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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

PLoS genetics, 2015-11, Vol.11 (11), p.e1005637-e1005637

2015

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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Genetics in medicine, 2019-11, Vol.21 (11), p.2413-2421

2019

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A framework for an evidence-based gene list relevant to autism spectrum disorder

Nature reviews. Genetics, 2020-06, Vol.21 (6), p.367-376

2020

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Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

The New England journal of medicine, 2019-10, Vol.381 (17), p.1644-1652

2019

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A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

Human molecular genetics, 2022-10, Vol.31 (20), p.3393-3404

2022

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Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Genetics in medicine, 2019-11, Vol.21 (11), p.2639-2643

2019

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Clinical and genetic characterization of AP4B1‐associated SPG47

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.311-318

2018

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GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.32-46

2022

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Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

Journal of neurodevelopmental disorders, 2022-03, Vol.14 (1), p.24-24, Article 24

2022

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Emerging roles and opportunities for rare disease patient advocacy groups

Therapeutic advances in rare disease, 2023-01, Vol.4, p.26330040231164425

2023

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Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Genetics in medicine, 2021-10, Vol.23 (10), p.2022-2022

2021

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Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers

Pediatric dermatology, 2016-09, Vol.33 (5), p.518-525

2016

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A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations

Contemporary clinical trials communications, 2021-03, Vol.21, p.100733-100733, Article 100733

2021

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Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Genetics in medicine, 2020-10, Vol.22 (10), p.1731-1732

2020

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Toward representative genomic research: the children’s rare disease cohorts experience

Therapeutic advances in rare disease, 2023-01, Vol.4, p.26330040231181406-26330040231181406

2023

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A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex

Pediatric neurology, 2013-02, Vol.48 (2), p.105-110

2013

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Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes

Handbook of clinical neurology, 2015, Vol.132, p.3-8

2015

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Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

HGG advances, 2023-01, Vol.4 (1), p.100145-100145, Article 100145

2023

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Schizencephaly: Association With Young Maternal Age, Alcohol Use, and Lack of Prenatal Care

Journal of child neurology, 2013-02, Vol.28 (2), p.198-203

2013

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The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

Brain & development (Tokyo. 1979), 2010-08, Vol.32 (7), p.550-555

2010

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eP516 - Patterns of healthcare utilization in a pediatric genetic cohort

Molecular genetics and metabolism, 2021-04, Vol.132, p.S333-S334

2021

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Patterns of healthcare utilization in a pediatric genetic cohort

Molecular genetics and metabolism, 2021-04, Vol.132, p.S333-S334

2021

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Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Translational psychiatry, 2019-10, Vol.9 (1), p.253-9, Article 253

2019

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Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant

Journal of child neurology, 2017-08, Vol.32 (9), p.840-845

2017

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

A framework for an evidence-based gene list relevant to autism spectrum disorder

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Clinical and genetic characterization of AP4B1‐associated SPG47

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

Emerging roles and opportunities for rare disease patient advocacy groups

Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers

A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Toward representative genomic research: the children’s rare disease cohorts experience

A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex

Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Schizencephaly: Association With Young Maternal Age, Alcohol Use, and Lack of Prenatal Care

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

eP516 - Patterns of healthcare utilization in a pediatric genetic cohort

Patterns of healthcare utilization in a pediatric genetic cohort

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex

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