9

The American Journal of Human Genetics

Human Rad50 DeficiencyAutoimmune DiseaseGenetic DisorderPathologyDegenerative Disease +1

Nijmegen Breakage Syndrome mutations and risk of breast cancer

Natalia Bogdanova, Sergei Feshchenko, Peter Schürmann, +10

International Journal of Cancer

Genome InstabilityBreast OncologyNbs MutationsBreast Cancer SusceptibilityGenetic Disorder +8

ATM Protein-dependent Phosphorylation of Rad50 Protein Regulates DNA Repair and Cell Cycle Control

Magtouf Gatei, Burkhard Jakob, Philip Chen, +14

Journal of Biological Chemistry

ChromatinGenome InstabilityDna DamageMre11/rad50/nbn ComplexCell Regulation +9

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders

Regina Waltes, Eftichia Duketis, Michael Knapp, +17

Human Genetics

Neurodevelopmental DisordersAutism Spectrum DisordersSyndromic AutismGeneticsGenetic Disorder +13

Variants of the CNTNAP2 5′ promoter as risk factors for autism spectrum disorders: a genetic and functional approach

Andreas G. Chiocchetti, Marnie Kopp, Regina Waltes, +10

Molecular Psychiatry

Autism Spectrum DisordersNatural SciencesGeneticsCntnap2 5′Syndromic Autism +8

Missense Variants in <i>ATM</i> in 26,101 Breast Cancer Cases and 29,842 Controls

Olivia Fletcher, Nichola Johnson, Isabel dos‐Santos‐Silva, +85

Cancer Epidemiology Biomarkers & Prevention

Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model

Denise Haslinger, Regina Waltes, Afsheen Yousaf, +13

Molecular Autism

NBS1 variant I171V and breast cancer risk

Natalia Bogdanova, Peter Schürmann, Regina Waltes, +4

Breast Cancer Research and Treatment

Breast OncologyCancer RiskCancer EpidemiologyMedicinePathology +6

Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders

Andreas G. Chiocchetti, Denise Haslinger, Jason L. Stein, +8

Translational Psychiatry