Am. J. Med. Genet. A

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

Zhang C, Mazzeu JF, Eisfeldt J, ..., Sutton VR, Carvalho CMB

Am. J. Med. Genet. A - (-) - [2020-10-13; online 2020-10-13]

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

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

Plesser Duvdevani M, Pettersson M, Eisfeldt J, ..., Lindstrand A, Harel T

Am. J. Med. Genet. A 182 (5) 1143-1151 [2020-05-00; online 2020-03-03]

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

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Topa A, Rohlin A, Andersson MK, ..., Stenman G, Kölby L

Am. J. Med. Genet. A - (-) - [2019-12-14; online 2019-12-14]

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

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Pettersson M, Bergendal B, Norderyd J, ..., Nordgren A, Lindstrand A

Am. J. Med. Genet. A 173 (5) 1396-1399 [2017-05-00; online 2017-03-20]

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

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, ..., Nishimura G, Grigelioniene G

Am. J. Med. Genet. A 170A (1) 266-269 [2016-01-00; online 2015-10-01]

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

Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.

Liedén A, Kvarnung M, Nilssson D, Sahlin E, Lundberg ES

Am. J. Med. Genet. A 164A (12) 3083-3087 [2014-12-00; online 2014-09-25]

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

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G, Geiberger S, Horemuzova E, ..., Nordgren A, Mäkitie O

Am. J. Med. Genet. A 164A (7) 1635-1641 [2014-07-00; online 2014-03-29]

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

WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N

Am. J. Med. Genet. A 164A (2) 353-359 [2014-02-00; online 2014-01-23]

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

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML

Am. J. Med. Genet. A 155A (6) 1217-1224 [2011-06-00; online 2011-05-07]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation.

Razzaghian HR, Shahi MH, Forsberg LA, ..., Westerman MP, Dumanski JP

Am. J. Med. Genet. A 152A (10) 2595-2598 [2010-10-00; online 2010-08-25]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure