J. Med. Genet.

ISSN	1468-6244
ISSN-L	0022-2593
IUID	09ecddaa61bc46749cf860c0a8777580
Modified	2020-11-27T13:14:03.217Z
Created	2017-05-09T09:12:34.653Z

Year 2023

PubMed DOI Crossref

Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.

Baliakas P, Munters AR, Kämpe A, ..., Ladenvall C, Eriksson D

J. Med. Genet. - (-) - [2023-08-14; online 2023-08-14]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative]

Year 2021

PubMed DOI Crossref

Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.

Ain NU, Baroncelli M, Costantini A, ..., Mäkitie O, Naz S

J. Med. Genet. 58 (5) 351-356 [2021-05-00; online 2020-06-26]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2020

PubMed DOI Crossref

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Pontén E, Frisk S, Taylan F, ..., Lagerstedt-Robinson K, Nordgren A

J. Med. Genet. - (-) jmedgenet-2020-107385 [2020-11-18; online 2020-11-18]

Clinical Genomics Stockholm [Service]

Year 2016

PubMed DOI Crossref

Mutations in HECW2 are associated with intellectual disability and epilepsy.

Halvardson J, Zhao JJ, Zaghlool A, ..., Thuresson AC, Feuk L

J. Med. Genet. 53 (10) 697-704 [2016-10-00; online 2016-06-22]

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

Year 2015

PubMed DOI Crossref

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

Freyer C, Stranneheim H, Naess K, ..., Wredenberg A, Wedell A

J. Med. Genet. 52 (11) 779-783 [2015-11-00; online 2015-06-19]

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

PubMed DOI Crossref

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.

Klar J, Schuster J, Khan TN, ..., Baig SM, Dahl N

J. Med. Genet. 52 (9) 599-606 [2015-09-00; online 2015-07-05]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

PubMed DOI Crossref

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Wilbe M, Ekvall S, Eurenius K, ..., Annerén G, Bondeson ML

J. Med. Genet. 52 (3) 195-202 [2015-03-00; online 2015-01-22]

Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

PubMed DOI Crossref

CTNND2-a candidate gene for reading problems and mild intellectual disability.

Hofmeister W, Nilsson D, Topa A, ..., Syk Lundberg E, Lindstrand A

J. Med. Genet. 52 (2) 111-122 [2015-02-00; online 2014-12-05]

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

Year 2014

PubMed DOI Crossref

High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

Helgadottir H, Höiom V, Jönsson G, ..., Olsson H, Hansson J

J. Med. Genet. 51 (8) 545-552 [2014-08-00; online 2014-06-18]

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

PubMed DOI Crossref

Haplotypes of the inducible nitric oxide synthase gene are strongly associated with exhaled nitric oxide levels in adults: a population-based study.

Dahgam S, Modig L, Torinsson Naluai Å, Olin AC, Nyberg F

J. Med. Genet. 51 (7) 449-454 [2014-07-00; online 2014-04-15]

Mutation Analysis Facility (MAF)

PubMed DOI Crossref

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand A, Grigelioniene G, Nilsson D, ..., Mäkitie O, Nordgren A

J. Med. Genet. 51 (1) 45-54 [2014-01-00; online 2013-11-10]

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

Year 2013

PubMed DOI Crossref

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Kvarnung M, Nilsson D, Lindstrand A, ..., Nordenskjöld M, Nordgren A

J. Med. Genet. 50 (8) 521-528 [2013-08-00; online 2013-05-03]

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

PubMed DOI Crossref

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.

Forsberg LA, Absher D, Dumanski JP

J. Med. Genet. 50 (1) 1-10 [2013-01-00; online 2012-11-23]

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