Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish
- Creator: Van De Weghe, Julie C. , Rusterholz, Tamara D. S. , Gesemann, Matthias , Goel, Himanshu , Birk, Ohad S. , Alanzi, Talal , Rawashdeh, Rifaat , Khan, Arif O. , University of Washington Center for Mendelian Genomics, , Bamshad, Michael J. , Nickerson, Deborah A. , Neuhauss, Stephen C. F. , Latour, Brooke , Grout, Megan E. , Aldinger, Kimberly A. , Shaheen, Ranad , Dempsey, Jennifer C. , Maddirevula, Sateesh , Cheng, Yong-Han H. , Phelps, Ian G.
- Resource Type: journal article
- Date: 2017
Spinal cord injuries and nerve dependence in prostate cancer
- Creator: Rutledge, Alison , Jobling, Phillip , Walker, Marjorie M. , Denham, Jim W. , Hondermarck, Hubert
- Resource Type: journal article
- Date: 2017
Ca²⁺ oscillations promote APC/C-dependent cyclin B1 degradation during metaphase arrest and completion of meiosis in fertilizing mouse eggs
- Creator: Nixon, Victoria L. , Levasseur, Mark , McDougall, Alex , Jones, Keith T.
- Resource Type: journal article
- Date: 2002
Genome-scale oscillations in DNA methylation during exit from pluripotency
- Creator: Rulands, Steffen , Lee, Heather J. , Kelsey, Gavin , Stegle, Oliver , Simons, Benjamin D. , Reik, Wolf , Clark, Stephen J. , Angermueller, Christof , Smallwood, Sébastien A. , Krueger, Felix , Mohammed, Hisham , Dean, Wendy , Nichols, Jennifer , Rugg-Gunn, Peter
- Resource Type: journal article
- Date: 2018
In Vivo cell fate tracing provides no evidence for mesenchymal to epithelial transition in adult fallopian tube and uterus
- Creator: Ghosh, Arnab , Syed, Shafiq M. , Kumar, Manish , Carpenter, Tyler J. , Teixeira, Jose M. , Houairia, Nathaniel , Negi, Sumedha , Tanwar, Pradeep S.
- Resource Type: journal article
- Date: 2020
A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations
- Creator: Palmer, Elizabeth E. , Kumar, Raman , Oufadem, Myriam , Lalani, Seema R. , Lewis, Andrea M. , Xia, Fan , Tam, Allison , Webster, Richard , Brammah, Susan , Filippini, Francesca , Pollard, John , Spies, Judy , Gordon, Christopher T. , Minoche, Andre E. , Cowley, Mark J. , Risen, Sarah , Powell-Hamilton, Nina N. , Tusi, Jessica E. , Immken, LaDonna , Nagakura, Honey , Bole-Feysot, Christine , Nitschké, Patrick , Garrigue, Alexandrine , Shaw, Marie , de Saint Basile, Geneviève , Kivuva, Emma , Scott, Richard H. , Rendon, Augusto , Munnich, Arnold , Newman, William , Kerr, Bronwyn , Besmond, Claude , Rosenfeld, Jill A. , Amiel, Jeanne , Hubert, Laurence , Field, Michael , Gecz, Jozef , Carroll, Renee , Rio, Marlène , Murray, Lucinda , Leffler, Melanie , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
- Creator: Gusev, Alexander , Lee, S. Hong , Kähler, Anna K. , Hultman, Christina M. , Purcell, Shaun M. , McCarroll, Steven A. , Daly, Mark , Pasaniuc, Bogdan , Sullivan, Patrick F. , Neale, Benjamin M. , Wray, Naomi R. , Raychaudhuri, Soumya , Trynka, Gosia , Price, Alkes L. , Finucane, Hilary , Vilhjálmsson, Bjarni J. , Xu, Han , Zang, Chongzhi , Ripke, Stephan , Bulik-Sullivan, Brendan , Stahl, Eli
- Resource Type: journal article
- Date: 2014
Overexpression of a potato sucrose synthase gene in cotton accelerates leaf expansion, reduces seed abortion, and enhances fiber production
- Creator: Xu, Shou-Min , Brill, Elizabeth , Llewellyn, Danny J. , Furbank, Robert T. , Ruan, Yong-Ling
- Resource Type: journal article
- Date: 2012
Modeling linkage disequilibrium increases accuracy of polygenic risk scores
- Creator: Vilhjálmsson, Bjarni J. , Yang, Jian , Hayeck, Tristan , Won, Hong-Hee , Schizophrenia Working Group of the Psychiatric Genomics Consortium, , Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study, , Finucane, Hilary K. , Gusev, Alexander , Lindström, Sara , Ripke, Stephan , Genovese, Giulio , Loh, Po-Ru , Bhatia, Gaurav , Do, Ron
- Resource Type: journal article
- Date: 2015
Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements
- Creator: Demaerel, Wolfram , Hestand, Matthew S. , Breckpot, Jeroen , Devriendt, Koenraad , Vermeesch, Joris R. , International 22q11.2 Brain and Behavior Consortium, , Campbell, Linda , Vergaelen, Elfi , Swillen, Ann , López-Sánchez, Marcos , Pérez-Jurado, Luis A. , McDonald-McGinn, Donna M. , Zackai, Elaine , Emanuel, Beverly S. , Morrow, Bernice E.
