Author details

Full Name

Jarmo KÃ¶rkkÃ¶

Affiliation

ORCID

Career Start Year

1993

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37179546	Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.		2023
35087184	A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.	Eur J Hum Genet	2022
31506600	Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.	Eur J Hum Genet	2020
30679432	Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.	Nat Commun	2019
30914828	Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.	Eur J Hum Genet	2019
29861106	Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.	Am J Hum Genet	2018
26974950	Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.	Nat Neurosci	2016
17078022	Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.	Hum Mutat	2007
15827564	Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density.	European Journal of Human Genetics	2005
15241796	Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.	Human Mutation	2004
15593085	Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).		2004
14561710	Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.	Journal of Clinical Investigation	2003
12511349	Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.	Ophthalmology	2003
12429250	Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.	American Journal of Ophthalmology	2002
11826022	Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.	Journal of Medical Genetics	2002
11706004	Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.	Journal of Biological Chemistry	2002
11704682	Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen.	Journal of Biological Chemistry	2002
11286811	Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta.	Archives of Oral Biology	2001
11746045	Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.	American Journal of Medical Genetics	2001
11553849	MicroSAGE analysis of 2,353 expressed genes in a single cell-derived colony of undifferentiated human mesenchymal stem cells reveals mRNAs of multiple cell lineages.	Stem Cells	2001
10797431	Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.	American Journal of Medical Genetics	2000
10486316	Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.	Am J Hum Genet	1999
9443882	Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele	American Journal of Human Genetics	1998
9465076	Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.	Proceedings of the National Academy of Sciences of the United States of America	1998
9452086	Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1.	Human Mutation	1998
9067755	Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.	Hum Mutat	1997
8723096	Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).	American Journal of Medical Genetics	1996
8702176	Complete structure of the human COL11A2 gene: the exon sizes and other features indicate the gene has not evolved with genes for other fibriller collagens.	Annals of the New York Academy of Sciences	1996
7612049	Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.		1995
8317498	Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)	American Journal of Human Genetics	1993