Mol Genet Genomic Med

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 - (-) e1526 [2020-12-14; online 2020-12-14]

Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Myers L, Blyth M, Moradkhani K, ..., Anderlid BM, Tammimies K

Mol Genet Genomic Med 8 (1) e1013 [2020-01-00; online 2019-11-15]

Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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]

Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.

Maffezzini C, Laine I, Dallabona C, ..., Wredenberg A, Wedell A

Mol Genet Genomic Med 7 (6) e654 [2019-06-00; online 2019-03-28]

Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

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]

Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Exome sequencing in 51 early onset non-familial CRC cases

Thutkawkorapin J, Lindblom A, Tham E

Mol Genet Genomic Med - (-) e605 [2019-02-27; online 2019-02-27]

Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Laurell T, Nilsson D, Hofmeister W, ..., Grigelioniene G, Nordgren A

Mol Genet Genomic Med 2 (5) 402-411 [2014-09-00; online 2014-05-14]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure