Wilbe M

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

Johansson J, Frykholm C, Ericson K, ..., Bondeson ML, Wilbe M

Am. J. Med. Genet. A 188 (6) 1676-1687 [2022-06-00; online 2022-02-15]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Stattin EL, Johansson J, Gudmundsson S, ..., Bondeson ML, Wilbe M

Am. J. Med. Genet. A 176 (6) 1405-1410 [2018-06-00; online 2018-04-16]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Wilbe M, Gudmundsson S, Johansson J, ..., Frykholm C, Bondeson ML

Prenat. Diagn. 37 (11) 1146-1154 [2017-11-00; online 2017-10-17]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Bondeson ML, Ericson K, Gudmundsson S, ..., Frykholm C, Wilbe M

Clin. Genet. 92 (5) 510-516 [2017-11-00; online 2017-05-03]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Collaborative]