Mol Genet Genomic Med

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

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

Mol Genet Genomic Med - (-) e2295 [2023-11-02; online 2023-11-02]

Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Examining neurodevelopmental problems in 15q11.2 (BP1-BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample.

Jonsson L, Martin J, Lichtenstein P, ..., Westberg L, Tammimies K

Mol Genet Genomic Med 11 (8) e2191 [2023-08-00; online 2023-05-08]

Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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]

Clinical Genomics Stockholm [Service]

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]

Bioinformatics Support for Computational Resources [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 Support for Computational Resources [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 Support for Computational Resources [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 Support for Computational Resources [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 7 (5) e605 [2019-05-00; online 2019-02-27]

Bioinformatics Support for Computational Resources [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