Johann PD, Altendorf L, Efremova EM, Holsten T, Steinb?gl M, Nemes K, Eckhardt A, Kresbach C, Bockmayr M, Koch A, Haberler C, Antonelli M, DeSisto J, Schuhmann MU, Hauser P, Siebert R, Bens S, Kool M, Green AL, Hasselblatt M, Fr?hwald MC, Sch?ller U. Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics. Acta Neuropathol. 2023 09; 146(3):527-541.

Garzia L, Kijima N, Morrissy AS, De Antonellis P, Guerreiro-Stucklin A, Holgado BL, Wu X, Wang X, Parsons M, Zayne K, Manno A, Kuzan-Fischer C, Nor C, Donovan LK, Liu J, Qin L, Garancher A, Liu KW, Mansouri S, Luu B, Thompson YY, Ramaswamy V, Peacock J, Farooq H, Skowron P, Shih DJH, Li A, Ensan S, Robbins CS, Cybulsky M, Mitra S, Ma Y, Moore R, Mungall A, Cho YJ, Weiss WA, Chan JA, Hawkins CE, Massimino M, Jabado N, Zapotocky M, Sumerauer D, Bouffet E, Dirks P, Tabori U, Sorensen PHB, Brastianos PK, Aldape K, Jones SJM, Marra MA, Woodgett JR, Wechsler-Reya RJ, Fults DW, Taylor MD. A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases. Cell. 2018 02 22; 172(5):1050-1062.e14.

do Rego Borges A, S? J, Hoshi R, Viena CS, Mariano LC, de Castro Veiga P, Medrado AP, Machado RA, de Aquino SN, Messetti AC, Spritz RA, Coletta RD, Reis SR. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry. Am J Med Genet A. 2015 Oct; 167A(10):2344-9.

Aquilante CL, Niemi M, Gong L, Altman RB, Klein TE. PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 8. Pharmacogenet Genomics. 2013 Dec; 23(12):721-8.

Septer S, Zhang L, Lawson CE, Cocjin J, Attard T, Ardinger HH. Aggressive juvenile polyposis in children with chromosome 10q23 deletion. World J Gastroenterol. 2013; 19(14):2286-92.

Hansel NN, Ruczinski I, Rafaels N, Sin DD, Daley D, Malinina A, Huang L, Sandford A, Murray T, Kim Y, Vergara C, Heckbert SR, Psaty BM, Li G, Elliott WM, Aminuddin F, Dupuis J, O'Connor GT, Doheny K, Scott AF, Boezen HM, Postma DS, Smolonska J, Zanen P, Mohamed Hoesein FA, de Koning HJ, Crystal RG, Tanaka T, Ferrucci L, Silverman E, Wan E, Vestbo J, Lomas DA, Connett J, Wise RA, Neptune ER, Mathias RA, Par? PD, Beaty TH, Barnes KC. Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD. Hum Genet. 2013 Jan; 132(1):79-90.

Di Paola J, Johnson J. Thrombocytopenias due to gray platelet syndrome or THC2 mutations. Semin Thromb Hemost. 2011 Sep; 37(6):690-7.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.

Ghiasvand NM, Rudolph DD, Mashayekhi M, Brzezinski JA, Goldman D, Glaser T. Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. Nat Neurosci. 2011 May; 14(5):578-86.

Wang Y, Ray AM, Johnson EK, Zuhlke KA, Cooney KA, Lange EM. Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: the Flint Men's Health Study. Prostate. 2011 Feb 15; 71(3):225-31.