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A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

Clinical genetics, 2014-09, Vol.86 (3), p.229-237

2014

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Development of a blood-based molecular biomarker test for identification of schizophrenia before disease onset

Translational psychiatry, 2015-07, Vol.5 (7), p.e601-e601

2015

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Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

Clinical genetics, 2015-12, Vol.88 (6), p.533-541

2015

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Mesenchymal stem cells used for rabbit tendon repair can form ectopic bone and express alkaline phosphatase activity in constructs

Journal of orthopaedic research, 2004-09, Vol.22 (5), p.998-1003

2004

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Skeletal aspects of Gaucher disease: a review

British journal of radiology, 2002-01, Vol.75 Suppl 1 (suppl_1), p.A2-A12

2002

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Impact of homologous recombination deficiency biomarkers on outcomes in patients with triple-negative breast cancer treated with adjuvant doxorubicin and cyclophosphamide (SWOG S9313)

Annals of oncology, 2018-03, Vol.29 (3), p.654-660

2018

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Response to Cragun et al

Clinical genetics, 2015-08, Vol.88 (2), p.200-200

2015

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Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Genetics in medicine, 2010-10, Vol.12 (10), p.597-605

2010

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Bone complications in children with Gaucher disease

British journal of radiology, 2002-01, Vol.75 Suppl 1 (suppl_1), p.A37-A44

2002

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Type V Collagen Controls the Initiation of Collagen Fibril Assembly

The Journal of biological chemistry, 2004-12, Vol.279 (51), p.53331-53337

2004

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The Nf1 Tumor Suppressor Regulates Mouse Skin Wound Healing, Fibroblast Proliferation, and Collagen Deposited by Fibroblasts

Journal of investigative dermatology, 1999-06, Vol.112 (6), p.835-842

1999

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COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

American journal of human genetics, 2000-06, Vol.66 (6), p.1766-1776

2000

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Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta

Proceedings of the National Academy of Sciences - PNAS, 1993-03, Vol.90 (5), p.1701-1705

1993

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Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta

Gene therapy, 2003-11, Vol.10 (24), p.2005-2012

2003

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Distinct proliferative and differentiated stages of murine MC3T3‐E1 cells in culture: An in vitro model of osteoblast development

Journal of bone and mineral research, 1992-06, Vol.7 (6), p.683-692

1992

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A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

American journal of human genetics, 2007-11, Vol.81 (5), p.873-883

2007

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Effect of Enzyme Replacement Therapy With Imiglucerase on BMD in Type 1 Gaucher Disease

Journal of bone and mineral research, 2007-01, Vol.22 (1), p.119-126

2007

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Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta

American journal of human genetics, 1990-05, Vol.46 (5), p.975-982

1990

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Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects

International Journal of Immunogenetics, 2007-08, Vol.34 (4), p.231-233

2007

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Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency

The Journal of pediatrics, 1989-09, Vol.115 (3), p.405-409

1989

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Mutations of the alpha 2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I

Human molecular genetics, 1998-02, Vol.7 (2), p.249-255

1998

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Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases

Clinical genetics, 1998-06, Vol.53 (6), p.460-465

1998

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Gaucher disease: a prototype for molecular medicine

Critical reviews in oncology/hematology, 1996-05, Vol.23 (1), p.25-55

1996

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Isolation of a novel latent transforming growth factor-beta binding protein gene (LTBP-3)

The Journal of biological chemistry, 1995-04, Vol.270 (17), p.10147-10160

1995

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Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss

Journal of medical genetics, 2004-08, Vol.41 (8), p.615-620

2004

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A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

Development of a blood-based molecular biomarker test for identification of schizophrenia before disease onset

Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

Mesenchymal stem cells used for rabbit tendon repair can form ectopic bone and express alkaline phosphatase activity in constructs

Skeletal aspects of Gaucher disease: a review

Impact of homologous recombination deficiency biomarkers on outcomes in patients with triple-negative breast cancer treated with adjuvant doxorubicin and cyclophosphamide (SWOG S9313)

Response to Cragun et al

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Bone complications in children with Gaucher disease

Type V Collagen Controls the Initiation of Collagen Fibril Assembly

The Nf1 Tumor Suppressor Regulates Mouse Skin Wound Healing, Fibroblast Proliferation, and Collagen Deposited by Fibroblasts

COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta

Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta

Distinct proliferative and differentiated stages of murine MC3T3‐E1 cells in culture: An in vitro model of osteoblast development

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

Effect of Enzyme Replacement Therapy With Imiglucerase on BMD in Type 1 Gaucher Disease

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta

Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects

Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency

Mutations of the alpha 2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I

Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases

Gaucher disease: a prototype for molecular medicine

Isolation of a novel latent transforming growth factor-beta binding protein gene (LTBP-3)

Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss

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