Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.
Embo Molecular Medicine
Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R
Publication Date: 2021-08-09
Variant appearance in text: VWF: 5844C>T; Cys1948=; rs216902
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.
Haematologica
Casonato, Alessandra A; Daidone, Viviana V; Barbon, Giovanni G; Pontara, Elena E; Di Pasquale, Irene I; Gallinaro, Lisa L; Marullo, Letizia L; Bertorelle, Giorgio G
von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
Journal Of Thrombosis And Haemostasis : Jth
Hickson, N N; Hampshire, D D; Winship, P P; Goudemand, J J; Schneppenheim, R R; Budde, U U; Castaman, G G; Rodeghiero, F F; Federici, A B AB; James, P P; Peake, I I; Eikenboom, J J; Goodeve, A A; ,
Publication Date: 2010-09
Variant appearance in text: VWF: 5844C>T; rs216902
Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
Gastroenterology
Roberts, Kari E KE; Kawut, Steven M SM; Krowka, Michael J MJ; Brown, Robert S RS; Trotter, James F JF; Shah, Vijay V; Peter, Inga I; Tighiouart, Hocine H; Mitra, Nandita N; Handorf, Elizabeth E; Knowles, James A JA; Zacks, Steven S; Fallon, Michael B MB; ,
Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping.
Blood
Johnson, David C DC; Corthals, Sophie S; Ramos, Christine C; Hoering, Antje A; Cocks, Kim K; Dickens, Nicholas J NJ; Haessler, Jeff J; Goldschmidt, Harmut H; Child, J Anthony JA; Bell, Sue E SE; Jackson, Graham G; Baris, Dalsu D; Rajkumar, S Vincent SV; Davies, Faith E FE; Durie, Brian G M BG; Crowley, John J; Sonneveld, Pieter P; Van Ness, Brian B; Morgan, Gareth J GJ