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Angelman syndrome: Current and emerging therapies in 2016

American journal of medical genetics. Part C, Seminars in medical genetics, 2016-12, Vol.172C (4), p.384-401

2016

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Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Molecular psychiatry, 2021-07, Vol.26 (7), p.3625-3633

2021

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Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Scientific reports, 2021-10, Vol.11 (1), p.19791-19791, Article 19791

2021

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Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.1050-1058

2023

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Prenatal imaging throughout gestation in Beckwith‐Wiedemann syndrome

Prenatal diagnosis, 2019-08, Vol.39 (9), p.792-795

2019

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PTEN hamartoma tumour syndrome: early tumour development in children

Archives of disease in childhood, 2015-01, Vol.100 (1), p.34-37

2015

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ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

Human mutation, 2020-05, Vol.41 (5), p.1042-1050

2020

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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

Prenatal diagnosis, 2024-02, Vol.44 (2), p.237-246

2024

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Maladaptive behaviors in individuals with Angelman syndrome

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.983-992

2019

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Infant mortality: the contribution of genetic disorders

Journal of perinatology, 2019-12, Vol.39 (12), p.1611-1619

2019

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If not Angelman, what is it? a review of Angelman-like syndromes

American journal of medical genetics. Part A, 2014-04, Vol.164A (4), p.975-992

2014

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Health-related quality of life and medication use among individuals with Angelman syndrome

Quality of life research, 2023-07, Vol.32 (7), p.2059-2067

2023

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Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.203-207

2021

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Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human mutation, 2021-06, Vol.42 (6), p.762-776

2021

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Cleft Lip and Palate in Ectodermal Dysplasia

The Cleft palate-craniofacial journal, 2021-02, Vol.58 (2), p.237-243

2021

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Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia

American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1890-1895

2020

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Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity

Biological psychiatry global open science, 2021-09, Vol.1 (3), p.201-209

2021

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Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1641-1647

2018

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Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1580-1586

2014

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Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.365-372

2019

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The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Journal of medical genetics, 2007-09, Vol.44 (9), p.594-602

2007

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An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

Orphanet journal of rare diseases, 2019-11, Vol.14 (1), p.239-239, Article 239

2019

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Treatment of genetic disorders-A vision coming into focus

American journal of medical genetics. Part C, Seminars in medical genetics, 2016-12, Vol.172C (4), p.311-312

2016

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Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00734-n/a

2019

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Anxiety in Angelman Syndrome

American journal on intellectual and developmental disabilities, 2022-01, Vol.127 (1), p.1-10

2022

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Angelman syndrome: Current and emerging therapies in 2016

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk

Prenatal imaging throughout gestation in Beckwith‐Wiedemann syndrome

PTEN hamartoma tumour syndrome: early tumour development in children

ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

Maladaptive behaviors in individuals with Angelman syndrome

Infant mortality: the contribution of genetic disorders

If not Angelman, what is it? a review of Angelman-like syndromes

Health-related quality of life and medication use among individuals with Angelman syndrome

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Cleft Lip and Palate in Ectodermal Dysplasia

Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia

Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype

Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

Treatment of genetic disorders-A vision coming into focus

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

Anxiety in Angelman Syndrome

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