Grant Details
| Grant Number: | 2U24HG009649-10 Interpret this number |
| Primary Investigator: | Plon, Sharon |
| Organization: | Baylor College Of Medicine |
| Project Title: | Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN) |
| Fiscal Year: | 2026 |
Abstract
The Clinical Genome Resource (ClinGen), initiated in 2013, is an essential community resource generating expert curated clinically relevant genomic knowledge for use in precision medicine. This U24 application is one of three proposals from core ClinGen research teams to PAR-23-085, joined by the new ClinPGx U24 affiliate grant application and existing somatic cancer knowledgebase team. ClinGen designs and implements structured frameworks for curation of gene, dosage, variant and actionability data relevant to human disease and somatic cancer. Special focus of the BCM/Stanford core grant is development of web-based software infrastructure to support ClinGen’s multiple curation modalities. ClinGen's successful and innovative strategy for training, framework and oversight now includes over 120 expert panels (over 2800 members). Combined with the pivotal and dynamic user-informed tools, including ClinGen curation platforms, Allele Registry/Linked Data Hub and ClinGen Knowledgebase website, the resultant rigor and public availability of ClinGen curated knowledge have led to widespread adoption for clinical use. In this application, we seek continued support of these critical resources and propose innovative solutions to further accelerate production of curated knowledge while anticipating new facets of genomic medicine and artificial intelligence (AI). Major updates to the variant curation platform will support implementation of a new national variant classification guideline created by ClinGen and multiple professional organizations, which emphasizes quantitative approaches to improve consistency, efficiency and quality of genetic test reports. We will continue to support the large, highly productive hereditary cancer clinical domain, curation of chronic diseases via our new human leukocyte antigen (HLA) framework related to rheumatologic and autoimmune disorders, and somatic cancer variant interpretation. ClinGen’s work is accessible via the website and widely used application programming interfaces (APIs), which will be further optimized to support large-scale users and AI programs. Our project is designed to support the ClinGen resource on our mission to define the clinical relevance of genes and variants, advance precision medicine and improve health outcomes.
Publications
Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.
Authors: Lulla S.D. , Ritter D.I. , Kesserwan C. , Plon S.E. .
Source: American Journal Of Human Genetics, 2026-08-25 00:00:00.0; , .
EPub date: 2026-08-25 00:00:00.0.
PMID: 42641600
Related Citations
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.
Authors: Lacaria M. , Goldstein J.L. , Aschoff C. , Brown K. , Deshpande D. , Chen-Deutsch X. , Ellinwood M. , Farman M.R. , Mendez R. , Louis I.V. , et al. .
Source: Molecular Genetics And Metabolism, 2026 Jul; 148(3), p. 110156.
EPub date: 2026-05-20 00:00:00.0.
PMID: 42190545
Related Citations
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Authors: Johnston J.J. , Lee K. , Ritter D.I. , Harrison S.M. , Biesecker L.G. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2026 May; 28(5), p. 102552.
EPub date: 2026-03-14 00:00:00.0.
PMID: 41842695
Related Citations
ClinGen variant curation interface workshops: Training variant scientists on an international platform.
Authors: Ritter D.I. , Mandell M. , Preston C. , DiStefano M. , Bryant S.M. , Carstens N. , Julius R.S. , Lumaka A. , Hegde M. , Ngeow J. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2026-05-01 00:00:00.0; 28(8), p. 102590.
EPub date: 2026-05-01 00:00:00.0.
PMID: 42070089
Related Citations
Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.
Authors: Ritter D.I. , Badduke C. , Doonanco K. , Kang H.C. , Pesaran T. , Ridd S. , Sheen C. , Farncombe K.M. , Giles R.H. , Luo M. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2026-05-01 00:00:00.0; 28(8), p. 102589.
EPub date: 2026-05-01 00:00:00.0.
PMID: 42070091
Related Citations
Updates to gene-disease classifications and inheritance patterns for porphyrias.
Authors: Reeves E.B. , Hankey W. , Clair P.S. , Goldstein J.L. , Wilke M.V.M.B. , Feigenbaum A. , Hung C. , Spector E. , Craigen W.J. .
Source: Molecular Genetics And Metabolism, 2026-04-30 00:00:00.0; 148(3), p. 110136.
EPub date: 2026-04-30 00:00:00.0.
PMID: 42107342
Related Citations
Calibration of in-frame indel variant effect predictors for clinical variant classification.
