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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Nallamilli BRR, et al. Among authors: bean l. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec. Ann Clin Transl Neurol. 2018. PMID: 30564623 Free PMC article.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Eno C, et al. Among authors: bean l. Genet Med. 2019 Apr;21(4):861-866. doi: 10.1038/s41436-018-0265-4. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214068 Free article.
Epidemiology of Down syndrome.
Sherman SL, Allen EG, Bean LH, Freeman SB. Sherman SL, et al. Among authors: bean lh. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7. doi: 10.1002/mrdd.20157. Ment Retard Dev Disabil Res Rev. 2007. PMID: 17910090 Review.
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. McKnight D, et al. Among authors: bean l. Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2. Hum Mutat. 2022. PMID: 34837432 Free PMC article.
168 results