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Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

Frontiers in genetics, 2015-01, Vol.6, p.1-1

2015

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BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

American journal of human genetics, 2013-09, Vol.93 (3), p.530-537

2013

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Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment

International journal of molecular sciences, 2021-08, Vol.22 (16), p.9037

2021

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Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2584-2589

2022

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Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort

Otolaryngology-head and neck surgery, 2023-06, Vol.168 (6), p.1472-1476

2023

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Contributing factors of mortality in Prader–Willi syndrome

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.196-205

2019

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Costello syndrome: Clinical phenotype, genotype, and management guidelines

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1725-1744

2019

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Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1521-1536

2018

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RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1450-1454

2016

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Genetic Variants Associated with Port-Wine Stains

PloS one, 2015-07, Vol.10 (7), p.e0133158-e0133158

2015

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Osteogenesis imperfecta type XVII: expansion of the phenotype

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.7, Article 7

2024

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Genetics in medicine, 2016-04, Vol.18 (4), p.309-315

2016

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Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice

Human molecular genetics, 2013-12, Vol.22 (23), p.4818-4828

2013

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Bone health in RASopathies

American journal of medical genetics. Part C, Seminars in medical genetics, 2022-12, Vol.190 (4), p.459-470

2022

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The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients

Cancer research (Chicago, Ill.), 2015-01, Vol.75 (1), p.16-21

2015

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Dystrophic spinal deformities in a neurofibromatosis type 1 murine model

PloS one, 2015-03, Vol.10 (3), p.e0119093-e0119093

2015

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Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2018-07, Vol.20 (7), p.671-682

2018

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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

PLoS genetics, 2016-05, Vol.12 (5), p.e1006039-e1006039

2016

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Double Inactivation of NF1 in Tibial Pseudarthrosis

American journal of human genetics, 2006-07, Vol.79 (1), p.143-148

2006

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Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1

PloS one, 2014-01, Vol.9 (1), p.e86115-e86115

2014

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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Nature communications, 2015-09, Vol.6 (1), p.8329-8329, Article 8329

2015

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Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype

Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1542-n/a

2021

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Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2327-2338

2009

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Bone Mineral Density in Children and Adolescents with Neurofibromatosis Type 1

The Journal of pediatrics, 2007, Vol.150 (1), p.83-88

2007

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Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis

Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort

Contributing factors of mortality in Prader–Willi syndrome

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Genetic Variants Associated with Port-Wine Stains

Osteogenesis imperfecta type XVII: expansion of the phenotype

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice

Bone health in RASopathies

The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients

Dystrophic spinal deformities in a neurofibromatosis type 1 murine model

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

Double Inactivation of NF1 in Tibial Pseudarthrosis

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

Bone Mineral Density in Children and Adolescents with Neurofibromatosis Type 1

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