- Resource Type: journal article
- Date: 2017
On regenerating the ovary and generating controversy
- Creator: Telfer, Evelyn E. , Gosden, Roger G. , McLaughlin, Eileen , McLaren, Anne , McNatty, Kenneth , Schatten, Gerald , Silber, Sherman , Tsafriri, Alex , Byskov, Anne Grete , Spears, Norah , Albertini, David , Andersen, Claus Yding , Anderson, Richard , Braw-Tal, Ruth , Clarke, Hugh , Gougeon, Alain
- Resource Type: journal article
- Date: 2005
Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia
- Creator: Kasak, Laura , Punab, Margus , Smith, Lee B. , Conrad, Donald F. , Laan, Maris , Nagirnaja, Liina , Grigorova, Marina , Minajeva, Ave , Lopes, Alexandra M. , Punab, Anna Maria , Aston, Kenneth I. , Carvalho, Filipa , Laasik, Eve
- Resource Type: journal article
- Date: 2018
Lateral hypothalamic GABAergic neurons encode reward predictions that are relayed to the ventral tegmental area to regulate learning
- Creator: Sharpe, Melissa J. , Marchant, Nathan J. , Pickel, James , Smith, Jeffrey C. , Niv, Yael , Shaham, Yavin , Harvey, Brandon K. , Schoenbaum, Geoffrey , Whitaker, Leslie R. , Richie, Christopher T. , Zhang, Yajun J. , Campbell, Erin J. , Koivula, Pyry P. , Necarsulmer, Julie C. , Mejias-Aponte, Carlos , Morales, Marisela
- Resource Type: journal article
- Date: 2017
Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures
- Creator: Petrovski, Slavé , Kury, Sébastien , Besnard, Thomas , Becraft, Emily , Wadley, Alexandrea , Politi, Anya Revah , Colombo, Sophie , Zhu, Xiaolin , Ren, Zhong , Andrews, Ian , Dudding-Byth, Tracy , Schneider, Amy L. , Myers, Candace T. , Anyane-Yeboa, Kwame , Cogné, Benjamin , Bialer, Martin , Xia, Fan , Hemati, Parisa , Riviello, James , Mehaffey, Michele
- Resource Type: journal article
- Date: 2016
Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS
- Creator: Rafehi, Haloom , Szmulewicz, David J. , Barcina, Maria Garcia , Breen, David P. , Chancellor, Andrew M. , Cremer, Phillip D. , Delatycki, Martin B. , Fogel, Brent L. , Hackett, Anna , Halmagyi, G. Michael , Kapetanovic, Solange , Lang, Anthony , Bennett, Mark F. , Mossman, Stuart , Mu, Weiyi , Patrikios, Peter , Perlman, Susan L. , Rosemergy, Ian , Storey, Elsdon , Watson, Shaun R. D. , Wilson, Michael A. , Zee, David S. , Valle, David , Sobreira, Nara L. M. , Amor, David J. , Bahlo, Melanie , Lockhart, Paul J. , Pope, Kate , Smith, Katherine R. , Gillies, Greta , Diakumis, Peter , Dolzhenko, Egor , Eberle, Michael A.
