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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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A novel 3q interstitial deletion including GATA2 and ZNF148: A case report

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63621-n/a

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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Expansion of the phenotypic spectrum of KARS1 ‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation

American journal of medical genetics. Part A, 2024-07, p.e63811

2024

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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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Review of a rare maternally-derived unbalanced translocation involving deletion of chromosome 10q26.3 and duplication of chromosome 15q22.2→15q26.3 in a 32-year-old male patient: A case report

Rare, 2024, Vol.2, p.100041, Article 100041

2024

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P330: A novel WARS2 variant impacting dimerization in trans with a recurrent pathogenic variant in a child with features of NEMMLAS

Genetics in Medicine Open, 2024, Vol.2, p.101224, Article 101224

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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BKM120 induces apoptosis and inhibits tumor growth in medulloblastoma

PloS one, 2017-06, Vol.12 (6), p.e0179948-e0179948

2017

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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in medicine, 2022-10, Vol.24 (10), p.2065-2078

2022

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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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NAA10 variant in 38-week-gestation male patient: a case study

Cold Spring Harbor molecular case studies, 2020-12, Vol.6 (6), p.a005868

2020

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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding

Cold Spring Harbor molecular case studies, 2022-10, Vol.8 (6), p.1

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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eP193: Co-occurring TCF12 and mosaic NALCN likely pathogenic variants: Case report of novel skeletal findings without craniosynostosis, neurologic dysfunction, and apnea

Genetics in medicine, 2022-03, Vol.24 (3), p.S119-S120

2022

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Different newborn screening results in siblings with HSD17B4-related peroxisomal disorder

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108340, Article 108340

2024

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Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States

The Journal of pediatrics, 2021-12, Vol.239, p.235-239

2021

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Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-offunction variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum

Cold Spring Harbor molecular case studies, 2023-02, Vol.9 (1), p.1

2023

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MEDU-14. GENOMIC ANALYSIS OF ETMR GUIDES EFFICACIOUS DFMO DRUG COMBINATIONS

Neuro-oncology (Charlottesville, Va.), 2019-04, Vol.21 (Supplement_2), p.ii106-ii106

2019

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DIPG-29. DFMO AND PANOBINOSTAT TARGET LIN28 AND HDAC IN DIPG DECREASING CELL VIABILITY

Neuro-oncology (Charlottesville, Va.), 2019-04, Vol.21 (Supplement_2), p.ii75-ii75

2019

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Abstract 3191: The MDM2 inhibitor CGM097 synergizes with the BET inhibitor OTX015 to induce cell death in neuroblastoma cells

Cancer research (Chicago, Ill.), 2018-07, Vol.78 (13_Supplement), p.3191-3191

2018

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Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1 -further expansion of the phenotypic spectrum

Cold Spring Harbor molecular case studies, 2023-02, Vol.9 (1), p.a006260

2023

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ETMR-18. TARGETING Lin28 IN ETMR WITH ODC1 INHIBITOR DFMO

Neuro-oncology (Charlottesville, Va.), 2020-12, Vol.22 (Supplement_3), p.iii326-iii326

2020

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Bachmann–Bupp syndrome and treatment

A novel 3q interstitial deletion including GATA2 and ZNF148: A case report

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

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

Expansion of the phenotypic spectrum of KARS1 ‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation

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

Review of a rare maternally-derived unbalanced translocation involving deletion of chromosome 10q26.3 and duplication of chromosome 15q22.2→15q26.3 in a 32-year-old male patient: A case report

P330: A novel WARS2 variant impacting dimerization in trans with a recurrent pathogenic variant in a child with features of NEMMLAS

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

BKM120 induces apoptosis and inhibits tumor growth in medulloblastoma

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

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

Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development

NAA10 variant in 38-week-gestation male patient: a case study

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding

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

eP193: Co-occurring TCF12 and mosaic NALCN likely pathogenic variants: Case report of novel skeletal findings without craniosynostosis, neurologic dysfunction, and apnea

Different newborn screening results in siblings with HSD17B4-related peroxisomal disorder

Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States

Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-offunction variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum

MEDU-14. GENOMIC ANALYSIS OF ETMR GUIDES EFFICACIOUS DFMO DRUG COMBINATIONS

DIPG-29. DFMO AND PANOBINOSTAT TARGET LIN28 AND HDAC IN DIPG DECREASING CELL VIABILITY

Abstract 3191: The MDM2 inhibitor CGM097 synergizes with the BET inhibitor OTX015 to induce cell death in neuroblastoma cells

Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1 -further expansion of the phenotypic spectrum

ETMR-18. TARGETING Lin28 IN ETMR WITH ODC1 INHIBITOR DFMO

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