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EED-associated overgrowth in a second male patient

Journal of human genetics, 2016-09, Vol.61 (9), p.831-834

2016

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Behavioral Responses to a Repetitive Visual Threat Stimulus Express a Persistent State of Defensive Arousal in Drosophila

Current biology, 2015-06, Vol.25 (11), p.1401-1415

2015

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Control of the Mitotic Cleavage Plane by Local Epithelial Topology

Cell, 2011-02, Vol.144 (3), p.427-438

2011

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Mutations in EZH2 Cause Weaver Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.110-118

2012

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A novel mutation in EED associated with overgrowth

Journal of human genetics, 2015-06, Vol.60 (6), p.339-342

2015

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Rare diseases of epigenetic origin: Challenges and opportunities

Frontiers in genetics, 2023-02, Vol.14, p.1113086-1113086

2023

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Benchmarking brain organoid recapitulation of fetal corticogenesis

Translational psychiatry, 2022-12, Vol.12 (1), p.520-520, Article 520

2022

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Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice

PloS one, 2015-05, Vol.10 (5), p.e0125225-e0125225

2015

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A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

Journal of human genetics, 2019-04, Vol.64 (4), p.271-280

2019

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A maternal high-fat, high-sucrose diet has sex-specific effects on fetal glucocorticoids with little consequence for offspring metabolism and voluntary locomotor activity in mice

PloS one, 2017-03, Vol.12 (3), p.e0174030-e0174030

2017

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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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ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.124-124, Article 124

2018

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Modeling and inferring cleavage patterns in proliferating epithelia

PLoS computational biology, 2009-06, Vol.5 (6), p.e1000412-e1000412

2009

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A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

Molecular syndromology, 2018-02, Vol.9 (2), p.70-82

2018

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Loss of maternal EED results in postnatal overgrowth

Clinical epigenetics, 2018-07, Vol.10 (1), p.95-95, Article 95

2018

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Neuronal PAS Domain Protein 4 Suppression of Oxygen Sensing Optimizes Metabolism during Excitation of Neuroendocrine Cells

Cell reports (Cambridge), 2018-01, Vol.22 (1), p.163-174

2018

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Acute Disruption of Leptin Signaling in Vivo Leads to Increased Insulin Levels and Insulin Resistance

Endocrinology (Philadelphia), 2011-09, Vol.152 (9), p.3385-3395

2011

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Searching for Monogenic Diabetes in a High-risk Autoimmune Diabetes Cohort: Needles in a Paperclip Stack

The journal of clinical endocrinology and metabolism, 2021-08, Vol.106 (8), p.e3266-e3268

2021

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Maintenance of thermogenic adipose tissues despite loss of the H3K27 acetyltransferases p300 or CBP

American journal of physiology: endocrinology and metabolism, 2024-10, Vol.327 (4), p.E459-E468

2024

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Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome

Journal of genetic counseling, 2016-02, Vol.25 (1), p.25-31

2016

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Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

Pediatric rheumatology online journal, 2019-10, Vol.17 (1), p.70-70, Article 70

2019

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PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.519-531

2019

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A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

Journal of Genetic Counseling, 2017-02, Vol.26 (1), p.21-31

2017

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Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Journal of medical genetics, 2018-04, Vol.55 (4), p.215-221

2018

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EED-associated overgrowth in a second male patient

Behavioral Responses to a Repetitive Visual Threat Stimulus Express a Persistent State of Defensive Arousal in Drosophila

Control of the Mitotic Cleavage Plane by Local Epithelial Topology

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

Mutations in EZH2 Cause Weaver Syndrome

A novel mutation in EED associated with overgrowth

Rare diseases of epigenetic origin: Challenges and opportunities

Benchmarking brain organoid recapitulation of fetal corticogenesis

Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

A maternal high-fat, high-sucrose diet has sex-specific effects on fetal glucocorticoids with little consequence for offspring metabolism and voluntary locomotor activity in mice

Rare SUZ12 variants commonly cause an overgrowth phenotype

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

Modeling and inferring cleavage patterns in proliferating epithelia

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

Loss of maternal EED results in postnatal overgrowth

Neuronal PAS Domain Protein 4 Suppression of Oxygen Sensing Optimizes Metabolism during Excitation of Neuroendocrine Cells

Acute Disruption of Leptin Signaling in Vivo Leads to Increased Insulin Levels and Insulin Resistance

Searching for Monogenic Diabetes in a High-risk Autoimmune Diabetes Cohort: Needles in a Paperclip Stack

Maintenance of thermogenic adipose tissues despite loss of the H3K27 acetyltransferases p300 or CBP

Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

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