- Resource Type: journal article
- Date: 2019
Amygdala NPY circuits promote the development of accelerated obesity under chronic stress conditions
- Creator: Ip, Chi K. , Zhang, Lei , Begg, Denovan , Brüning, Jens C. , Lee, Nicola J. , Hernandez-Sanchez, Diana , Gopalasingam, Gopana , Koller, Julia , Tasan, Ramon , Sperk, Günther , Herzog, Herbert , Farzi, Aitak , Qi, Yue , Clarke, Ireni , Reed, Felicia , Shi, Yan-Chuan , Enriquez, Ronaldo , Dayas, Chris , Graham, Bret
- Resource Type: journal article
- Date: 2019
An immune atlas of clear cell renal cell carcinoma
- Creator: Chevrier, Stephane , Levine, Jacob Harrison , van den Broek, Maries , Beisel, Christian , Stadler, Michael Beda , Gedye, Craig , Reis, Bernhard , Pe'er, Dana , Bodenmiller, Bernd , Zanotelli, Vito Riccardo Tomaso , Silina, Karina , Schulz, Daniel , Bacac, Marina , Ries, Carola Hermine , Ailles, Laurie , Jewett, Michael Alexander Spencer , Moch, Holger
- Resource Type: journal article
- Date: 2017
Rapid coral decay is associated with marine heatwave mortality events on reefs
- Creator: Leggat, William P. , Camp, Emma F. , Eakin, C. Mark , Ainsworth, Tracy D. , Suggett, David J. , Heron, Scott F. , Fordyce, Alexander J. , Gardner, Stephanie , Deakin, Lachlan , Turner, Michael , Beeching, Levi J. , Kuzhiumparambil, Unnikrishnan
- Resource Type: journal article
- Date: 2019
Stop press: eosinophils drafted to join the Th17 team
- Creator: Keely, Simon , Foster, Paul S.
- Resource Type: journal article
- Date: 2015
Polymorphisms in a putative enhancer at the 10q21.2 breast cancer risk locus regulate NRBF2 expression
- Creator: Darabi, Hatef , McCue, Karen , Dennis, Joe , Cox, A. , Cross, S. S. , Luben, R. , Khaw, K.-T. , Choi, J.-Y. , Kang, D. , Hartman, M. , Lim, W. Y. , Kabisch, M. , Torres, D. , Wang, Qin , Jakubowska, A. , Lubinski, J. , McKay, J. , Sangrajrang, S. , Toland, A. E. , Yannoukakos, D. , Shen, C.-Y. , Yu, J.-C. , Ziogas, A. , Schoemaker, M. J. , Canisius, Sander , Swerdlow, A. , Borresen-Dale, A.-L. , Kristensen, V. , French, J. D. , Edwards, S. L. , Dunning, A. M. , Easton, D. F. , Hall, P. , Chenevix-Trench, G. , Scott, Christopher G. , Apicella, Carmel , Hopper, John L. , Southey, Melissa C. , Stone, Jennifer , Broeks, Annegien , Schmidt, Marjanka K. , Beesley, Jonathan , Scott, Rodney J. , Lophatananon, Artitaya , Muir, Kenneth , Beckmann, Matthias W. , Ekici, Arif B. , Fasching, Peter A. , Heusinger, Katharina , dos-Santos-Silva, Isabel , Peto, Julian , Tomlinson, Ian , Michailidou, Kyriaki , Sawyer, Elinor J. , Burwinkel, Barbara , Marme, Frederik , Guénel, Pascal , Truong, Thérèse , Bojesen, Stig E. , Flyger, Henrik , Benitez, Javier , González-Neira, Anna , Anton-Culver, Hoda , Nord, Silje , Neuhausen, Susan L. , Arndt, Volker , Brenner, Hermann , Engel, Christoph , Meindl, Alfons , Schmutzler, Rita K. , Arnold, Norbert , Brauch, Hiltrud , Hamann, Ute , Chang-Claude, Jenny , Kar, Siddhartha , Khan, Sofia , Nevanlinna, Heli , Ito, Hidemi , Matsuo, Keitaro , Bogdanova, Natalia V. , Dörk, Thilo , Lindblom, Annika , Margolin, Sara , Kosma, Veli-Matti , Mannermaa, Arto , Humphreys, Keith , Tseng, Chiu-chen , Wu, Anna H. , Floris, Giuseppe , Lambrechts, Diether , Rudolph, Anja , Peterlongo, Paolo , Radice, Paolo , Couch, F. J. , Vachon, C. , Giles, G. G. , Thompson, Deborah , McLean, C. , Milne, R. L. , Dugué, P.-A. , Haiman, C. A. , Maskarinec, G. , Woolcott, C. , Henderson, B. E. , Goldberg, M. S. , Simard, J. , Teo, S. H. , Ghoussaini, Maya , Mariapun, S. , Helland, A. , Haakensen, V. , Zheng, W. , Beeghly-Fadiel, A. , Tamimi, R. , Jukkola-Vuorinen, A. , Winqvist, R. , Andrulis, I. L. , Knight, J. A. , Bolla, Manjeet K. , Devilee, P. , Tollenaar, R. A. E. M. , Figueroa, J. , García-Closas, M. , Czene, K. , Hooning, M. J. , Tilanus-Linthorst, M. , Li, J. , Gao, Y.-T. , Shu, X.-O.
- Resource Type: journal article
- Date: 2015