Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
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 multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.
Cell Reports. Medicine
Mortlock, Sally S; Corona, Rosario I RI; Kho, Pik Fang PF; Pharoah, Paul P; Seo, Ji-Heui JH; Freedman, Matthew L ML; Gayther, Simon A SA; Siedhoff, Matthew T MT; Rogers, Peter A W PAW; Leuchter, Ronald R; Walsh, Christine S CS; Cass, Ilana I; Karlan, Beth Y BY; Rimel, B J BJ; , ; Montgomery, Grant W GW; Lawrenson, Kate K; Kar, Siddhartha P SP
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.
Journal Of Medical Genetics
Lee, Andrew A; Yang, Xin X; Tyrer, Jonathan J; Gentry-Maharaj, Aleksandra A; Ryan, Andy A; Mavaddat, Nasim N; Cunningham, Alex P AP; Carver, Tim T; Archer, Stephanie S; Leslie, Goska G; Kalsi, Jatinder J; Gaba, Faiza F; Manchanda, Ranjit R; Gayther, Simon S; Ramus, Susan J SJ; Walter, Fiona M FM; Tischkowitz, Marc M; Jacobs, Ian I; Menon, Usha U; Easton, Douglas F DF; Pharoah, Paul P; Antoniou, Antonis C AC
Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis.
International Journal Of Molecular Medicine
Papageorgiou, Louis L; Zervou, Maria I MI; Vlachakis, Dimitrios D; Matalliotakis, Michail M; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Goulielmos, George N GN; Eliopoulos, Elias E
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Tissue specific regulation of transcription in endometrium and association with disease.
Human Reproduction (Oxford, England)
Mortlock, Sally S; Kendarsari, Raden I RI; Fung, Jenny N JN; Gibson, Greg G; Yang, Fei F; Restuadi, Restuadi R; Girling, Jane E JE; Holdsworth-Carson, Sarah J SJ; Teh, Wan Tinn WT; Lukowski, Samuel W SW; Healey, Martin M; Qi, Ting T; Rogers, Peter A W PAW; Yang, Jian J; McKinnon, Brett B; Montgomery, Grant W GW
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
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer.
Nature Communications
Lawrenson, Kate K; Li, Qiyuan Q; Kar, Siddhartha S; Seo, Ji-Heui JH; Tyrer, Jonathan J; Spindler, Tassja J TJ; Lee, Janet J; Chen, Yibu Y; Karst, Alison A; Drapkin, Ronny R; Aben, Katja K H KK; Anton-Culver, Hoda H; Antonenkova, Natalia N; , ; Baker, Helen H; Bandera, Elisa V EV; Bean, Yukie Y; Beckmann, Matthias W MW; Berchuck, Andrew A; Bisogna, Maria M; Bjorge, Line L; Bogdanova, Natalia N; Brinton, Louise A LA; Brooks-Wilson, Angela A; Bruinsma, Fiona F; Butzow, Ralf R; Campbell, Ian G IG; Carty, Karen K; Chang-Claude, Jenny J; Chenevix-Trench, Georgia G; Chen, Anne A; Chen, Zhihua Z; Cook, Linda S LS; Cramer, Daniel W DW; Cunningham, Julie M JM; Cybulski, Cezary C; Dansonka-Mieszkowska, Agnieszka A; Dennis, Joe J; Dicks, Ed E; Doherty, Jennifer A JA; Dörk, Thilo T; du Bois, Andreas A; Dürst, Matthias M; Eccles, Diana D; Easton, Douglas T DT; Edwards, Robert P RP; Eilber, Ursula U; Ekici, Arif B AB; Fasching, Peter A PA; Fridley, Brooke L BL; Gao, Yu-Tang YT; Gentry-Maharaj, Aleksandra A; Giles, Graham G GG; Glasspool, Rosalind R; Goode, Ellen L EL; Goodman, Marc T MT; Grownwald, Jacek J; Harrington, Patricia P; Harter, Philipp P; Hasmad, Hanis Nazihah HN; Hein, Alexander A; Heitz, Florian F; Hildebrandt, Michelle A T MA; Hillemanns, Peter P; Hogdall, Estrid E; Hogdall, Claus C; Hosono, Satoyo S; Iversen, Edwin S ES; Jakubowska, Anna A; James, Paul P; Jensen, Allan A; Ji, Bu-Tian BT; Karlan, Beth Y BY; Kruger Kjaer, Susanne S; Kelemen, Linda E LE; Kellar, Melissa M; Kelley, Joseph L JL; Kiemeney, Lambertus A LA; Krakstad, Camilla C; Kupryjanczyk, Jolanta J; Lambrechts, Diether D; Lambrechts, Sandrina S; Le, Nhu D ND; Lee, Alice W AW; Lele, Shashi S; Leminen, Arto A; Lester, Jenny J; Levine, Douglas A DA; Liang, Dong D; Lissowska, Jolanta J; Lu, Karen K; Lubinski, Jan J; Lundvall, Lene L; Massuger, Leon F A G LF; Matsuo, Keitaro K; McGuire, Valerie V; McLaughlin, John R JR; Nevanlinna, Heli H; McNeish, Ian I; Menon, Usha U; Modugno, Francesmary F; Moysich, Kirsten B KB; Narod, Steven A SA; Nedergaard, Lotte L; Ness, Roberta B RB; Azmi, Mat Adenan Noor MA; Odunsi, Kunle K; Olson, Sara H SH; Orlow, Irene I; Orsulic, Sandra S; Weber, Rachel Palmieri RP; Pearce, Celeste L CL; Pejovic, Tanja T; Pelttari, Liisa M LM; Permuth-Wey, Jennifer J; Phelan, Catherine M CM; Pike, Malcolm C MC; Poole, Elizabeth M EM; Ramus, Susan J SJ; Risch, Harvey A HA; Rosen, Barry B; Rossing, Mary Anne MA; Rothstein, Joseph H JH; Rudolph, Anja A; Runnebaum, Ingo B IB; Rzepecka, Iwona K IK; Salvesen, Helga B HB; Schildkraut, Joellen M JM; Schwaab, Ira I; Sellers, Thomas A TA; Shu, Xiao-Ou XO; Shvetsov, Yurii B YB; Siddiqui, Nadeem N; Sieh, Weiva W; Song, Honglin H; Southey, Melissa C MC; Sucheston, Lara L; Tangen, Ingvild L IL; Teo, Soo-Hwang SH; Terry, Kathryn L KL; Thompson, Pamela J PJ; Timorek, Agnieszka A; Tsai, Ya-Yu YY; Tworoger, Shelley S SS; van Altena, Anne M AM; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Vierkant, Robert A RA; Wang-Gohrke, Shan S; Walsh, Christine C; Wentzensen, Nicolas N; Whittemore, Alice S AS; Wicklund, Kristine G KG; Wilkens, Lynne R LR; Woo, Yin-Ling YL; Wu, Xifeng X; Wu, Anna H AH; Yang, Hannah H; Zheng, Wei W; Ziogas, Argyrios A; Monteiro, Alvaro A; Pharoah, Paul D PD; Gayther, Simon A SA; Freedman, Matthew L ML
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
Modelling mutational landscapes of human cancers in vitro.
Scientific Reports
Olivier, Magali M; Weninger, Annette A; Ardin, Maude M; Huskova, Hana H; Castells, Xavier X; Vallée, Maxime P MP; McKay, James J; Nedelko, Tatiana T; Muehlbauer, Karl-Rudolf KR; Marusawa, Hiroyuki H; Alexander, John J; Hazelwood, Lee L; Byrnes, Graham G; Hollstein, Monica M; Zavadil, Jiri J