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Deliberate paradigm shift in research in rare neurodevelopmental disorders

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.1-7, Article 263

2021

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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

American journal of human genetics, 2016-09, Vol.99 (3), p.728-734

2016

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Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options

Pediatric neurology, 2016-03, Vol.56, p.59-61

2016

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Rett-like Phenotypes in HNRNPH2 -Related Neurodevelopmental Disorder

Genes, 2023-05, Vol.14 (6), p.1154

2023

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A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

BMC neurology, 2021-09, Vol.21 (1), p.1-358, Article 358

2021

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Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

Journal of neurodevelopmental disorders, 2022-06, Vol.14 (1), p.1-40, Article 40

2022

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3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay

Genes, 2023-09, Vol.14 (9), p.1687

2023

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Inpatient Neurology Consultations During the Onset of the SARS-CoV-2 New York City Pandemic: A Single Center Case Series

Frontiers in neurology, 2020-07, Vol.11, p.805-805

2020

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TGFß1 Stimulates the Over-Production of White Matter Astrocytes from Precursors of the “Brain Marrow” in a Rodent Model of Neonatal Encephalopathy

PloS one, 2010-03, Vol.5 (3), p.e9567

2010

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Neurologic manifestations in an infant with COVID-19

Neurology, 2020-06, Vol.94 (24), p.1100-1102

2020

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Vascular Endothelial Growth Factors A and C are Induced in the SVZ Following Neonatal Hypoxia–Ischemia and Exert Different Effects on Neonatal Glial Progenitors

Translational stroke research, 2013-04, Vol.4 (2), p.158-170

2013

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Association of Birth During the COVID-19 Pandemic With Neurodevelopmental Status at 6 Months in Infants With and Without In Utero Exposure to Maternal SARS-CoV-2 Infection

JAMA pediatrics, 2022-06, Vol.176 (6), p.e215563

2022

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Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders

Molecular psychiatry, 2024-09

2024

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Encephalopathy and bilateral thalamic lesions in a child with MIS-C associated with COVID-19

Neurology, 2020-10, Vol.95 (16), p.745-748

2020

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Assessing the feasibility of using the ketogenic diet in autism spectrum disorder

Journal of human nutrition and dietetics, 2023-08, Vol.36 (4), p.1303-1315

2023

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PDGF-responsive progenitors persist in the subventricular zone across the lifespan

ASN neuro, 2014-02, Vol.6 (2), p.AN20120041

2014

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How has DSM-5 Affected Autism Diagnosis? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis

Journal of autism and developmental disorders, 2020-06, Vol.50 (6), p.2102-2127

2020

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Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder

Clinical genetics, 2024-05, Vol.105 (5), p.523-532

2024

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Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

Human molecular genetics, 2023-09, Vol.32 (19), p.2857-2871

2023

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Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder

Nature medicine, 2024-08

2024

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Genetic testing in individuals with cerebral palsy

Developmental medicine and child neurology, 2021-12, Vol.63 (12), p.1448-1455

2021

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Cerebral Palsy in Child Neurology and Neurodevelopmental Disabilities Training: An Unmet Need

Journal of child neurology, 2022-03, Vol.37 (3), p.194-201

2022

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Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers

Developmental medicine and child neurology, 2022-06, Vol.64 (6), p.723-733

2022

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Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder

Genetics in medicine, 2024-08, Vol.26 (8), p.101169, Article 101169

2024

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Pediatric Inflammatory and Autoimmune Neurologic Disorders at a Tertiary Medical Center

Journal of child neurology, 2020-12, Vol.35 (14), p.949-952

2020

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Deliberate paradigm shift in research in rare neurodevelopmental disorders

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options

Rett-like Phenotypes in HNRNPH2 -Related Neurodevelopmental Disorder

A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay

Inpatient Neurology Consultations During the Onset of the SARS-CoV-2 New York City Pandemic: A Single Center Case Series

TGFß1 Stimulates the Over-Production of White Matter Astrocytes from Precursors of the “Brain Marrow” in a Rodent Model of Neonatal Encephalopathy

Neurologic manifestations in an infant with COVID-19

Vascular Endothelial Growth Factors A and C are Induced in the SVZ Following Neonatal Hypoxia–Ischemia and Exert Different Effects on Neonatal Glial Progenitors

Association of Birth During the COVID-19 Pandemic With Neurodevelopmental Status at 6 Months in Infants With and Without In Utero Exposure to Maternal SARS-CoV-2 Infection

Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders

Encephalopathy and bilateral thalamic lesions in a child with MIS-C associated with COVID-19

Assessing the feasibility of using the ketogenic diet in autism spectrum disorder

PDGF-responsive progenitors persist in the subventricular zone across the lifespan

How has DSM-5 Affected Autism Diagnosis? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder

Genetic testing in individuals with cerebral palsy

Cerebral Palsy in Child Neurology and Neurodevelopmental Disabilities Training: An Unmet Need

Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder

Pediatric Inflammatory and Autoimmune Neurologic Disorders at a Tertiary Medical Center

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