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J. Körkkö · SciRah

Researcher profile · Semantic Scholar

J. Körkkö

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J. Körkkö — researcher profile on SciRah

h-index: 19
Works: 38
Citations: 3,804

Most-cited papers

Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen*
G. Dilullo, Shawn M. Sweeney, J. Körkkö, L. Ala‐kokko +1 more
2002Journal of Biological Chemistry879 citations Open access
Semantic Scholar
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
Joan C. Marini, A. Forlino, Wayne A. Cabral, Aileen M. Barnes +23 more
2007Human Mutation711 citations Open access
Semantic Scholar
Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders
T. Singh, M. Kurki, D. Curtis, S. Purcell +58 more
2016bioRxiv263 citations Open access
Semantic Scholar
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
S. Annunen, J. Körkkö, M. Czarny, M. Warman +21 more
1999American Journal of Human Genetics259 citations Open access
Semantic Scholar
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
M. Bastepe, L. Fröhlich, G. Hendy, O. Indridason +10 more
2003Journal of Clinical Investigation251 citations Open access
Semantic Scholar
Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.
J. Körkkö, S. Annunen, T. Pihlajamaa, D. Prockop +1 more
1998Proceedings of the National Academy of Sciences of the United States of America250 citations Open access
Semantic Scholar
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
T. Singh, M. Kurki, David Curtis, S. Purcell +58 more
2016Nature Neuroscience189 citations Open access
Semantic Scholar
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 mutations.
J. Körkkö, Leena Ala-Kokko, A. De Paepe, Lieve Nuytinck +2 more
1998American Journal of Human Genetics179 citations Open access
Semantic Scholar
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
A. Ganna, Kyle F. Satterstrom, S. Zekavat, I. Das +40 more
2017bioRxiv117 citations Open access
Semantic Scholar
Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.
E. Parma, J. Körkkö, W. Hagler, L. Ala‐kokko
2002American journal of ophthalmology-glaucoma90 citations
Semantic Scholar
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients
Heini Hartikka, K. Kuurila, J. Körkkö, I. Kaitila +4 more
2004Human Mutation83 citations Open access
Semantic Scholar
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)
J. Körkkö, P. Ritvaniemi, L. Haataja, H. Kääriäinen +3 more
1993American Journal of Human Genetics79 citations
Semantic Scholar
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
J. Körkkö, I. Kaitila, L. Lönnqvist, L. Peltonen +1 more
2002Journal of Medical Genetics73 citations Open access
Semantic Scholar
Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.
P. Ritvaniemi, J. Körkkö, J. Bonaventure, M. Vikkula +6 more
1995Arthritis & Rheumatism68 citations
Semantic Scholar
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
J. Körkkö, D. Cohn, L. Ala-Kokko, D. Krakow +1 more
2000American journal of medical genetics61 citations
Semantic Scholar
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
M. Kurki, E. Saarentaus, O. Pietiläinen, P. Gormley +22 more
2019Nature Communications46 citations Open access
Semantic Scholar
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
Tuija Löppönen, J. Körkkö, T. Lundán, U. Seppänen +2 more
2004Arthritis & Rheumatism44 citations
Semantic Scholar
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
C. Vu, Jeremiah Brown, J. Körkkö, R. Ritter +1 more
2003Ophthalmology (Rochester, Minn.)33 citations
Semantic Scholar
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one‐fifth are recurrent
J. Körkkö, H. Kuivaniemi, P. Paassilta, J. Zhuang +4 more
1997Human Mutation26 citations Open access
Semantic Scholar
Procollagen with Skipping of α1(I) Exon 41 Has Lower Binding Affinity for α1(I) C-telopeptide, Impaired in Vitro Fibrillogenesis, and Altered Fibril Morphology*
