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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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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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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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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, Article R110

2013

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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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Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma

Pigment cell and melanoma research, 2024-09

2024

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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.659-665

2013

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Decoupling of the PI3K Pathway via Mutation Necessitates Combinatorial Treatment in HER2+ Breast Cancer

PloS one, 2015-07, Vol.10 (7), p.e0133219-e0133219

2015

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Genetic structure of Europeans: a view from the North-East

PloS one, 2009-05, Vol.4 (5), p.e5472-e5472

2009

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Correction: Decoupling of the PI3K Pathway via Mutation Necessitates Combinatorial Treatment in HER2+ Breast Cancer

PloS one, 2017-10, Vol.12 (10), p.e0186551-e0186551

2017

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Regulation of heme oxygenase-1 by nitric oxide during hepatopulmonary syndrome

American journal of physiology. Lung cellular and molecular physiology, 2002-08, Vol.283 (2), p.346-L353

2002

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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

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

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

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

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

Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

Decoupling of the PI3K Pathway via Mutation Necessitates Combinatorial Treatment in HER2+ Breast Cancer

Genetic structure of Europeans: a view from the North-East

Correction: Decoupling of the PI3K Pathway via Mutation Necessitates Combinatorial Treatment in HER2+ Breast Cancer

Regulation of heme oxygenase-1 by nitric oxide during hepatopulmonary syndrome

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