Authors: Abderrazzaq H. , Singh M. , Babb L. , Bergquist T. , Brenner S.E. , Pejaver V. , O'Donnell-Luria A. , Radivojac P. , ClinGen Computational Working Group and ClinGen Variant Classification Working Group .
Source: Biorxiv : The Preprint Server For Biology, 2026-04-18 00:00:00.0; , .
EPub date: 2026-04-18 00:00:00.0.
PMID: 42039470
Related Citations
ClinGen API platform for classification of human genetic variants.
Authors: Shah N. , Farris T. , Zuniga A.A. , Jackson A.R. , Arce J. , Riehle K. , Preston C.G. , Mandell M.E. , Wulf B. , Cheung G. , et al. .
Source: Cell Genomics, 2026-04-08 00:00:00.0; 6(4), p. 101211.
PMID: 41956073
Related Citations
Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.
Authors: Yu K. , Zhao H. , Wilderman A.S. , Farris T.R. , Arce J.E. , Chen D. , Jackson A.R. , Guo Y. , Li Q. , Jevtic B. , et al. .
Source: Bioinformatics (oxford, England), 2026-02-28 00:00:00.0; 42(3), .
PMID: 41557842
Related Citations
Distinct mutational landscapes when comparing germline and somatic cancer variants in forty tumor suppressor genes.
Authors: Lulla S.D. , Ritter D.I. , Kesserwan C. , Plon S.E. .
Source: Biorxiv : The Preprint Server For Biology, 2026-02-28 00:00:00.0; , .
EPub date: 2026-02-28 00:00:00.0.
PMID: 42124672
Related Citations
Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.
Authors: Eldomery M.K. , Dieseldorff Jones K.M. , Namwanje M. , Kumar R.D. , Li J. , Wilkinson M. , Wang L. , Klco J.M. , Tang L. , Neary J.L. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2025-11-22 00:00:00.0; , .
EPub date: 2025-11-22 00:00:00.0.
PMID: 41332868
Related Citations
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Authors: Fortuno C. , Frone M.N. , Mester J. , de la Hoya M. , Mai P.L. , Pesaran T. , Achatz M.I. , Bassett R. , Bustamante C. , Crowley S. , et al. .
Source: Genome Medicine, 2025-10-22 00:00:00.0; 17(1), p. 128.
EPub date: 2025-10-22 00:00:00.0.
PMID: 41126324
Related Citations
Mondo: Integrating Disease Terminology Across Communities.
Authors: Vasilevsky N.A. , Toro S. , Matentzoglu N. , Flack J.E. , Mullen K.R. , Hegde H. , Gehrke S. , Whetzel P.L. , Shwetar Y. , Harris N.L. , et al. .
Source: Genetics, 2025-10-06 00:00:00.0; , .
EPub date: 2025-10-06 00:00:00.0.
PMID: 41052288
Related Citations
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Authors: Johnston J.J. , Lee K. , Ritter D.I. , Harrison S.M. , Biesecker L.G. .
Source: Biorxiv : The Preprint Server For Biology, 2025-09-20 00:00:00.0; , .
EPub date: 2025-09-20 00:00:00.0.
PMID: 41000626
Related Citations
Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.
Authors: Satish S. , Bone M. , Ritter D. , Plon S.E. .
Source: Cancer Genetics, 2025 Sep; 296-297, p. 84-87.
EPub date: 2025-06-16 00:00:00.0.
PMID: 40617178
Related Citations
ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.
Authors: Ritter D.I. , Mandell M. , Preston C. , DiStefano M. , Bryant S.M. , Carstens N. , Julius R.S. , Lumaka A. , Hedge M. , Ngeow J. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2025-08-28 00:00:00.0; , .
EPub date: 2025-08-28 00:00:00.0.
PMID: 40909852
Related Citations
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.
Authors: Ritter D.I. , Badduke C. , Doonanco K. , Kang H.C. , Pesaran T. , Ridd S. , Sheen C. , Farncombe K.M. , Giles R.H. , Luo M. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2025-08-27 00:00:00.0; , .
EPub date: 2025-08-27 00:00:00.0.
PMID: 40909814
Related Citations
Toward an integrated resource for pharmacogenomics (PGx): Survey findings from the genomic medicine communities.
Authors: Klein C.J. , Gong L. , Caudle K.E. , Naik H. , Empey P.E. , Hoffman J.M. , Scherer S. , Iwuchukwu O.F. , Gregornik D. , Monte A.A. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2025-07-12 00:00:00.0; 27(10), p. 101529.
