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Bachmann–Bupp syndrome and treatment

Developmental medicine and child neurology, 2024-04, Vol.66 (4), p.445-455

2024

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Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report

BMC pediatrics, 2023-01, Vol.23 (1), p.1-4, Article 1

2023

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Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

eLife, 2021-07, Vol.10

2021

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CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications

Frontiers in immunology, 2021-12, Vol.12, p.790041-790041

2021

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Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics

Biomolecules (Basel, Switzerland), 2023-01, Vol.13 (2), p.257

2023

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Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development

Genes, 2021-03, Vol.12 (4), p.470

2021

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Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer

Children (Basel), 2023-01, Vol.10 (1), p.106

2023

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Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care

Biotech (Basel), 2024-01, Vol.13 (1), p.1

2024

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Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

Children (Basel), 2022-03, Vol.9 (3), p.357

2022

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Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders

Medical sciences (Basel), 2023-04, Vol.11 (2), p.29

2023

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The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing

Frontiers in cell and developmental biology, 2022-11, Vol.10, p.1033695

2022

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Access to clinical genetic services: An evaluation of patient referral characteristics and identifying barriers in Michigan

Journal of genetic counseling, 2024-07

2024

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Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation

Biochemical journal, 2019-07, Vol.476 (14), p.2047-2057

2019

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Improvement of dermatological symptoms in patients with Bachmann–Bupp syndrome using difluoromethylornithine treatment

Pediatric dermatology, 2023-05, Vol.40 (3), p.528-531

2023

Volltextzugriff (PDF)

Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2548-2553

2018

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SARS-CoV-2 infection: molecular mechanisms of severe outcomes to suggest therapeutics

Expert review of proteomics, 2021-02, Vol.18 (2), p.105-118

2021

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Balancing precision versus cohort transcriptomic analysis of acute and recovery phase of viral bronchiolitis

American journal of physiology. Lung cellular and molecular physiology, 2021-06, Vol.320 (6), p.L1147-L1157

2021

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Role of CAMK2D in neurodevelopment and associated conditions

American journal of human genetics, 2024-02, Vol.111 (2), p.364-382

2024

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Valve-Sparing Aortic Root Replacement in a Patient With an FLNA Variant

World journal for pediatric & congenital heart surgery, 2022-11, Vol.13 (6), p.805-807

2022

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Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3485-3493

2021

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N‐methyl‐d‐aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.556-568

2022

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Surveying the current landscape of clinical genetics residency training

Genetics in medicine, 2015-05, Vol.17 (5), p.386-390

2015

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De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

Human genetics, 2016-12, Vol.135 (12), p.1399-1409

2016

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When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2244-2250

2015

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Bachmann–Bupp syndrome and treatment

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report

High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals

Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications

Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics

Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer

Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care

Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders

The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing

Access to clinical genetic services: An evaluation of patient referral characteristics and identifying barriers in Michigan

Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation

Improvement of dermatological symptoms in patients with Bachmann–Bupp syndrome using difluoromethylornithine treatment

Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

SARS-CoV-2 infection: molecular mechanisms of severe outcomes to suggest therapeutics

Balancing precision versus cohort transcriptomic analysis of acute and recovery phase of viral bronchiolitis

Role of CAMK2D in neurodevelopment and associated conditions

Valve-Sparing Aortic Root Replacement in a Patient With an FLNA Variant

Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome

N‐methyl‐d‐aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants

Surveying the current landscape of clinical genetics residency training

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina

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