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Clin. Genet.
JSON
ISSN
1399-0004
ISSN-L
0009-9163
IUID
9d5808947b5543e28f9ec7c406da3255
Modified
2020-11-27T13:14:02.262Z
Created
2017-05-09T09:12:32.221Z
Year 2024
PubMed
DOI
Crossref
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Tvergaard NK, Tkemaladze T, Stödberg T, ...,
Tümer Z
, Bayat A
Clin. Genet.
106
(4) 427-436 [2024-10-00; online 2024-06-18]
Clinical Genomics Stockholm [Service]
PubMed
DOI
Crossref
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.
Gregersen PA
, Hammarsjö A,
Graversen L
, ..., Hellfritzsch MB, Grigelioniene G
Clin. Genet.
-
(-) - [2024-09-06; online 2024-09-06]
Clinical Genomics Stockholm [Service]
PubMed
DOI
Crossref
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
Batkovskyte D, Komatsu M, Hammarsjö A, ..., Nishimura G, Yamada T
Clin. Genet.
105
(1) 87-91 [2024-01-00; online 2023-08-24]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
Year 2021
PubMed
DOI
Crossref
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Thuresson AC
, Croft B, Hailer YD, ..., Harley VR,
Stattin EL
Clin. Genet.
99
(2) 325-329 [2021-02-00; online 2020-11-12]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Uppsala [Service]
Year 2019
PubMed
DOI
Crossref
Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM
Clin. Genet.
96
(6) 560-565 [2019-12-00; online 2019-08-21]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
PubMed
DOI
Crossref
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.
Frisk S, Taylan F, Blaszczyk I, ..., Laurell T, Nordgren A
Clin. Genet.
96
(2) 118-125 [2019-08-00; online 2019-05-09]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
PubMed
DOI
Crossref
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Thuresson AC
, Soussi Zander C, Zhao JJ, ..., Öhrner Y,
Feuk L
Clin. Genet.
95
(3) 436-439 [2019-03-00; online 2018-12-07]
Clinical Genomics Uppsala [Collaborative]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
Year 2018
PubMed
DOI
Crossref
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M
,
Taylan F
, Nilsson D, ..., Nordgren A, Lundberg ES
Clin. Genet.
94
(6) 528-537 [2018-12-00; online 2018-10-15]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
Year 2017
PubMed
DOI
Crossref
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
Bondeson ML, Ericson K, Gudmundsson S, ..., Frykholm C,
Wilbe M
Clin. Genet.
92
(5) 510-516 [2017-11-00; online 2017-05-03]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Uppsala [Collaborative]
NGI Uppsala (Uppsala Genome Center) [Service]
National Genomics Infrastructure [Service]
Tissue Profiling [Collaborative]
PubMed
DOI
Crossref
A genetic risk score is significantly associated with statin therapy response in the elderly population.
Ciuculete DM, Bandstein M, Benedict C, ..., Schiöth HB, Mwinyi J
Clin. Genet.
91
(3) 379-385 [2017-03-00; online 2016-12-13]
Bioinformatics Support for Computational Resources [Service]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
Year 2016
PubMed
DOI
Crossref
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
Kvarnung M, Taylan F, Nilsson D, ..., Nordgren A, Syk Lundberg E
Clin. Genet.
89
(1) 99-103 [2016-01-00; online 2015-02-14]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
Year 2015
PubMed
DOI
Crossref
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.
Tham E, Nishimura G, Geiberger S, ..., Nordenskjöld M, Grigelioniene G
Clin. Genet.
87
(5) 496-498 [2015-05-00; online 2014-07-26]
NGI Stockholm (Genomics Applications)
NGI Stockholm (Genomics Production)
National Genomics Infrastructure
SciLifeLab Data Centre
Publications
9.5.1