Clin. Genet.

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]

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]

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]

Affiliated researcher

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]

Affiliated researcher

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]

Affiliated researcher

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

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]