EPub date: 2025-07-12 00:00:00.0.
PMID: 40662343
Related Citations
Mapping MAVE data for use in human genomics applications.
Authors: Arbesfeld J.A. , Da E.Y. , Stevenson J.S. , Kuzma K. , Paul A. , Farris T. , Capodanno B.J. , Grindstaff S.B. , Riehle K. , Saraiva-Agostinho N. , et al. .
Source: Genome Biology, 2025-06-25 00:00:00.0; 26(1), p. 179.
EPub date: 2025-06-25 00:00:00.0.
PMID: 40563119
Related Citations
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Authors: Bergquist T. , Stenton S.L. , Nadeau E.A.W. , Byrne A.B. , Greenblatt M.S. , Harrison S.M. , Tavtigian S.V. , O'Donnell-Luria A. , Biesecker L.G. , Radivojac P. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2025 Jun; 27(6), p. 101402.
EPub date: 2025-03-10 00:00:00.0.
PMID: 40084623
Related Citations
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource.
Authors: Popejoy A.B. , Ritter D.I. , Azzariti D. , Berg J.S. , Bulkley J.E. , Cho M. , Gonzaga-Jauregui C. , Klein T.E. , Martschenko D.O. , Oni-Orisan A. , et al. .
Source: American Journal Of Human Genetics, 2025-02-06 00:00:00.0; 112(2), p. 215-223.
EPub date: 2025-01-09 00:00:00.0.
PMID: 39793579
Related Citations
Genetics of cardiometabolic disease progression.
Authors: Rivas M.A. , Justesen J.M. , Venkataraman G. , Tibshirani R. , Li R. , Hastie T. , Knowles J. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2025-02-03 00:00:00.0; , .
EPub date: 2025-02-03 00:00:00.0.
PMID: 39974115
Related Citations
Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG).
Authors: Gong L. , Klein C.J. , Caudle K.E. , Moyer A.M. , Scott S.A. , Whirl-Carrillo M. , Klein T.E. , ClinGen Pharmacogenomics Working Group (PGxWG) .
Source: Clinical Chemistry, 2025-01-03 00:00:00.0; 71(1), p. 36-44.
PMID: 39749515
Related Citations
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation.
Authors: ClinGen Consortium. Electronic address: splon@bcm.edu , ClinGen Consortium .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2025 Jan; 27(1), p. 101228.
EPub date: 2024-10-15 00:00:00.0.
PMID: 39404758
Related Citations
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Authors: Broeren E.C. , Gitau V.N. , Byrne A.B. , Ajuyah P. , Balzotti M.B. , Berg J.S. , Bluske K. , Bowen B.M. , Brown M.P. , Buchanan A. , et al. .
Source: Genetics In Medicine Open, 2025; 3, p. 103429.
EPub date: 2025-04-09 00:00:00.0.
PMID: 40496713
Related Citations
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Authors: Wilcox E.H. , Webb R.F. , Tshering K.C. , Hughes M.Y. , Cavé H. , DiStefano M.T. , Dziadzio H. , Garber K. , Gelb B.D. , Gripp K.W. , et al. .
Source: Genetics In Medicine Open, 2025; 3, p. 103430.
EPub date: 2025-04-17 00:00:00.0.
PMID: 40496714
Related Citations
Experiences in providing a community educational resource for the All of Us Researcher Workbench.
Authors: Ritter D.I. , Byun J. , Wang J. , Richards S. , Luna P.N. , Williams L. , Coleman J.R. , Baker J.N. , Ketkar S. , Butler A.M. , et al. .
Source: Journal Of The American Medical Informatics Association : Jamia, 2024-12-01 00:00:00.0; 31(12), p. 2952-2957.
PMID: 39259934
Related Citations
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Authors: Broeren E. , Gitau V. , Byrne A. , Ajuyah P. , Balzotti M. , Berg J. , Bluske K. , Bowen B.M. , Brown M.P. , Buchanan A. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2024-11-20 00:00:00.0; , .
EPub date: 2024-11-20 00:00:00.0.
PMID: 39606380
Related Citations
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Authors: Yin X. , Richardson M. , Laner A. , Shi X. , Ognedal E. , Vasta V. , Hansen T.V.O. , Pineda M. , Ritter D. , de Dunnen J. , et al. .
