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
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.
British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.
Aids (London, England)
Sherman, Brad T BT; Hu, Xiaojun X; Singh, Kanal K; Haine, Lillian L; Rupert, Adam W AW; Neaton, James D JD; Lundgren, Jens D JD; Imamichi, Tomozumi T; Chang, Weizhong W; Lane, H Clifford HC; ,
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: HNF1A: 1545G>A; Thr515=
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
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
Precision medicine in adult and pediatric obesity: a clinical perspective.
Therapeutic Advances In Endocrinology And Metabolism
Bomberg, Eric M EM; Ryder, Justin R JR; Brundage, Richard C RC; Straka, Robert J RJ; Fox, Claudia K CK; Gross, Amy C AC; Oberle, Megan M MM; Bramante, Carolyn T CT; Sibley, Shalamar D SD; Kelly, Aaron S AS
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
Targeted next generation sequencing as a tool for precision medicine.
Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
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 and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Mutations in HNF1A Gene are not a Common Cause of Familial Young-Onset Diabetes in Iran.
Indian Journal Of Clinical Biochemistry : Ijcb
Moghbeli, Meysam M; Naghibzadeh, Bahram B; Ghahraman, Martha M; Fatemi, Sedigheh S; Taghavi, Morteza M; Vakili, Rahim R; Abbaszadegan, Mohammad Reza MR
Fuchsberger, Christian C; Flannick, Jason J; Teslovich, Tanya M TM; Mahajan, Anubha A; Agarwala, Vineeta V; Gaulton, Kyle J KJ; Ma, Clement C; Fontanillas, Pierre P; Moutsianas, Loukas L; McCarthy, Davis J DJ; Rivas, Manuel A MA; Perry, John R B JRB; Sim, Xueling X; Blackwell, Thomas W TW; Robertson, Neil R NR; Rayner, N William NW; Cingolani, Pablo P; Locke, Adam E AE; Tajes, Juan Fernandez JF; Highland, Heather M HM; Dupuis, Josee J; Chines, Peter S PS; Lindgren, Cecilia M CM; Hartl, Christopher C; Jackson, Anne U AU; Chen, Han H; Huyghe, Jeroen R JR; van de Bunt, Martijn M; Pearson, Richard D RD; Kumar, Ashish A; Müller-Nurasyid, Martina M; Grarup, Niels N; Stringham, Heather M HM; Gamazon, Eric R ER; Lee, Jaehoon J; Chen, Yuhui Y; Scott, Robert A RA; Below, Jennifer E JE; Chen, Peng P; Huang, Jinyan J; Go, Min Jin MJ; Stitzel, Michael L ML; Pasko, Dorota D; Parker, Stephen C J SCJ; Varga, Tibor V TV; Green, Todd T; Beer, Nicola L NL; Day-Williams, Aaron G AG; Ferreira, Teresa T; Fingerlin, Tasha T; Horikoshi, Momoko M; Hu, Cheng C; Huh, Iksoo I; Ikram, Mohammad Kamran MK; Kim, Bong-Jo BJ; Kim, Yongkang Y; Kim, Young Jin YJ; Kwon, Min-Seok MS; Lee, Juyoung J; Lee, Selyeong S; Lin, Keng-Han KH; Maxwell, Taylor J TJ; Nagai, Yoshihiko Y; Wang, Xu X; Welch, Ryan P RP; Yoon, Joon J; Zhang, Weihua W; Barzilai, Nir N; Voight, Benjamin F BF; Han, Bok-Ghee BG; Jenkinson, Christopher P CP; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Manning, Alisa A; Ng, Maggie C Y MCY; Palmer, Nicholette D ND; Balkau, Beverley B; Stančáková, Alena A; Abboud, Hanna E HE; Boeing, Heiner H; Giedraitis, Vilmantas V; Prabhakaran, Dorairaj D; Gottesman, Omri O; Scott, James J; Carey, Jason J; Kwan, Phoenix P; Grant, George G; Smith, Joshua D JD; Neale, Benjamin M BM; Purcell, Shaun S; Butterworth, Adam S AS; Howson, Joanna M M JMM; Lee, Heung Man HM; Lu, Yingchang Y; Kwak, Soo-Heon SH; Zhao, Wei W; Danesh, John J; Lam, Vincent K L VKL; Park, Kyong Soo KS; Saleheen, Danish D; So, Wing Yee WY; Tam, Claudia H T CHT; Afzal, Uzma U; Aguilar, David D; Arya, Rector R; Aung, Tin T; Chan, Edmund E; Navarro, Carmen C; Cheng, Ching-Yu CY; Palli, Domenico D; Correa, Adolfo A; Curran, Joanne E JE; Rybin, Denis D; Farook, Vidya S VS; Fowler, Sharon P SP; Freedman, Barry I BI; Griswold, Michael M; Hale, Daniel Esten DE; Hicks, Pamela J PJ; Khor, Chiea-Chuen CC; Kumar, Satish S; Lehne, Benjamin B; Thuillier, Dorothée D; Lim, Wei Yen WY; Liu, Jianjun J; van der Schouw, Yvonne T YT; Loh, Marie M; Musani, Solomon K SK; Puppala, Sobha S; Scott, William