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Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.
Potter SN, Reynolds E, Okoniewski KC, Edwards A, Gable J, Hill C, Bakalov V, Zentz S, Whiting C, Cheves E, Garbarini K, Jalazo E, Howell C, Moore A, Wheeler A. Potter SN, et al. Among authors: moore a. Ther Adv Rare Dis. 2024 May 27;5:26330040241254122. doi: 10.1177/26330040241254122. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 38808315 Free PMC article. Review.
Age of diagnosis for children with chromosome 15q syndromes.
Wheeler AC, Gantz MG, Cope H, Strong TV, Bohonowych JE, Moore A, Vogel-Farley V. Wheeler AC, et al. Among authors: moore a. J Neurodev Disord. 2023 Nov 7;15(1):37. doi: 10.1186/s11689-023-09504-x. J Neurodev Disord. 2023. PMID: 37936142 Free PMC article.
Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).
Gomes AT, Moore A, Cross M, Hardesty C, David K, Sampedro MG, Dube S, Weil-Chalker S, Montepagano AG, Christel U, Martin R, Wheeler A, Tan WH, Bird LM, Bichell TJ. Gomes AT, et al. Among authors: moore a. Am J Med Genet A. 2024 Dec 16:e63961. doi: 10.1002/ajmg.a.63961. Online ahead of print. Am J Med Genet A. 2024. PMID: 39679858
Call to Improve Coding of Cancer-Associated Cachexia.
Goncalves MD, Dunne RF, Moore AC, Phillips W, Heymsfield SB, Brown JC, Talbert EE, Janowitz T. Goncalves MD, et al. Among authors: moore ac. JCO Oncol Pract. 2025 Jan 13:OP2400781. doi: 10.1200/OP-24-00781. Online ahead of print. JCO Oncol Pract. 2025. PMID: 39805066
Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine.
Furrow E, Peralta JA, Moore AR, Minor KM, Guerrero C, Hemmila CR, DiCiccio V, Cullen JN, Friedenberg SG, Giger U. Furrow E, et al. Among authors: moore ar. Genes (Basel). 2024 Nov 30;15(12):1561. doi: 10.3390/genes15121561. Genes (Basel). 2024. PMID: 39766828 Free PMC article.
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.
Billingsley KJ, Meredith M, Daida K, Alvarez Jerez P, Negi S, Malik L, Genner RM, Moller A, Zheng X, Gibson SB, Mastoras M, Baker B, Kouam C, Paquette K, Jarreau P, Makarious MB, Moore A, Hong S, Vitale D, Shah S, Monlong J, Pantazis CB, Asri M, Shafin K, Carnevali P, Marenco S, Auluck P, Mandal A, Miga KH, Rhie A, Reed X, Ding J, Cookson MR, Nalls M, Singleton A, Miller DE, Chaisson M, Timp W, Gibbs JR, Phillippy AM, Kolmogorov M, Jain M, Sedlazeck FJ, Paten B, Blauwendraat C. Billingsley KJ, et al. Among authors: moore a. bioRxiv [Preprint]. 2024 Dec 17:2024.12.16.628723. doi: 10.1101/2024.12.16.628723. bioRxiv. 2024. PMID: 39764002 Free PMC article. Preprint.
6,820 results