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Year | Number of Results |
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2022 | 1 |
2024 | 2 |
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3.
Genome Med. 2022.
PMID: 35850704
Free PMC article.
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Cordova I, Blesson A, Savatt JM, Sveden A, Mahida S, Hazlett H, Rooney Riggs E, Chopra M; Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel.
Cordova I, et al.
Genes (Basel). 2024 Mar 28;15(4):423. doi: 10.3390/genes15040423.
Genes (Basel). 2024.
PMID: 38674358
Free PMC article.
Review.
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The Brain Gene Registry: a data snapshot.
Baldridge D, Kaster L, Sancimino C, Srivastava S, Molholm S, Gupta A, Oh I, Lanzotti V, Grewal D, Riggs ER, Savatt JM, Hauck R, Sveden A; Brain Gene Registry Consortium; Constantino JN, Piven J, Gurnett CA, Chopra M, Hazlett H, Payne PRO.
Baldridge D, et al.
J Neurodev Disord. 2024 Apr 17;16(1):17. doi: 10.1186/s11689-024-09530-3.
J Neurodev Disord. 2024.
PMID: 38632549
Free PMC article.
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