Source: American Journal Of Human Genetics, 2024-11-07 00:00:00.0; 111(11), p. 2427-2443.
EPub date: 2024-10-01 00:00:00.0.
PMID: 39357517
Related Citations
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.
Authors: Groopman E. , Mohan S. , Waddell A. , Wilke M. , Fernandez R. , Weaver M. , Chen H. , Liu H. , Bali D. , Baudet H. , et al. .
Source: Molecular Genetics And Metabolism, 2024 Nov; 143(3), p. 108593.
EPub date: 2024-10-12 00:00:00.0.
PMID: 39426251
Related Citations
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Authors: Bergquist T. , Stenton S.L. , Nadeau E.A.W. , Byrne A.B. , Greenblatt M.S. , Harrison S.M. , Tavtigian S.V. , O'Donnell-Luria A. , Biesecker L.G. , Radivojac P. , et al. .
Source: Biorxiv : The Preprint Server For Biology, 2024-09-21 00:00:00.0; , .
EPub date: 2024-09-21 00:00:00.0.
PMID: 39345488
Related Citations
Implementation of a dyadic nomenclature for monogenic diseases.
Authors: Thaxton C. , Biesecker L.G. , DiStefano M. , Haendel M. , Hamosh A. , Owens E. , Plon S.E. , Rehm H.L. , Berg J.S. .
Source: American Journal Of Human Genetics, 2024-09-05 00:00:00.0; 111(9), p. 1810-1818.
PMID: 39241757
Related Citations
Developing a scoring system for gene curation prioritization in lysosomal diseases.
Authors: Vernet Machado Bressan Wilke M. , Goldstein J. , Groopman E. , Mohan S. , Waddell A. , Fernandez R. , Chen H. , Bali D. , Baudet H. , Clarke L. , et al. .
Source: Molecular Genetics And Metabolism, 2024 Sep-Oct; 143(1-2), p. 108572.
EPub date: 2024-09-05 00:00:00.0.
PMID: 39265286
Related Citations
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Authors: Wright M.W. , Thaxton C.L. , Nelson T. , DiStefano M.T. , Savatt J.M. , Brush M.H. , Cheung G. , Mandell M.E. , Wulf B. , Ward T.J. , et al. .
Source: Annual Review Of Biomedical Data Science, 2024 Aug; 7(1), p. 31-50.
EPub date: 2024-07-24 00:00:00.0.
PMID: 38663031
Related Citations
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Authors: Stenton S.L. , Pejaver V. , Bergquist T. , Biesecker L.G. , Byrne A.B. , Nadeau E.A.W. , Greenblatt M.S. , Harrison S.M. , Tavtigian S.V. , Radivojac P. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2024-07-16 00:00:00.0; , p. 101213.
EPub date: 2024-07-16 00:00:00.0.
PMID: 39030733
Related Citations
Curating Genetic Associations With Rheumatologic Autoimmune Diseases to Improve Patient Outcomes.
Authors: Bridges S.L. , Shapira R. , Aksentijevich I. , Mack S.J. , Merriman T.R. , Klein C.J. , Bowen B.M. , Klein T.E. , ClinGen Rheumatologic Autoimmune Disease Clinical Domain Working Group .
Source: Arthritis & Rheumatology (hoboken, N.j.), 2024-07-04 00:00:00.0; , .
EPub date: 2024-07-04 00:00:00.0.
PMID: 38965695
Related Citations
Mapping MAVE data for use in human genomics applications.
Authors: Arbesfeld J.A. , Da E.Y. , Stevenson J.S. , Kuzma K. , Paul A. , Farris T. , Capodanno B.J. , Grindstaff S.B. , Riehle K. , Saraiva-Agostinho N. , et al. .
Source: Biorxiv : The Preprint Server For Biology, 2024-06-30 00:00:00.0; , .
EPub date: 2024-06-30 00:00:00.0.
PMID: 38979347
Related Citations
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Authors: Yin X. , Richardson M. , Laner A. , Shi X. , Ognedal E. , Vasta V. , Hansen T.V.O. , Pineda M. , Ritter D. , den Dunnen J.T. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2024-05-04 00:00:00.0; , .
EPub date: 2024-05-04 00:00:00.0.
PMID: 38746299
Related Citations
Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?
Authors: Kratz C.P. , Lupo P.J. , Zelley K. , Schienda J. , Nichols K.E. , Stewart D.R. , Malkin D. , Brodeur G.M. , Maxwell K. , Plon S.E. , et al. .
