Am. J. Med. Genet. A

ISSN	1552-4833
ISSN-L	1552-4825
IUID	560fa5f762cf4b52a5855d5984acad93
Modified	2020-11-27T13:14:05.302Z
Created	2017-05-09T09:12:01.509Z

Year 2023

PubMed DOI Crossref

Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.

Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G

Am. J. Med. Genet. A 191 (7) 1929-1934 [2023-07-00; online 2023-04-05]

Clinical Genomics Stockholm [Service]

Year 2022

PubMed DOI Crossref

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

Year 2021

PubMed DOI Crossref

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.

Botto LD, Meeths M, Campos-Xavier B, ..., Unger S, Superti-Furga A

Am. J. Med. Genet. A 185 (2) 517-527 [2021-02-00; online 2021-01-04]

Clinical Genomics Stockholm [Service]

Year 2020

PubMed DOI Crossref

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]

PubMed DOI Crossref

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]

Year 2019

PubMed DOI Crossref

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]

Year 2018

PubMed DOI Crossref

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

Year 2017

PubMed DOI Crossref

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]

Year 2016

PubMed DOI Crossref

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]

Year 2014

PubMed DOI Crossref

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

PubMed DOI Crossref

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

PubMed DOI Crossref

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

Year 2011

PubMed DOI Crossref

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

Year 2010

PubMed DOI Crossref

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