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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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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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SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics

The Journal of biological chemistry, 2020-08, Vol.295 (33), p.11742-11753

2020

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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

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Genome sequencing in the clinic: the past, present, and future of genomic medicine

Physiological genomics, 2018-08, Vol.50 (8), p.563-579

2018

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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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Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B

The journal of clinical endocrinology and metabolism, 2020-09, Vol.105 (9), p.e3197-e3206

2020

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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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P265: Two new cases of 9q21.13 microdeletion syndrome and review of the literature

Genetics in Medicine Open, 2023, Vol.1 (1), p.100293, Article 100293

2023

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Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-03, Vol.22 (3), p.462-474

2020

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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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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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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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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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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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Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis

Human genetics, 2021-03, Vol.140 (3), p.423-439

2021

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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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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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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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Bachmann–Bupp syndrome and treatment

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

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

SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics

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

Genome sequencing in the clinic: the past, present, and future of genomic medicine

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

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

Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B

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

P265: Two new cases of 9q21.13 microdeletion syndrome and review of the literature

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

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

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

Role of CAMK2D in neurodevelopment and associated conditions

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

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

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

Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis

Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development

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

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

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