Klar J

Family name	Klar
Given name	Joakim
Initials	J
ORCID	ORCID 0000-0003-4185-7409
Affiliations	Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.

15 publications

PubMed DOI Crossref

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications.

Schuster J, Lu X, Dang Y, ..., Dahl N, Chen X

Elife 12 (-) - [2024-08-27; online 2024-08-27]

DOI Crossref

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster J, Lu X, Dang Y, ..., Dahl N, Chen X

Elife 12 (-) - [2024-08-27; online 2024-08-27]

DOI Crossref

Author response: Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster J, Lu X, Dang Y, ..., Dahl N, Chen X

- - (-) - [2024-08-13; online 2024-08-13]

DOI Crossref

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster J, Lu X, Dang Y, ..., Dahl N, Chen X

- - (-) - [2024-08-13; online 2024-08-13]

DOI Crossref

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster J, Lu X, Dang Y, ..., Dahl N, Chen X

- - (-) - [2023-12-27; online 2023-12-27]

DOI Crossref

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster J, Lu X, Dang Y, ..., Dahl N, Chen X

- - (-) - [2023-10-10; online 2023-10-10]

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]

PubMed DOI Crossref

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.

Klar J, Engstrand-Lilja H, Maqbool K, ..., Feuk L, Dahl N

BMC Med Genomics 13 (1) 85 [2020-06-26; online 2020-06-26]

PubMed DOI Crossref

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.

Clewemar P, Hailer NP, Hailer Y, ..., Ljunggren Ö, Stattin EL

Mol Genet Genomic Med 7 (7) e00723 [2019-07-00; online 2019-05-16]

PubMed DOI Crossref

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N

Eur. J. Hum. Genet. 26 (12) 1871-1874 [2018-12-00; online 2018-09-24]

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]

PubMed DOI Crossref

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

Klar J, Piontek J, Milatz S, ..., Günzel D, Dahl N

PLoS Genet 13 (7) e1006897 [2017-07-00; online 2017-07-07]

PubMed DOI Crossref

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Stattin EL, Henning P, Klar J, ..., Wikström J, Lerner UH

Sci Rep 7 (1) 3012 [2017-06-07; online 2017-06-07]

PubMed DOI Crossref

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

Klar J, Ali Z, Farooq M, ..., Baig SM, Dahl N

Eur. J. Hum. Genet. 25 (7) 848-853 [2017-06-00; online 2017-05-10]

PubMed DOI Crossref

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

Klar J, Raykova D, Gustafson E, ..., Wanders A, Dahl N

Eur. J. Hum. Genet. 23 (12) 1679-1683 [2015-12-00; online 2015-03-18]