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Clin. Genet.
JSON
ISSN
1399-0004
ISSN-L
0009-9163
IUID
6246328bbcde4d3abb32308222a0048d
Modified
2020-11-27T13:12:53.496Z
Created
2018-12-05T11:56:15.930Z
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]
PubMed
DOI
Crossref
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, ..., Dollfus H,
Muller J
Clin. Genet.
99
(2) 318-324 [2021-02-00; online 2020-11-14]
Year 2019
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]
PubMed
DOI
Crossref
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A
, Uva P, Oppo M, ..., Rutsch F,
Crisponi L
Clin. Genet.
95
(5) 607-614 [2019-05-00; online 2019-03-28]
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]
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]
DOI
Crossref
Front Cover
Kvarnung M
,
Taylan F
, Nilsson D, ..., Nordgren A, Lundberg ES
Clin. Genet.
94
(6) - [2018-12-00; online 2018-11-14]
PubMed
DOI
Crossref
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.
Tariq M, Khan TN, Lundin L, ..., Dahl N,
Klar J
Clin. Genet.
93
(1) 182-186 [2018-01-00; online 2017-11-21]
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]
PubMed
DOI
Crossref
Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.
Thuresson AC, Van Buggenhout G, Sheth F, ..., Clayton Smith J, Soussi Zander C
Clin. Genet.
91
(1) 106-110 [2017-01-00; online 2016-06-02]
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 2015-03-04]
Affiliated researcher
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 2014-09-08]
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Publications
9.5.1