R WR; Yengo, Loïc L; Tan, Sian-Tsung ST; Taylor, Herman A HA; Thameem, Farook F; Wilson, Gregory G; Wong, Tien Yin TY; Njølstad, Pål Rasmus PR; Levy, Jonathan C JC; Mangino, Massimo M; Bonnycastle, Lori L LL; Schwarzmayr, Thomas T; Fadista, João J; Surdulescu, Gabriela L GL; Herder, Christian C; Groves, Christopher J CJ; Wieland, Thomas T; Bork-Jensen, Jette J; Brandslund, Ivan I; Christensen, Cramer C; Koistinen, Heikki A HA; Doney, Alex S F ASF; Kinnunen, Leena L; Esko, Tõnu T; Farmer, Andrew J AJ; Hakaste, Liisa L; Hodgkiss, Dylan D; Kravic, Jasmina J; Lyssenko, Valeriya V; Hollensted, Mette M; Jørgensen, Marit E ME; Jørgensen, Torben T; Ladenvall, Claes C; Justesen, Johanne Marie JM; Käräjämäki, Annemari A; Kriebel, Jennifer J; Rathmann, Wolfgang W; Lannfelt, Lars L; Lauritzen, Torsten T; Narisu, Narisu N; Linneberg, Allan A; Melander, Olle O; Milani, Lili L; Neville, Matt M; Orho-Melander, Marju M; Qi, Lu L; Qi, Qibin Q; Roden, Michael M; Rolandsson, Olov O; Swift, Amy A; Rosengren, Anders H AH; Stirrups, Kathleen K; Wood, Andrew R AR; Mihailov, Evelin E; Blancher, Christine C; Carneiro, Mauricio O MO; Maguire, Jared J; Poplin, Ryan R; Shakir, Khalid K; Fennell, Timothy T; DePristo, Mark M; de Angelis, Martin Hrabé MH; Deloukas, Panos P; Gjesing, Anette P AP; Jun, Goo G; Nilsson, Peter P; Murphy, Jacquelyn J; Onofrio, Robert R; Thorand, Barbara B; Hansen, Torben T; Meisinger, Christa C; Hu, Frank B FB; Isomaa, Bo B; Karpe, Fredrik F; Liang, Liming L; Peters, Annette A; Huth, Cornelia C; O'Rahilly, Stephen P SP; Palmer, Colin N A CNA; Pedersen, Oluf O; Rauramaa, Rainer R; Tuomilehto, Jaakko J; Salomaa, Veikko V; Watanabe, Richard M RM; Syvänen, Ann-Christine AC; Bergman, Richard N RN; Bharadwaj, Dwaipayan D; Bottinger, Erwin P EP; Cho, Yoon Shin YS; Chandak, Giriraj R GR; Chan, Juliana C N JCN; Chia, Kee Seng KS; Daly, Mark J MJ; Ebrahim, Shah B SB; Langenberg, Claudia C; Elliott, Paul P; Jablonski, Kathleen A KA; Lehman, Donna M DM; Jia, Weiping W; Ma, Ronald C W RCW; Pollin, Toni I TI; Sandhu, Manjinder M; Tandon, Nikhil N; Froguel, Philippe P; Barroso, Inês I; Teo, Yik Ying YY; Zeggini, Eleftheria E; Loos, Ruth J F RJF; Small, Kerrin S KS; Ried, Janina S JS; DeFronzo, Ralph A RA; Grallert, Harald H; Glaser, Benjamin B; Metspalu, Andres A; Wareham, Nicholas J NJ; Walker, Mark M; Banks, Eric E; Gieger, Christian C; Ingelsson, Erik E; Im, Hae Kyung HK; Illig, Thomas T; Franks, Paul W PW; Buck, Gemma G; Trakalo, Joseph J; Buck, David D; Prokopenko, Inga I; Mägi, Reedik R; Lind, Lars L; Farjoun, Yossi Y; Owen, Katharine R KR; Gloyn, Anna L AL; Strauch, Konstantin K; Tuomi, Tiinamaija T; Kooner, Jaspal Singh JS; Lee, Jong-Young JY; Park, Taesung T; Donnelly, Peter P; Morris, Andrew D AD; Hattersley, Andrew T AT; Bowden, Donald W DW; Collins, Francis S FS; Atzmon, Gil G; Chambers, John C JC; Spector, Timothy D TD; Laakso, Markku M; Strom, Tim M TM; Bell, Graeme I GI; Blangero, John J; Duggirala, Ravindranath R; Tai, E Shyong ES; McVean, Gilean G; Hanis, Craig L CL; Wilson, James G JG; Seielstad, Mark M; Frayling, Timothy M TM; Meigs, James B JB; Cox, Nancy J NJ; Sladek, Rob R; Lander, Eric S ES; Gabriel, Stacey S; Burtt, Noël P NP; Mohlke, Karen L KL; Meitinger, Thomas T; Groop, Leif L; Abecasis, Goncalo G; Florez, Jose C JC; Scott, Laura J LJ; Morris, Andrew P AP; Kang, Hyun Min HM; Boehnke, Michael M; Altshuler, David D; McCarthy, Mark I MI
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
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
Variants of the HNF1α gene: A molecular approach concerning diabetic patients from southern Brazil.
Genetics And Molecular Biology
Bonatto, Naieli N; Nogaroto, Viviane V; Svidnicki, Paulo V PV; Milléo, Fábio Q FQ; Grassiolli, Sabrina S; Almeida, Mara C MC; Vicari, Marcelo R MR; Artoni, Roberto F RF
Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.
Plos One
Jafar-Mohammadi, Bahram B; Groves, Christopher J CJ; Owen, Katharine R KR; Frayling, Timothy M TM; Hattersley, Andrew T AT; McCarthy, Mark I MI; Gloyn, Anna L AL