Muhammad Zakaria

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

S. Baig, N. Dahl, J. Schuster, 2020, International Journal of Hematology.

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

G. Annéren, N. Dahl, M. Shahsavani, 2020, Clinical Epigenetics.

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

A. Noegel, S. Baig, P. Nürnberg, 2020, Molecular genetics & genomic medicine.

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

S. Baig, N. Dahl, J. Wikström, 2019, Human mutation.