Mol Genet Genomic Med

Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.

Dobloug S, Kjellström U, Anderson G, ..., Sheth J, Puschmann A

Mol Genet Genomic Med 12 (8) e2505 [2024-08-00; online 2024-08-07]

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.

Thuresson AC, Brazina J, Akram T, ..., Soussi Zander C, Caldecott KW

Mol Genet Genomic Med 12 (1) e2295 [2024-01-00; online 2023-11-02]

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.

Henry OJ, Stödberg T, Båtelson S, ..., Stranneheim H, Wedell A

Mol Genet Genomic Med 11 (7) e2167 [2023-07-00; online 2023-03-26]

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.

Rydzanicz M, Olszewski P, Kedra D, ..., Dumanski JP, Płoski R

Mol Genet Genomic Med 9 (1) e1526 [2021-01-00; online 2020-12-14]

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.

Clewemar P, Hailer NP, Hailer Y, ..., Ljunggren Ö, Stattin EL

Mol Genet Genomic Med 7 (7) e00723 [2019-07-00; online 2019-05-16]

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.

Lundin J, Markljung E, Baranowska Körberg I, ..., Lindstrand A, Nordenskjöld A

Mol Genet Genomic Med 7 (6) e666 [2019-06-00; online 2019-05-01]