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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

Molecular psychiatry, 2013-02, Vol.18 (2), p.141-153

2013

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Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

Journal of medical genetics, 2010-09, Vol.47 (9), p.623-630

2010

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Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition

Clinical genetics, 2013-01, Vol.83 (1), p.2-6

2013

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Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

Journal of medical genetics, 2008-10, Vol.45 (10), p.622-631

2008

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Human Gene Mutation Database: towards a comprehensive central mutation database

Journal of medical genetics, 2008-02, Vol.45 (2), p.124-126

2008

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Revealing the human mutome

Clinical genetics, 2010-10, Vol.78 (4), p.310-320

2010

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Journal of medical genetics, 2006-05, Vol.43 (5), p.451-456

2006

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Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes

American journal of human genetics, 1998-08, Vol.63 (2), p.474-488

1998

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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients : correlation of disease severity with mutation type and location

Human molecular genetics, 2000-04, Vol.9 (7), p.1119-1129

2000

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The human gene mutation database

Trends in genetics, 1997-03, Vol.13 (3), p.121-122

1997

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Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis

Thrombosis and haemostasis, 1997-01, Vol.77 (1), p.197-211

1997

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Assessing Radiation-Associated Mutational Risk to the Germline: Repetitive DNA Sequences as Mutational Targets and Biomarkers

Radiation research, 2006-03, Vol.165 (3), p.249-268

2006

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D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection

Neurology, 2003-07, Vol.61 (2), p.178-183

2003

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Human gene mutation in pathology and evolution

Journal of inherited metabolic disease, 2002-05, Vol.25 (3), p.157-182

Cooper, D. N.

2002

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Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

Journal of medical genetics, 2003-10, Vol.40 (10), p.e109-109

2003

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Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

Human molecular genetics, 2014-06, Vol.23 (11), p.3024-3034

2014

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Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

Human genetics, 1998-05, Vol.102 (5), p.591-597

1998

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A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

Human genetics, 2005-09, Vol.117 (5), p.411-427

2005

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Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex

British journal of dermatology (1951), 2006-07, Vol.155 (1), p.201-203

2006

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Evidence for Export of a Muscle Lectin from Cytosol to Extracellular Matrix and for a Novel Secretory Mechanism

The Journal of cell biology, 1990-05, Vol.110 (5), p.1681-1691

1990

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The molecular genetics of growth hormone deficiency

Human genetics, 1998-09, Vol.103 (3), p.255-272

1998

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Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene

Human genetics, 2001-11, Vol.109 (5), p.487-497

2001

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Molecular analysis of the genotype-phenotype relationship in factor VII deficiency

Human genetics, 2000-10, Vol.107 (4), p.327-342

2000

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God must love galectins; He made so many of them

Glycobiology (Oxford), 1999-10, Vol.9 (10), p.979-984

1999

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Expression of the 67-kD laminin receptor, galectin-1, and galectin-3 in advanced human uterine adenocarcinoma

Human pathology, 1996-11, Vol.27 (11), p.1185-1191

1996

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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

Human Gene Mutation Database: towards a comprehensive central mutation database

Revealing the human mutome

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients : correlation of disease severity with mutation type and location

The human gene mutation database

Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis

Assessing Radiation-Associated Mutational Risk to the Germline: Repetitive DNA Sequences as Mutational Targets and Biomarkers

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection

Human gene mutation in pathology and evolution

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex

Evidence for Export of a Muscle Lectin from Cytosol to Extracellular Matrix and for a Novel Secretory Mechanism

The molecular genetics of growth hormone deficiency

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency

God must love galectins; He made so many of them

Expression of the 67-kD laminin receptor, galectin-1, and galectin-3 in advanced human uterine adenocarcinoma

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