Wayne A. Cabral, A. Fertala, L. K. Green, J. Körkkö +2 more
2002Journal of Biological Chemistry16 citations Open access
Semantic Scholar
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
Elisa J. Rahikkala, L. Urpa, B. Ghimire, Hande Topa +16 more
2022European Journal of Human Genetics15 citations Open access
Semantic Scholar
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Daniel L. Polla, Elisa J. Rahikkala, Michaela K. Bode, T. Määttä +15 more
2019European Journal of Human Genetics13 citations Open access
Semantic Scholar
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
L. Urpa, M. Kurki, Elisa J. Rahikkala, E. Hämäläinen +16 more
2024European Journal of Human Genetics8 citations Open access
Semantic Scholar
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
Antti Tallgren, L. Kager, G. O'Grady, H. Tuominen +14 more
2023Frontiers in Neuroscience8 citations Open access
Semantic Scholar
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).
I. Kaitila, J. Körkkö, E. Marttinen, L. Ala‐kokko
1996American journal of medical genetics8 citations
Semantic Scholar
Use of conformation sensitive gel electrophoresis to detect single‐base changes in the gene for COL10A1
J. Körkkö, J. Milunsky, D. Prockop, L. Ala‐kokko
1998Human Mutation7 citations Open access
Semantic Scholar
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
M. Vuoristo, T. Pihlajamaa, P. Vandenberg, J. Körkkö +2 more
1996Annals of the New York Academy of Sciences7 citations
Semantic Scholar
Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland
M. Kurki, E. Saarentaus, O. Pietiläinen, P. Gormley +19 more
2018bioRxiv6 citations Open access
Semantic Scholar
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients
Heini Hartikka, K. Kuurila, J. Körkkö, I. Kaitila +4 more
20045 citations Open access
Semantic Scholar
Sequence Analysis of COL1A1 and COL1A2 Genes in Clinical Otosclerosis: No Evidence for Mutations in the Coding Regions of the Genes
M. McKenna, Arthur G. Kristiansen, J. Körkkö
2001Oto-Rhino-Laryngologia Nova3 citations
Semantic Scholar
Comparison of conformation sensitive gel electrophoresis with denaturing gradient gel electrophoresis for detection of single-base mutations in PCR products
J. Körkkö, T. Pihlajamaa, D. Prockop, L. Ala‐kokko
19963 citations
Semantic Scholar
Subject Index Vol. 11, 2001
R. Stramare, S. Puggina, F. Marino, H. de Maddalena +46 more
2003Oto-Rhino-Laryngologia Nova1 citations Open access
Semantic Scholar
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
Elisa J. Rahikkala, L. Urpa, B. Ghimire, Hande Topa +16 more
2022European Journal of Human Genetics0 citations Open access
Semantic Scholar
2. ENRICHMENT OF RARE, DAMAGING VARIANTS IN SCHIZOPHRENIA-RELATED GENES IN INTELLECTUAL DISABILITY PATIENTS WITH PSYCHOTIC DISORDERS
L. Urpa, M. Kurki, T. Singh, E. Hämäläinen +7 more
2022European Neuropsychopharmacology0 citations
Semantic Scholar
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Daniel L. Polla, Elisa J. Rahikkala, Michaela K. Bode, T. Määttä +15 more
2019European Journal of Human Genetics0 citations Open access
Semantic Scholar
Contents Vol. 11, 2001
R. Stramare, S. Puggina, F. Marino, H. de Maddalena +46 more
2003Oto-Rhino-Laryngologia Nova0 citations Open access
Semantic Scholar
The incidence of mutations in the COL2A1 gene in patients with cartilage disorders
P. Ritvaniemi, J. Körkkö, Jacky Bonaventure, M. Vikkula +3 more
19940 citations
Semantic Scholar
Polymerase chain reaction-denaturing gradient gel electrophoresis screening for mutations in the COL1A1 gene in osteogenesis imperfecta
J. Körkkö, P. Ritvaniemi, K. Kivirikko, L. Ala‐kokko +1 more
19940 citations
Semantic Scholar

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L. Ala‐kokko×13
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