Source: Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research, 2024-05-01 00:00:00.0; 30(9), p. 1733-1738.
PMID: 38411636
Related Citations
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Authors: Goldstein J. , Thomas-Wilson A. , Groopman E. , Aggarwal V. , Bianconi S. , Fernandez R. , Hart K. , Longo N. , Liang N. , Reich D. , et al. .
Source: Molecular Genetics And Metabolism, 2024 May; 142(1), p. 108362.
EPub date: 2024-03-02 00:00:00.0.
PMID: 38452609
Related Citations
Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Authors: Claussnitzer M. , Parikh V.N. , Wagner A.H. , Arbesfeld J.A. , Bult C.J. , Firth H.V. , Muffley L.A. , Nguyen Ba A.N. , Riehle K. , Roth F.P. , et al. .
Source: Genome Biology, 2024-04-19 00:00:00.0; 25(1), p. 100.
EPub date: 2024-04-19 00:00:00.0.
PMID: 38641812
Related Citations
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Authors: Stenton S.L. , Pejaver V. , Bergquist T. , Biesecker L.G. , Byrne A.B. , Nadeau E. , Greenblatt M.S. , Harrison S. , Tavtigian S. , Radivojac P. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2024-03-07 00:00:00.0; , .
EPub date: 2024-03-07 00:00:00.0.
PMID: 38496501
Related Citations
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Authors: Spier I. , Yin X. , Richardson M. , Pineda M. , Laner A. , Ritter D. , Boyle J. , Mur P. , Hansen T.V.O. , Shi X. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2024 Feb; 26(2), p. 100992.
EPub date: 2023-10-04 00:00:00.0.
PMID: 37800450
Related Citations
Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity.
Authors: Hirschi O.R. , Felker S.A. , Rednam S.P. , Vallance K.L. , Parsons D.W. , Roy A. , Cooper G.M. , Plon S.E. .
Source: Genetics In Medicine Open, 2024; 2, p. 101850.
EPub date: 2024-05-15 00:00:00.0.
PMID: 39669609
Related Citations
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1.
Authors: DeMille D. , McDonald J. , Bernabeu C. , Racher H. , Olivieri C. , Cantarini C. , Sbalchiero A. , Thompson B.A. , Jovine L. , Shovlin C.L. , et al. .
Source: Human Mutation, 2024; 2024, p. 3043736.
EPub date: 2024-05-18 00:00:00.0.
PMID: 40225928
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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Authors: Schmidt R.J. , Steeves M. , Bayrak-Toydemir P. , Benson K.A. , Coe B.P. , Conlin L.K. , Ganapathi M. , Garcia J. , Gollob M.H. , Jobanputra V. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2023-12-03 00:00:00.0; 26(3), p. 101036.
EPub date: 2023-12-03 00:00:00.0.
PMID: 38054408
Related Citations
Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.
Authors: Hirschi O.R. , Felker S.A. , Rednam S.P. , Vallance K.L. , Parsons D.W. , Roy A. , Cooper G.M. , Plon S.E. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2023-11-01 00:00:00.0; , .
EPub date: 2023-11-01 00:00:00.0.
PMID: 37961416
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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Authors: Koop K. , Yuan W. , Tessadori F. , Rodriguez-Polanco W.R. , Grubbs J. , Zhang B. , Osmond M. , Graham G. , Sawyer S. , Conboy E. , et al. .
Source: Human Molecular Genetics, 2023-10-17 00:00:00.0; 32(21), p. 3063-3077.
PMID: 37552066
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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Authors: Flowers M. , Dickson A. , Miller M.J. , Spector E. , Enns G.M. , Baudet H. , Pasquali M. , Racacho L. , Sadre-Bazzaz K. , Wen T. , et al. .
Source: Molecular Genetics And Metabolism, 2023-07-26 00:00:00.0; 140(3), p. 107668.
EPub date: 2023-07-26 00:00:00.0.
PMID: 37549443
Related Citations
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
Authors: Claussnitzer M. , Parikh V.N. , Wagner A.H. , Arbesfeld J.A. , Bult C.J. , Firth H.V. , Muffley L.A. , Ba A.N.N. , Riehle K. , Roth F.P. , et al. .
Source: Arxiv, 2023-06-26 00:00:00.0; , .
EPub date: 2023-06-26 00:00:00.0.
PMID: 37426450
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