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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

Nature genetics, 2019-01, Vol.51 (1), p.106-116

2019

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CPT2 Deficiency Modeled in Zebrafish: Abnormal Neural Development, Electrical Activity, Behavior, and Schizophrenia-Related Gene Expression

Biomolecules (Basel, Switzerland), 2024-07, Vol.14 (8), p.914

2024

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Molecular subtyping and improved treatment of neurodevelopmental disease

Genome medicine, 2016-02, Vol.8 (1), p.22-22, Article 22

2016

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Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease

Biology (Basel, Switzerland), 2019-03, Vol.8 (1), p.11

2019

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KMT5B is required for early motor development

Frontiers in genetics, 2022-08, Vol.13, p.901228-901228

2022

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The evolution and population diversity of human-specific segmental duplications

Nature ecology & evolution, 2017-02, Vol.1 (3), Article 0069

2017

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Epidemiologic and Genomic Analysis of the Severe Acute Respiratory Syndrome Coronavirus 2 Epidemic in the Nebraska Region of the United States, March 2020-2021

Frontiers in microbiology, 2022-05, Vol.13, p.878342-878342

2022

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De novo genic mutations among a Chinese autism spectrum disorder cohort

Nature communications, 2016-11, Vol.7 (1), p.13316-13316, Article 13316

2016

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Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism

Autism Research and Treatment, 2017-01, Vol.2017 (2017), p.1-9-008

2017

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Bortezomib resistance can be reversed by induced expression of plasma cell maturation markers in a mouse in vitro model of multiple myeloma

PloS one, 2013, Vol.8 (10), p.e77608-e77608

2013

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Nature genetics, 2017-04, Vol.49 (4), p.515-526

2017

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Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

Journal of neurodevelopmental disorders, 2017-05, Vol.9 (1), p.24-24, Article 24

2017

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Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report

Reports (MDPI), 2020-12, Vol.3 (4), p.31

2020

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GluN2D Subunit in Parvalbumin Interneurons Regulates Prefrontal Cortex Feedforward Inhibitory Circuit and Molecular Networks Relevant to Schizophrenia

Biological psychiatry (1969), 2023-08, Vol.94 (4), p.297-309

2023

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ATF3 Coordinates Antitumor Synergy between Epigenetic Drugs and Protein Disulfide Isomerase Inhibitors

Cancer research (Chicago, Ill.), 2020-08, Vol.80 (16), p.3279-3291

2020

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Human placental lactogen (human chorionic somatomammotropin) and oxytocin during pregnancy: Individual patterns and associations with maternal-fetal attachment, anxiety, and depression

Hormones and behavior, 2024-07, Vol.163, p.105560, Article 105560

2024

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

American journal of human genetics, 2017-02, Vol.100 (2), p.352-363

2017

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Differential effects by sex with Kmt5b loss

Autism research, 2021-08, Vol.14 (8), p.1554-1571

2021

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Profiling bortezomib resistance identifies secondary therapies in a mouse myeloma model

Molecular cancer therapeutics, 2013-06, Vol.12 (6), p.1140-1150

2013

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Complete sequence of the closed circular extrachromosomal element of Naegleria pringsheimi De Jonckheere (strain Singh)

Microbiology resource announcements, 2024-04, Vol.13 (4), p.e0080623-e0080623

2024

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Complete sequence of the closed circular extrachromosomal element (CERE) of Naegleria australiensis De Jonckheere (strain PP 397)

Microbiology resource announcements, 2023-10, Vol.12 (10), p.e0032123-e0032123

2023

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Complete Sequence of the Closed Circular Extrachromosomal Element of Naegleria jadini Willaert and Ray (Strain ITMAP400)

Microbiology resource announcements, 2023-04, Vol.12 (4), p.e0006123-e0006123

2023

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In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk

HGG advances, 2024-07, Vol.5 (3), p.100298, Article 100298

2024

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Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies

HGG advances, 2024-07, Vol.5 (3), p.100306, Article 100306

2024

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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

CPT2 Deficiency Modeled in Zebrafish: Abnormal Neural Development, Electrical Activity, Behavior, and Schizophrenia-Related Gene Expression

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Molecular subtyping and improved treatment of neurodevelopmental disease

Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease

KMT5B is required for early motor development

The evolution and population diversity of human-specific segmental duplications

Epidemiologic and Genomic Analysis of the Severe Acute Respiratory Syndrome Coronavirus 2 Epidemic in the Nebraska Region of the United States, March 2020-2021

De novo genic mutations among a Chinese autism spectrum disorder cohort

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism

Bortezomib resistance can be reversed by induced expression of plasma cell maturation markers in a mouse in vitro model of multiple myeloma

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report

GluN2D Subunit in Parvalbumin Interneurons Regulates Prefrontal Cortex Feedforward Inhibitory Circuit and Molecular Networks Relevant to Schizophrenia

ATF3 Coordinates Antitumor Synergy between Epigenetic Drugs and Protein Disulfide Isomerase Inhibitors

Human placental lactogen (human chorionic somatomammotropin) and oxytocin during pregnancy: Individual patterns and associations with maternal-fetal attachment, anxiety, and depression

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Differential effects by sex with Kmt5b loss

Profiling bortezomib resistance identifies secondary therapies in a mouse myeloma model

Complete sequence of the closed circular extrachromosomal element of Naegleria pringsheimi De Jonckheere (strain Singh)

Complete sequence of the closed circular extrachromosomal element (CERE) of Naegleria australiensis De Jonckheere (strain PP 397)

Complete Sequence of the Closed Circular Extrachromosomal Element of Naegleria jadini Willaert and Ray (Strain ITMAP400)

In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies

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