Below are the most recent publications written about "Genetic Diseases, Inborn" by people in Profiles.
-
Tarasco E, Bütikofer L, Friedman KD, George JN, Hrachovinova I, Knöbl PN, Matsumoto M, von Krogh AS, Aebi-Huber I, Cermakova Z, Górska-Kosicka M, Jalowiec KA, Largiadèr CR, Prohászka Z, Sinkovits G, Windyga J, Lämmle B, Kremer Hovinga JA. Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura. Blood. 2021 06 24; 137(25):3563-3575.
-
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15.
-
Kasht R, Borogovac A, George JN. Frequency and severity of pregnancy complications in women with hereditary thrombotic thrombocytopenic purpura. Am J Hematol. 2020 11; 95(11):E316-E318.
-
Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L. Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018 07 26; 3(14).
-
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science. 2018 03 16; 359(6381):1233-1239.
-
Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, Whisenhunt KN, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Tanna CE, Hewitt AW, Mackey DA, Bradfield YS, Souzeau E, Javadiyan S, Wiggs JL, Pasutto F, Liu X, John SW, Craig JE, Jin J, Young TL, Quaggin SE. Angiopoietin-1 is required for Schlemm's canal development in mice and humans. J Clin Invest. 2017 12 01; 127(12):4421-4436.
-
Makarova-Rusher OV, Altekruse SF, McNeel TS, Ulahannan S, Duffy AG, Graubard BI, Greten TF, McGlynn KA. Population attributable fractions of risk factors for hepatocellular carcinoma in the United States. Cancer. 2016 06 01; 122(11):1757-65.
-
Takahashi Y, Moiseyev G, Ma JX. Identification of key residues determining isomerohydrolase activity of human RPE65. J Biol Chem. 2014 Sep 26; 289(39):26743-26751.
-
Chernausek SD. Whole exome sequencing in short stature: finding needles in the haystack. Horm Res Paediatr. 2014; 82(1):1-2.
-
Hannan KM, Sanij E, Rothblum LI, Hannan RD, Pearson RB. Dysregulation of RNA polymerase I transcription during disease. Biochim Biophys Acta. 2013 Mar-Apr; 1829(3-4):342-60.