P046: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics

P046: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics

Bibliographic Details
Main Authors:	Mayowa Osundiji, Jessie Cameron, Rory Olson, Bukola Olarewaju, Andreas Schulze
Format:	Article
Language:	English
Published:	Elsevier 2024-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774424000694

Similar Items

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics
by: Jessie M. Cameron, et al.
Published: (2024-01-01)

P106: Population based reporting of ACMG78 secondary findings using semi-automated variant interpretation software for variant prioritization and curation*
by: Jennifer Arroyo, et al.
Published: (2023-01-01)

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
by: Francesca Cristofoli, et al.
Published: (2023-08-01)

P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
by: Marina DiStefano, et al.
Published: (2023-01-01)

O11: Defining the pleiotropic GATA2 deficiency phenotype for the development of ACMG-AMP variant curation rules for GATA2*
by: Shruthi Mohan, et al.
Published: (2023-01-01)

P430: Application of ACMG/AMP variant classification guidelines to Alzheimer’s disease-associated genetic variation
by: Alexa Dickson, et al.
Published: (2023-01-01)

P055: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency presenting with involuntary choreiform movements and dystonia
by: Mayowa Osundiji, et al.
Published: (2024-01-01)

<i>SOD-1</i> Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines
by: Paola Ruffo, et al.
Published: (2022-03-01)

Expanding ACMG variant classification guidelines into a general framework
by: Emmanuelle Masson, et al.
Published: (2022-08-01)

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
by: Francesca Cristofoli, et al.
Published: (2021-11-01)

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
by: Kelly, M, et al.
Published: (2018)

Plasma arginine levels in arginase deficiency in the “real world”
by: Pranoot Tanpaiboon, et al.
Published: (2024-03-01)

Anesthetic Management of a Pediatric Patient with Arginase Deficiency
by: Abdulkadir Atım, et al.
Published: (2011-09-01)

Phenotypic pleiotropy in arginase deficiency: A single center cohort
by: Narmadham K Bharathi, et al.
Published: (2022-01-01)

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines
by: Serena Lattante, et al.
Published: (2020-09-01)

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss.
by: Damianos P Melidis, et al.
Published: (2022-09-01)

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency
by: Rosa Sonja Alesci, et al.
Published: (2023-07-01)

Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays
by: Laura Caleca, et al.
Published: (2023-04-01)

Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report
by: Noboru Kuyama, et al.
Published: (2023-06-01)

P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants
by: Timothy Tidwell, et al.
Published: (2024-01-01)

P645: Creation of a ClinGen standard operating procedure to guide gene- and disease-specific refinements of the ACMG/AMP criteria
by: Alicia Byrne, et al.
Published: (2023-01-01)

P393: Elevated prevalence of ACMG medically actionable variants in women with Mayer-Rokitansky-Küster-Hauser syndrome
by: John Theisen, et al.
Published: (2024-01-01)

O08: Long-term efficacy and safety of pegzilarginase for arginase 1 deficiency: 2 years of experience in the phase 2 extension study*
by: Markey McNutt, et al.
Published: (2023-01-01)

Measurement of the positive muon anomalous magnetic moment to 0.46 ppm
by: Abi, B, et al.
Published: (2021)

6.046J Introduction to Algorithms (SMA 5503), Fall 2004
by: Leiserson, Charles Eric, et al.
Published: (2004)

P625: Utility of highest pathogenic variant frequency approach for application of BA1/BS1 ACMG criteria to reduce variants of uncertain significance
by: Kyle Salsbery, et al.
Published: (2024-01-01)

P046: Preclinical evaluation of novel repurposed drug combinations in Hodgkin lymphoma
by: Mia Lohmann, et al.
Published: (2022-10-01)

6.046J / 18.410J Introduction to Algorithms, Fall 2001
by: Demaine, Erik D., et al.
Published: (2001)

Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin
by: Shelby L. Mills, et al.
Published: (2023-11-01)

Determination of Serum Arginase-1 Concentrations and Serum Arginase Activity for the Non-Invasive Diagnosis of Endometriosis
by: Maciej Pliszkiewicz, et al.
Published: (2024-03-01)

A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
by: Pleuntje J. van der Sluijs, et al.
Published: (2021-08-01)

P682: ACMG ACT Sheets and Algorithms: Update process, development, and utilization
by: Molly Caisse, et al.
Published: (2023-01-01)

P681: Carrier screening with the ACMG 113: An early look and new insights
by: Vivienne Souter, et al.
Published: (2024-01-01)

P-046: FACTORS ASSOCIATED WITH LEG ULCERS IN CAMEROONIAN SICKLE CELL DISEASE PATIENTS
by: EPOSSE C., et al.
Published: (2022-08-01)

P046 Whitlockite as a markerof benignityon breast microcalcifications detected by Raman Spectroscopy
by: V. Ceccarossi, et al.
Published: (2023-03-01)

Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
by: Monica Penon-Portmann, et al.
Published: (2023-01-01)

P757: Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening*
by: Dana Neitzel, et al.
Published: (2024-01-01)

P586: Additional diagnoses through next-generation sequencing in cases initially considered solved by cytogenetics analysis
by: Matheus Wilke, et al.
Published: (2023-01-01)

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
by: Lambert, J, et al.
Published: (2013)

LSO-046 Metabolomic analysis for the unique profile and novel biomarkers of neuropsychiatric systemic lupus erythematosus
by: Jing He, et al.
Published: (2023-07-01)