Joakim Klar

Publications

• Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype
• Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
• SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
• Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
• Mutation in SNX10 gene leads to autosomal recessive osteopetrosis and formation of osteoclasts unable to resorb bone
• Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family
• Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
• Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
• A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
• Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
• Primary microcephaly, primordial dwarfism and brachydactyly in adult cases with bi‐allelic skipping of RTTN exon 42
• Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
• A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
• A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.
• Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.
• MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
• Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
• 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.
• Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.
• WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.
• Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
• Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment.
• Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
• Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.
• A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
• Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.
• Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
• Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
• Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease.
• Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
• Vascular endothelial growth factor B controls endothelial fatty acid uptake.
• Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.
• Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.
• A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
• Recurrent GATA1 mutations in Diamond-Blackfan anaemia.
• Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
• 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.
• Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
• Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association.
• Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.
• Frizzled6 deficiency disrupts the differentiation process of nail development.
• Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
• FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.
• A Single-Nucleotide Deletion in the 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.
• Alpha-cardiac actin mutations produce atrial septal defects.
• A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
• Vascular endothelial growth factor-B induces myocardium-specific angiogenesis and arteriogenesis via vascular endothelial growth factor receptor-1- and neuropilin receptor-1-dependent mechanisms.
• Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
• Positional Cloning of Disease Causing Genes: A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease
• A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.
• Familial Ménière's disease in five generations.
• A Meniere's disease gene linked to chromosome 12p12.3.
• Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
• Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
• Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.
• Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene.
• Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.
• The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
• Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia
• Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs.
• Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
• Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.
• Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
• Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
• Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.
• Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
• A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
• Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.
• DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.