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Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

Human mutation, 2021-06, Vol.42 (6), p.685-693

2021

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Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Journal of neurodevelopmental disorders, 2017-05, Vol.9 (1), p.17-17, Article 17

2017

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A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.415-420

2018

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Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study

Molecular autism, 2018-04, Vol.9 (1), p.32-32, Article 32

2018

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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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Developmental milestones and daily living skills in individuals with Angelman syndrome

Journal of neurodevelopmental disorders, 2024-06, Vol.16 (1), p.32-15

2024

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Rare SUZ12 variants commonly cause an overgrowth phenotype

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.532-547

2019

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Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

American journal of medical genetics. Part A, 2020-09, Vol.182 (9), p.2021-2026

2020

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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.271-281

2015

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Delta power robustly predicts cognitive function in Angelman syndrome

Annals of clinical and translational neurology, 2021-07, Vol.8 (7), p.1433-1445

2021

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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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Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

Communications biology, 2022-12, Vol.5 (1), p.1374-1374, Article 1374

2022

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A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

Orphanet journal of rare diseases, 2019-10, Vol.14 (1), p.232-232, Article 232

2019

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Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

Journal of neurodevelopmental disorders, 2023-07, Vol.15 (1), p.22-22, Article 22

2023

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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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Angelman syndrome: review of clinical and molecular aspects

Application of clinical genetics, 2014-01, Vol.7 (default), p.93-104

Bird, Lynne M

2014

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Angelman syndrome: Mutations influence features in early childhood

American journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.81-90

2011

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Concurrent rhabdomyosarcoma and neuroblastoma in an infant with Costello syndrome

Pediatric blood & cancer, 2024-08, Vol.71 (8), p.e31084-n/a

2024

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Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

Communications biology, 2023-01, Vol.6 (1), p.41-41, Article 41

2023

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Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

Communications biology, 2023-01, Vol.6 (1), p.24-24, Article 24

2023

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Angelman Syndrome

Neurotherapeutics, 2015-07, Vol.12 (3), p.641-650

2015

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Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Molecular genetics & genomic medicine, 2021-07, Vol.9 (7), p.e1623-n/a

2021

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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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Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1351-1363

2020

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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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Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study

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

Developmental milestones and daily living skills in individuals with Angelman syndrome

Rare SUZ12 variants commonly cause an overgrowth phenotype

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Delta power robustly predicts cognitive function in Angelman syndrome

Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity

Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

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

Angelman syndrome: review of clinical and molecular aspects

Angelman syndrome: Mutations influence features in early childhood

Concurrent rhabdomyosarcoma and neuroblastoma in an infant with Costello syndrome

Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

Angelman Syndrome

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Angelman syndrome: Current and emerging therapies in 2016

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study

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

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