Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Epigenome-wide association study of acute lymphoblastic leukemia in children with Down syndrome.
Blood Advances
Li, Shaobo S; Sok, Pagna P; Xu, Keren K; Muskens, Ivo S IS; Elliott, Natalina N; Myint, Swe Swe SS; Pandey, Priyatama P; Hansen, Helen M HM; Morimoto, Libby M LM; Kang, Alice Y AY; Metayer, Catherine C; Ma, Xiaomei X; Mueller, Beth A BA; Roy, Anindita A; Roberts, Irene I; Rabin, Karen R KR; Brown, Austin L AL; Lupo, Philip J PJ; Wiemels, Joseph L JL; de Smith, Adam J AJ
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Cancers
Gargallo, Pablo P; Oltra, Silvestre S; Yáñez, Yania Y; Juan-Ribelles, Antonio A; Calabria, Inés I; Segura, Vanessa V; Lázaro, Marián M; Balaguer, Julia J; Tormo, Teresa T; Dolz, Sandra S; Fernández, José María JM; Fuentes, Carolina C; Torres, Bárbara B; Andrés, Mara M; Tasso, María M; Castel, Victoria V; Font de Mora, Jaime J; Cañete, Adela A
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
European Journal Of Human Genetics : Ejhg
Fokkema, Ivo F A C IFAC; Kroon, Mark M; López Hernández, Julia A JA; Asscheman, Daan D; Lugtenburg, Ivar I; Hoogenboom, Jerry J; den Dunnen, Johan T JT
Publication Date: 2021-12
Variant appearance in text: CDKN2A: 442G>T; Ala148Ser
Hypertension and the roles of the 9p21.3 risk locus: Classic findings and new association data.
International Journal Of Cardiology. Hypertension
Gallo, Juan E JE; Ochoa, Juan E JE; Warren, Helen R HR; Misas, Elizabeth E; Correa, Monica M MM; Gallo-Villegas, Jaime A JA; Bedoya, Gabriel G; Aristizábal, Dagnóvar D; McEwen, Juan G JG; Caulfield, Mark J MJ; Parati, Gianfranco G; Clay, Oliver K OK
Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma.
Plos One
Moschos, Marilita M MM; Dettoraki, Maria M; Karekla, Aggela A; Lamprinakis, Ioannis I; Damaskos, Christos C; Gouliopoulos, Nikolaos N; Tibilis, Marios M; Gazouli, Maria M
Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Semmes, Eleanor C EC; Vijayakrishnan, Jayaram J; Zhang, Chenan C; Hurst, Jillian H JH; Houlston, Richard S RS; Walsh, Kyle M KM
Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia.
Blood Advances
Winer, Peleg P; Muskens, Ivo S IS; Walsh, Kyle M KM; Vora, Ajay A; Moorman, Anthony V AV; Wiemels, Joseph L JL; Roberts, Irene I; Roy, Anindita A; de Smith, Adam J AJ
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Bmc Cancer
Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome.
Blood
Brown, Austin L AL; de Smith, Adam J AJ; Gant, Vincent U VU; Yang, Wenjian W; Scheurer, Michael E ME; Walsh, Kyle M KM; Chernus, Jonathan M JM; Kallsen, Noah A NA; Peyton, Shanna A SA; Davies, Gareth E GE; Ehli, Erik A EA; Winick, Naomi N; Heerema, Nyla A NA; Carroll, Andrew J AJ; Borowitz, Michael J MJ; Wood, Brent L BL; Carroll, William L WL; Raetz, Elizabeth A EA; Feingold, Eleanor E; Devidas, Meenakshi M; Barcellos, Lisa F LF; Hansen, Helen M HM; Morimoto, Libby L; Kang, Alice Y AY; Smirnov, Ivan I; Healy, Jasmine J; Laverdière, Caroline C; Sinnett, Daniel D; Taub, Jeffrey W JW; Birch, Jillian M JM; Thompson, Pamela P; Spector, Logan G LG; Pombo-de-Oliveira, Maria S MS; DeWan, Andrew T AT; Mullighan, Charles G CG; Hunger, Stephen P SP; Pui, Ching-Hon CH; Loh, Mignon L ML; Zwick, Michael E ME; Metayer, Catherine C; Ma, Xiaomei X; Mueller, Beth A BA; Sherman, Stephanie L SL; Wiemels, Joseph L JL; Relling, Mary V MV; Yang, Jun J JJ; Lupo, Philip J PJ; Rabin, Karen R KR
Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.
Frontiers In Genetics
Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I
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
Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.
Scientific Reports
Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y
Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility.
Plos One
Archer, Natalie P NP; Perez-Andreu, Virginia V; Stoltze, Ulrik U; Scheurer, Michael E ME; Wilkinson, Anna V AV; Lin, Ting-Nien TN; Qian, Maoxiang M; Goodings, Charnise C; Swartz, Michael D MD; Ranjit, Nalini N; Rabin, Karen R KR; Peckham-Gregory, Erin C EC; Plon, Sharon E SE; de Alarcon, Pedro A PA; Zabriskie, Ryan C RC; Antillon-Klussmann, Federico F; Najera, Cesar R CR; Yang, Jun J JJ; Lupo, Philip J PJ
Family-based exome-wide assessment of maternal genetic effects on susceptibility to childhood B-cell acute lymphoblastic leukemia in hispanics.
