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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Proceedings of the National Academy of Sciences - PNAS, 2013-12, Vol.110 (50), p.20152-20157

2013

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Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome

Proceedings of the National Academy of Sciences - PNAS, 2011-03, Vol.108 (12), p.5015-5020

2011

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Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1102-1110

2012

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Molecular genetics and metabolism, 2013-07, Vol.109 (3), p.289-295

2013

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Perceived fatigue in children and young adults with neurofibromatosis type 1

Journal of paediatrics and child health, 2020-06, Vol.56 (6), p.878-883

2020

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Brittle cornea syndrome: recognition, molecular diagnosis and management

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.68-68, Article 68

2013

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The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

Clinical otolaryngology, 2021-11, Vol.46 (6), p.1257-1262

2021

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Pierpont syndrome: A collaborative study

American journal of medical genetics. Part A, 2011-09, Vol.155 (9), p.2203-2211

2011

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

American journal of human genetics, 2011-06, Vol.88 (6), p.767-777

2011

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Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1

Journal of clinical neuroscience, 2020-07, Vol.77, p.98-105

2020

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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

Journal of medical genetics, 2013-09, Vol.50 (9), p.606-613

2013

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RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature

Archives of Disease in Childhood, 2010-09, Vol.95 (9), p.724-730

2010

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VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype

British journal of ophthalmology, 2010-03, Vol.94 (3), p.386-388

2010

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

American journal of human genetics, 2018-01, Vol.102 (1), p.69-87

2018

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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Human molecular genetics, 2014-08, Vol.23 (16), p.4315-4327

2014

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X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

Clinical dysmorphology, 2009-10, Vol.18 (4), p.218

2009

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

American journal of human genetics, 2011-08, Vol.89 (2), p.346-346

2011

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VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype

The British journal of ophthalmology, 2010, Vol.94 (3), p.386-388

2010

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Clinical genetics, 2019-06, Vol.95 (6), p.693-703

2019

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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63477-n/a

2024

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The sixth international RASopathies symposium: Precision medicine—From promise to practice

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.597-606

2020

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Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists

European journal of medical genetics, 2022-01, Vol.65 (1), p.104372-104372, Article 104372

2022

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Nature communications, 2023-02, Vol.14 (1), p.853-11, Article 853

2023

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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

EBioMedicine, 2016-05, Vol.7 (C), p.212-220

2016

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Perceived fatigue in children and young adults with neurofibromatosis type 1

Brittle cornea syndrome: recognition, molecular diagnosis and management

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

Pierpont syndrome: A collaborative study

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

The sixth international RASopathies symposium: Precision medicine—From promise to practice

Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

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