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Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis

Osteoarthritis and cartilage, 2016-04, Vol.24 (4), p.655-663

2016

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The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis

Osteoarthritis and cartilage, 2005-06, Vol.13 (6), p.497-507

2005

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Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

American journal of human genetics, 2008-06, Vol.82 (6), p.1361-1367

2008

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Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.292-301

2005

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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Journal of medical genetics, 2004-01, Vol.41 (1), p.52-59

2004

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The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population

American journal of human genetics, 2008-12, Vol.83 (6), p.787-794

2008

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The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients

Acta dermato-venereologica, 2017-04, Vol.97 (4), p.456-463

2017

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A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Journal of medical genetics, 2003-12, Vol.40 (12), p.942-948

2003

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Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica

Pain (Amsterdam), 2005-03, Vol.114 (1), p.186-194

2005

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Consistently Replicating Locus Linked to Migraine on 10q22-q23

American journal of human genetics, 2008-05, Vol.82 (5), p.1051-1063

2008

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Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS

Human molecular genetics, 2009-05, Vol.18 (9), p.1670-1683

2009

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Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

American journal of medical genetics, 2004-03, Vol.125A (3), p.278-284

2004

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Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1166-1166

2005

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A recurrent r718w mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pat oqenetic overlap with collagen IX mutations

Journal of medical genetics, 2003, Vol.40 (12), p.942-948

2003

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Missense mutations in the ß strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Journal of medical genetics, 2004-01, Vol.41 (1), p.52-59

2004

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Missense mutations in the strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Journal of medical genetics, 2004-01, Vol.41 (1), p.52-59

Jackson, G C

2004

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Association of deranged cerebrovascular reactivity with brain injury following cardiac arrest: a post-hoc analysis of the COMACARE trial

Critical care (London, England), 2021-09, Vol.25 (1), p.350-350, Article 350

2021

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Subtype and pathway specific responses to anticancer compounds in breast cancer

Proceedings of the National Academy of Sciences - PNAS, 2012-02, Vol.109 (8), p.2724-2729

2012

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Modeling precision treatment of breast cancer

Genome biology, 2013-01, Vol.14 (10), p.R110-R110

2013

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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1713-1733

2014

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Subtypes of pancreatic ductal adenocarcinoma and their differing responses to therapy

Nature medicine, 2011-04, Vol.17 (4), p.500-503

2011

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Temporal dissection of tumorigenesis in primary cancers

Cancer discovery, 2011-07, Vol.1 (2), p.137-143

2011

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Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

American journal of human genetics, 2010-02, Vol.86 (2), p.285-291

2010

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Cross-platform pathway-based analysis identifies markers of response to the PARP inhibitor olaparib

Breast cancer research and treatment, 2012-09, Vol.135 (2), p.505-517

2012

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Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma

Proceedings of the National Academy of Sciences - PNAS, 2011-10, Vol.108 (43), p.17761-17766

2011

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Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis

The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population

The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica

Consistently Replicating Locus Linked to Migraine on 10q22-q23

Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

A recurrent r718w mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pat oqenetic overlap with collagen IX mutations

Missense mutations in the ß strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Missense mutations in the strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Association of deranged cerebrovascular reactivity with brain injury following cardiac arrest: a post-hoc analysis of the COMACARE trial

Subtype and pathway specific responses to anticancer compounds in breast cancer

Modeling precision treatment of breast cancer

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

Subtypes of pancreatic ductal adenocarcinoma and their differing responses to therapy

Temporal dissection of tumorigenesis in primary cancers

Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

Cross-platform pathway-based analysis identifies markers of response to the PARP inhibitor olaparib

Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma

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