Cancer
Archer, Natalie P NP; Perez-Andreu, Virginia V; Scheurer, Michael E ME; Rabin, Karen R KR; Peckham-Gregory, Erin C EC; Plon, Sharon E SE; Zabriskie, Ryan C RC; De Alarcon, Pedro A PA; Fernandez, Karen S KS; Najera, Cesar R CR; Yang, Jun J JJ; Antillon-Klussmann, Federico F; Lupo, Philip J PJ
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
Nature Communications
Mitchell, Jonathan S JS; Li, Ni N; Weinhold, Niels N; Försti, Asta A; Ali, Mina M; van Duin, Mark M; Thorleifsson, Gudmar G; Johnson, David C DC; Chen, Bowang B; Halvarsson, Britt-Marie BM; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Henrion, Marc M; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Johnsson, Ellinor E; Jöud, Magnus M; Kristinsson, Sigurður Y SY; Lenhoff, Stig S; Lenive, Oleg O; Mellqvist, Ulf-Henrik UH; Migliorini, Gabriele G; Nahi, Hareth H; Nelander, Sven S; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Swaminathan, Bhairavi B; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Vogel, Ulla U; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Goldschmidt, Hartmut H; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS
The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A.
Scientific Reports
Vijayakrishnan, Jayaram J; Henrion, Marc M; Moorman, Anthony V AV; Fiege, Bettina B; Kumar, Rajiv R; da Silva Filho, Miguel Inacio MI; Holroyd, Amy A; Koehler, Rolf R; Thomsen, Hauke H; Irving, Julie A JA; Allan, James M JM; Lightfoot, Tracy T; Roman, Eve E; Kinsey, Sally E SE; Sheridan, Eamonn E; Thompson, Pamela D PD; Hoffmann, Per P; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Eisele, Lewin L; Bartram, Claus R CR; Schrappe, Martin M; Greaves, Mel M; Hemminki, Kari K; Harrison, Christine J CJ; Stanulla, Martin M; Houlston, Richard S RS
Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children.
Nature Communications
Xu, Heng H; Zhang, Hui H; Yang, Wenjian W; Yadav, Rachita R; Morrison, Alanna C AC; Qian, Maoxiang M; Devidas, Meenakshi M; Liu, Yu Y; Perez-Andreu, Virginia V; Zhao, Xujie X; Gastier-Foster, Julie M JM; Lupo, Philip J PJ; Neale, Geoff G; Raetz, Elizabeth E; Larsen, Eric E; Bowman, W Paul WP; Carroll, William L WL; Winick, Naomi N; Williams, Richard R; Hansen, Torben T; Holm, Jens-Christian JC; Mardis, Elaine E; Fulton, Robert R; Pui, Ching-Hon CH; Zhang, Jinghui J; Mullighan, Charles G CG; Evans, William E WE; Hunger, Stephen P SP; Gupta, Ramneek R; Schmiegelow, Kjeld K; Loh, Mignon L ML; Relling, Mary V MV; Yang, Jun J JJ
Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations.
Cancer Discovery
Tirode, Franck F; Surdez, Didier D; Ma, Xiaotu X; Parker, Matthew M; Le Deley, Marie Cécile MC; Bahrami, Armita A; Zhang, Zhaojie Z; Lapouble, Eve E; Grossetête-Lalami, Sandrine S; Rusch, Michael M; Reynaud, Stéphanie S; Rio-Frio, Thomas T; Hedlund, Erin E; Wu, Gang G; Chen, Xiang X; Pierron, Gaelle G; Oberlin, Odile O; Zaidi, Sakina S; Lemmon, Gordon G; Gupta, Pankaj P; Vadodaria, Bhavin B; Easton, John J; Gut, Marta M; Ding, Li L; Mardis, Elaine R ER; Wilson, Richard K RK; Shurtleff, Sheila S; Laurence, Valérie V; Michon, Jean J; Marec-Bérard, Perrine P; Gut, Ivo I; Downing, James J; Dyer, Michael M; Zhang, Jinghui J; Delattre, Olivier O; ,
Breast cancer subtypes and previously established genetic risk factors: a bayesian approach.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
O'Brien, Katie M KM; Cole, Stephen R SR; Engel, Lawrence S LS; Bensen, Jeannette T JT; Poole, Charles C; Herring, Amy H AH; Millikan, Robert C RC
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Hypermethylation of the 5' CpG island of the p14ARF flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression.
Clinical Epigenetics
Nyiraneza, Christine C; Sempoux, Christine C; Detry, Roger R; Kartheuser, Alex A; Dahan, Karin K
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR
Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Goode, Ellen L EL; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Phelan, Catherine M CM; Anderson, Stephanie S; Rider, David N DN; White, Kristin L KL; Pankratz, V Shane VS; Song, Honglin H; Hogdall, Estrid E; Kjaer, Susanne K SK; Whittemore, Alice S AS; DiCioccio, Richard R; Ramus, Susan J SJ; Gayther, Simon A SA; Schildkraut, Joellen M JM; Pharaoh, Paul P D PP; Sellers, Thomas A TA
Effects of common germ-line genetic variation in cell cycle genes on ovarian cancer survival.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Song, Honglin H; Hogdall, Estrid E; Ramus, Susan J SJ; Dicioccio, Richard A RA; Hogdall, Claus C; Quaye, Lydia L; McGuire, Valerie V; Whittemore, Alice S AS; Shah, Mitul M; Greenberg, David D; Easton, Douglas F DF; Kjaer, Susanne Kruger SK; Pharoah, Paul D P PD; Gayther, Simon A SA