Publications
Download CSV
Download XLSX
Download TXT
Tables
2025 (109)
2024 (906)
2023 (887)
2022 (836)
2021 (893)
2020 (640)
2019 (727)
2018 (651)
2017 (681)
2016 (664)
2015 (429)
2014 (376)
2013 (319)
2012 (245)
2011 (163)
2010 (139)
2000 (2)
1977 (2)
All (8669)
Infrastructure Units
Infrastructure Units list
Infrastructure Units table
Researchers
Subset
Documentation
About
Contact
Software
Login
Am. J. Med. Genet. A
JSON
ISSN
1552-4833
ISSN-L
1552-4825
IUID
560fa5f762cf4b52a5855d5984acad93
Modified
2020-11-27T13:14:05.302Z
Created
2017-05-09T09:12:01.509Z
Year 2024
PubMed
DOI
Crossref
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.
Maya-González C
, Delgado-Vega AM,
Taylan F
, ..., Martinsson T, Nordgren A
Am. J. Med. Genet. A
194
(12) e63812 [2024-12-00; online 2024-07-11]
Clinical Genomics [Service]
Clinical Genomics Stockholm [Service]
PubMed
DOI
Crossref
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.
Batkovskyte D
, Swolin-Eide D, Hammarsjö A, ..., Åström E, Grigelioniene G
Am. J. Med. Genet. A
-
(-) e63935 [2024-11-08; online 2024-11-08]
Clinical Genomics [Service]
Clinical Genomics Stockholm [Service]
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 [Service]
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 Support for Computational Resources [Service]
Clinical Genomics [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 [Service]
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 Support for Computational Resources [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 Support for Computational Resources [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 Support for Computational Resources [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 Support for Computational Resources [Service]
Clinical Genomics [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
SciLifeLab Data Centre
Publications
9.5.1