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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O. Pekkinen M, et al. JCI Insight. 2019 Apr 4;4(7):e126180. doi: 10.1172/jci.insight.126180. eCollection 2019 Apr 4. JCI Insight. 2019. PMID: 30779713 Free PMC article.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R. Brunelli L, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13. Mol Genet Genomic Med. 2019. PMID: 31192527 Free PMC article.
157 results