List of works - Joakim Klar

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

scientific article published on 09 November 2020

A Meniere's disease gene linked to chromosome 12p12.3.

scientific article published in July 2006

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

scientific article published in April 2010

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

scientific article published in March 2009

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

scientific article published on 01 September 2006

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

scientific article

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

scientific article

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

scientific article published on 01 July 2012

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

scientific article

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

scientific article

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

scientific article

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

scientific article

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

scientific article published on 21 April 2010

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis

scientific article published in 2014

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

scientific article published on 08 June 2007

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.

scientific article

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

scientific article

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

scientific article

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

scientific article published on 16 May 2019

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome ⬇️

scientific article published on March 30, 2011

Familial Ménière's disease in five generations.

scientific article published in August 2006

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association ⬇️

scientific article published on October 7, 2010

Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease ⬇️

scientific article published on July 8, 2011

Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

scientific article published on 30 May 2019

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.

scientific article published on 7 July 2017

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

scientific article published on 6 December 2017

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

scientific article published on 27 May 2011

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

scientific article published on 22 January 2015

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

scientific article

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

scientific article

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

scientific article published in March 2012

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

scientific article published on 21 October 2016

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

scientific article

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

scientific article published on 18 March 2015

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

scientific article published on 11 February 2015

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

scientific article published on 24 May 2019

Recurrent GATA1 mutations in Diamond-Blackfan anaemia

scientific article published on 28 April 2014

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

scientific article

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

scientific article published on 24 September 2018

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

scientific article published on 13 April 2019

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

scientific article published on 21 August 2019

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.

scientific article

Vascular endothelial growth factor B controls endothelial fatty acid uptake.

scientific article published on 14 March 2010

WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

scientific article published on 25 November 2013

Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

scientific article

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

scientific article published on 04 July 2019

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

scientific article published on 26 June 2020

α-cardiac actin mutations produce atrial septal defects

October 2007 scholarly article in Human Molecular Genetics

List of works by Joakim Klar

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

A Meniere's disease gene linked to chromosome 12p12.3.

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

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

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

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

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

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

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome ⬇️

Familial Ménière's disease in five generations.

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association ⬇️

Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease ⬇️

Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

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

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

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

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

Recurrent GATA1 mutations in Diamond-Blackfan anaemia

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

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

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.

Vascular endothelial growth factor B controls endothelial fatty acid uptake.

WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

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

α-cardiac actin mutations produce atrial septal defects