Dahl, Niklas

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., et al. (1999) · Nature Genetics

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 795

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

Laporte, J., Hu, L. J., Kretz, C., Mandel, J.-L., Kioschis, P., Coy, J. F., Klauck, S. M., Poustka, A., & Dahl, N. (1996) · Nature Genetics

Muscle Physiology and DisordersProtein Tyrosine Phosphatases

Cited by 639

The ribosomal basis of diamond-blackfan anemia: mutation and database update

Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., et al. (2010) · Human Mutation

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 233

A combined approach for single-cell mRNA and intracellular protein expression analysis

Reimegård, J., Tarbier, M., Danielsson, M., Schuster, J., Baskaran, S., Panagiotou, S., Dahl, N., Friedländer, M. R., & Gallant, C. J. (2021) · Communications Biology

Single-cell and spatial transcriptomicsRNA Research and Splicing

Cited by 129

Prognosis and clinical presentation of BRCA2-associated breast cancer

Loman, N., Johannsson, O., Bendahl, P.-O., Dahl, N., Einbeigi, Z., Gerdes, A.-M., Borg, Å., & Olsson, H. (2000) · European Journal of Cancer

BRCA gene mutations in cancerBreast Lesions and Carcinomas

Cited by 46

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Laan, L., Klar, J., Sobol, M., Hoeber, J., Shahsavani, M., Kele, M., Fatima, A., Zakaria, M., Annerén, G., Falk, A., et al. (2020) · Clinical Epigenetics

Down syndrome and intellectual disability researchEpigenetics and DNA Methylation

Cited by 33

Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

Fineschi, S., Klar, J., Gustafsson, K. A., Jonsson, K., Karlsson, B., & Dahl, N. (2022) · Frontiers in Immunology

Fibromyalgia and Chronic Fatigue Syndrome ResearchPain Mechanisms and Treatments

Cited by 31

Screening for copy number alterations in loci associated with autism spectrum disorders by two‐color multiplex ligation‐dependent probe amplification

Bremer, A., Giacobini, M., Nordenskjöld, M., Brøndum‐Nielsen, K., Mansouri, M., Dahl, N., Anderlid, B., & Schoumans, J. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 17