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
Molecular markers associated with the outcome of tamoxifen treatment in estrogen receptor-positive breast cancer patients: scoping review and in silico analysis.
Discover. Oncology
Dal Berto, Maiquidieli M; Dos Santos, Giovana Tavares GT; Dos Santos, Aniúsca Vieira AV; Silva, Andrew Oliveira AO; Vargas, José Eduardo JE; Alves, Rafael José Vargas RJV; Barbisan, Fernanda F; da Cruz, Ivana Beatrice Mânica IBM; Bica, Claudia Giuliano CG
A systematic review of common genetic variation and biological pathways in autism spectrum disorder.
Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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.
Genetic variants and traits related to insulin-like growth factor-I and insulin resistance and their interaction with lifestyles on postmenopausal colorectal cancer risk.
Plos One
Jung, Su Yon SY; Rohan, Thomas T; Strickler, Howard H; Bea, Jennifer J; Zhang, Zuo-Feng ZF; Ho, Gloria G; Crandall, Carolyn C
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 nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Ding, Yuan C YC; McGuffog, Lesley L; Healey, Sue S; Friedman, Eitan E; Laitman, Yael Y; Paluch-Shimon, Shani- S; Kaufman, Bella B; , ; Liljegren, Annelie A; Lindblom, Annika A; Olsson, Håkan H; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Melin, Beatrice B; Domchek, Susan M SM; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Durda, Katarzyna K; Gronwald, Jacek J; Huzarski, Tomasz T; Cybulski, Cezary C; Byrski, Tomasz T; Osorio, Ana A; Cajal, Teresa Ramóny TR; Stavropoulou, Alexandra V AV; Benítez, Javier J; Hamann, Ute U; , ; Rookus, Matti M; Aalfs, Cora M CM; de Lange, Judith L JL; Meijers-Heijboer, Hanne E J HE; Oosterwijk, Jan C JC; van Asperen, Christi J CJ; Gómez García, Encarna B EB; Hoogerbrugge, Nicoline N; Jager, Agnes A; van der Luijt, Rob B RB; , ; Easton, Douglas F DF; Peock, Susan S; Frost, Debra D; Ellis, Steve D SD; Platte, Radka R; Fineberg, Elena E; Evans, D Gareth DG; Lalloo, Fiona F; Izatt, Louise L; Eeles, Ros R; Adlard, Julian J; Davidson, Rosemarie R; Eccles, Diana D; Cole, Trevor T; Cook, Jackie J; Brewer, Carole C; Tischkowitz, Marc M; Godwin, Andrew K AK; Pathak, Harsh H; , ; Stoppa-Lyonnet, Dominique D; Sinilnikova, Olga M OM; Mazoyer, Sylvie S; Barjhoux, Laure L; Léoné, Mélanie M; Gauthier-Villars, Marion M; Caux-Moncoutier, Virginie V; de Pauw, Antoine A; Hardouin, Agnès A; Berthet, Pascaline P; Dreyfus, Hélène H; Ferrer, Sandra Fert SF; Collonge-Rame, Marie-Agnès MA; Sokolowska, Johanna J; Buys, Saundra S; Daly, Mary M; Miron, Alex A; Terry, Mary Beth MB; Chung, Wendy W; John, Esther M EM; Southey, Melissa M; Goldgar, David D; Singer, Christian F CF; Tea, Muy-Kheng Maria MK; Gschwantler-Kaulich, Daphne D; Fink-Retter, Anneliese A; Hansen, Thomas V O TV; Ejlertsen, Bent B; Johannsson, Oskar T OT; Offit, Kenneth K; Sarrel, Kara K; Gaudet, Mia M MM; Vijai, Joseph J; Robson, Mark M; Piedmonte, Marion R MR; Andrews, Lesley L; Cohn, David D; DeMars, Leslie R LR; DiSilvestro, Paul P; Rodriguez, Gustavo G; Toland, Amanda Ewart AE; Montagna, Marco M; Agata, Simona S; Imyanitov, Evgeny E; Isaacs, Claudine C; Janavicius, Ramunas R; Lazaro, Conxi C; Blanco, Ignacio I; Ramus, Susan J SJ; Sucheston, Lara L; Karlan, Beth Y BY; Gross, Jenny J; Ganz, Patricia A PA; Beattie, Mary S MS; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Meindl, Alfons A; Arnold, Norbert N; Niederacher, Dieter D; Preisler-Adams, Sabine S; Gadzicki, Dorotehea D; Varon-Mateeva, Raymonda R; Deissler, Helmut H; Gehrig, Andrea A; Sutter, Christian C; Kast, Karin K; Nevanlinna, Heli H; Aittomäki, Kristiina K; Simard, Jacques J; , ; Spurdle, Amanda B AB; Beesley, Jonathan J; Chen, Xiaoqing X; Tomlinson, Gail E GE; Weitzel, Jeffrey J; Garber, Judy E JE; Olopade, Olufunmilayo I OI; Rubinstein, Wendy S WS; Tung, Nadine N; Blum, Joanne L JL; Narod, Steven A SA; Brummel, Sean S; Gillen, Daniel L DL; Lindor, Noralane N; Fredericksen, Zachary Z; Pankratz, Vernon S VS; Couch, Fergus J FJ; Radice, Paolo P; Peterlongo, Paolo P; Greene, Mark H MH; Loud, Jennifer T JT; Mai, Phuong L PL; Andrulis, Irene L IL; Glendon, Gord G; Ozcelik, Hilmi H; , ; Gerdes, Anne-Marie AM; Thomassen, Mads M; Jensen, Uffe Birk UB; Skytte, Anne-Bine AB; Caligo, Maria A MA; Lee, Andrew A; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Neuhausen, Susan L SL; ,
The Gly(972)Arg variant of human IRS1 gene is associated with variation in glomerular filtration rate likely through impaired insulin receptor signaling.
Diabetes
Thameem, Farook F; Puppala, Sobha S; Schneider, Jennifer J; Bhandari, Basant B; Arya, Rector R; Arar, Nedal H NH; Vasylyeva, Tetyana L TL; Farook, Vidya S VS; Fowler, Sharon S; Almasy, Laura L; Blangero, John J; Duggirala, Ravindranath R; Abboud, Hanna E HE
Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
Breast Cancer Research : Bcr
Neuhausen, Susan L SL; Brummel, Sean S; Ding, Yuan Chun YC; Singer, Christian F CF; Pfeiler, Georg G; Lynch, Henry T HT; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Garber, Judy E JE; Couch, Fergus F; Weitzel, Jeffrey J; Narod, Steven A SA; Ganz, Patricia A PA; Daly, Mary B MB; Godwin, Andrew K AK; Isaacs, Claudine C; Olopade, Olufunmilayo I OI; Tomlinson, Gail G; Rubinstein, Wendy S WS; Tung, Nadine N; Blum, Joanne L JL; Gillen, Daniel L DL