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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. Fortuno C, et al. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. Hum Mutat. 2021. PMID: 33300245 Free PMC article.
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Posey JE, et al. N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7. N Engl J Med. 2017. PMID: 27959697 Free PMC article.
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne… See abstract for full author list ➔ Srivastava AK, et al. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, …
Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from …
Identification of USP9X as a leukemia susceptibility gene.
Sisoudiya SD, Mishra P, Li H, Schraw JM, Scheurer ME, Salvi S, Doddapaneni H, Muzny D, Mitchell D, Taylor O, Sabo A, Lupo PJ, Plon SE. Sisoudiya SD, et al. Blood Adv. 2023 Aug 22;7(16):4563-4575. doi: 10.1182/bloodadvances.2023009814. Blood Adv. 2023. PMID: 37289514 Free PMC article.
Ancestry-specific predisposing germline variants in cancer.
Oak N, Cherniack AD, Mashl RJ; TCGA Analysis Network; Hirsch FR, Ding L, Beroukhim R, Gümüş ZH, Plon SE, Huang KL. Oak N, et al. Genome Med. 2020 May 29;12(1):51. doi: 10.1186/s13073-020-00744-3. Genome Med. 2020. PMID: 32471518 Free PMC article.
Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.
Mangum R, Reuther J, Sen Baksi K, Gandhi I, Zabriskie RC, Recinos A, Raesz-Martinez R, Lin FY, Potter SL, Sher AC, Kralik SF, Mohila CA, Chintagumpala MM, Muzny D, Hu J, Gibbs RA, Fisher KE, Bernini JC, Gill J, Griffin TC, Tomlinson GE, Vallance KL, Plon SE, Roy A, Parsons DW. Mangum R, et al. Pediatr Hematol Oncol. 2023;40(8):719-738. doi: 10.1080/08880018.2023.2228837. Epub 2023 Jun 27. Pediatr Hematol Oncol. 2023. PMID: 37366551
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
Circadian rhythm disruption impairs tissue homeostasis and exacerbates chronic inflammation in the intestine.
Pagel R, Bär F, Schröder T, Sünderhauf A, Künstner A, Ibrahim SM, Autenrieth SE, Kalies K, König P, Tsang AH, Bettenworth D, Divanovic S, Lehnert H, Fellermann K, Oster H, Derer S, Sina C. Pagel R, et al. FASEB J. 2017 Nov;31(11):4707-4719. doi: 10.1096/fj.201700141RR. Epub 2017 Jul 14. FASEB J. 2017. PMID: 28710114 Free PMC article.
., Schroder, T., Sunderhauf, A., Kunstner, A., Ibrahim, S. M., Autenrieth, S. E., Kalies, K., Konig, P., Tsang, A. H., Bettenworth, D., Divanovic, S., Lehnert, H., Fellermann, K., Oster, H., Derer, S., Sina, C. ...
., Schroder, T., Sunderhauf, A., Kunstner, A., Ibrahim, S. M., Autenrieth, S. E., Kalies, K., Konig, P., Tsang, A. H., Bettenw …
17 results