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Fiona Cunningham
university of melbourne
60H-index
248Paper Count
7.9WCitation Count
Published Papers 63
Publication Date
- Publication Date
- Impact Factor
- Citations
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
GENETICS IN MEDICINE
2024-02-01
3
OAAI
Roberts, Angharad M.; DiStefano, Marina T.; Riggs, Erin Rooney; Josephs, Katherine S.; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S.; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen, V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L.; McDonagh, Ellen M.; Perrett, Daniel; Ramos, Erin M.; Robinson, Peter N.; Rath, Ana; Sant, David W.; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L.; Ware, James S.
IF6.2
Ensembl 2024
NUCLEIC ACIDS RESEARCH
2023-11-11
83
OAAI
Harrison, Peter W.; Amode, M. Ridwan; Austine-Orimoloye, Olanrewaju; Azov, Andrey G.; Barba, Matthieu; Barnes, If; Becker, Arne; Bennett, Ruth; Berry, Andrew; Bhai, Jyothish; Bhurji, Simarpreet Kaur; Boddu, Sanjay; Lins, Paulo R. Branco; Brooks, Lucy; Ramaraju, Shashank Budhanuru; Campbell, Lahcen, I; Martinez, Manuel Carbajo; Charkhchi, Mehrnaz; Chougule, Kapeel; Cockburn, Alexander; Davidson, Claire; De Silva, Nishadi H.; Dodiya, Kamalkumar; Donaldson, Sarah; El Houdaigui, Bilal; El Naboulsi, Tamara; Fatima, Reham; Giron, Carlos Garcia; Genez, Thiago; Grigoriadis, Dionysios; Ghattaoraya, Gurpreet S.; Martinez, Jose Gonzalez; Gurbich, Tatiana A.; Hardy, Matthew; Hollis, Zoe; Hourlier, Thibaut; Hunt, Toby; Kay, Mike; Kaykala, Vinay; Le, Tuan; Lemos, Diana; Lodha, Disha; Marques-Coelho, Diego; Maslen, Gareth; Merino, Gabriela Alejandra; Mirabueno, Louisse Paola; Mushtaq, Aleena; Hossain, Syed Nakib; Ogeh, Denye N.; Sakthivel, Manoj Pandian; Parker, Anne; Perry, Malcolm; Pilizota, Ivana; Poppleton, Daniel; Prosovetskaia, Irina; Raj, Shriya; Perez-Silva, Jose G.; Salam, Ahamed Imran Abdul; Saraf, Shradha; Saraiva-Agostinho, Nuno; Sheppard, Dan; Sinha, Swati; Sipos, Botond; Sitnik, Vasily; Stark, William; Steed, Emily; Suner, Marie-Marthe; Surapaneni, Likhitha; Sutinen, Kyosti; Tricomi, Francesca Floriana; Urbina-Gomez, David; Veidenberg, Andres; Walsh, Thomas A.; Ware, Doreen; Wass, Elizabeth; Willhoft, Natalie L.; Allen, Jamie; Alvarez-Jarreta, Jorge; Chakiachvili, Marc; Flint, Bethany; Giorgetti, Stefano; Haggerty, Leanne; Ilsley, Garth R.; Keatley, Jon; Loveland, Jane E.; Moore, Benjamin; Mudge, Jonathan M.; Naamati, Guy; Tate, John; Trevanion, Stephen J.; Winterbottom, Andrea; Frankish, Adam; Hunt, Sarah E.; Cunningham, Fiona; Dyer, Sarah; Finn, Robert D.; Martin, Fergal J.; Yates, Andrew D.
IF13.1
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
2023-01-20
4
OAAI
Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Black, Graeme C.; Ellingford, Jamie M.
GENCODE: reference annotation for the human and mouse genomes in 2023
NUCLEIC ACIDS RESEARCH
2022-11-24
89
OAAI
Frankish, Adam; Carbonell-Sala, Silvia; Diekhans, Mark; Jungreis, Irwin; Loveland, Jane E.; Mudge, Jonathan M.; Sisu, Cristina; Wright, James C.; Arnan, Carme; Barnes, If; Banerjee, Abhimanyu; Bennett, Ruth; Berry, Andrew; Bignell, Alexandra; Boix, Carles; Calvet, Ferriol; Cerdan-Velez, Daniel; Cunningham, Fiona; Davidson, Claire; Donaldson, Sarah; Dursun, Cagatay; Fatima, Reham; Giorgetti, Stefano; Giron, Carlos Garcia; Gonzalez, Jose Manuel; Hardy, Matthew; Harrison, Peter W.; Hourlier, Thibaut; Hollis, Zoe; Hunt, Toby; James, Benjamin; Jiang, Yunzhe; Johnson, Rory; Kay, Mike; Lagarde, Julien; Martin, Fergal J.; Gomez, Laura Martinez; Nair, Surag; Ni, Pengyu; Pozo, Fernando; Ramalingam, Vivek; Ruffier, Magali; Schmitt, Bianca M.; Schreiber, Jacob M.; Steed, Emily; Suner, Marie-Marthe; Sumathipala, Dulika; Sycheva, Irina; Uszczynska-Ratajczak, Barbara; Wass, Elizabeth; Yang, Yucheng T.; Yates, Andrew; Zafrulla, Zahoor; Choudhary, Jyoti S.; Gerstein, Mark; Guigo, Roderic; Hubbard, Tim J. P.; Kellis, Manolis; Kundaje, Anshul; Paten, Benedict; Tress, Michael L.; Flicek, Paul
IF13.1
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
NUCLEIC ACIDS RESEARCH
2022-11-09
510
OAAI
Sollis, Elliot; Mosaku, Abayomi; Abid, Ala; Buniello, Annalisa; Cerezo, Maria; Gil, Laurent; Groza, Tudor; Gunes, Osman; Hall, Peggy; Hayhurst, James; Ibrahim, Arwa; Ji, Yue; John, Sajo; Lewis, Elizabeth; MacArthur, Jacqueline A. L.; McMahon, Aoife; Osumi-Sutherland, David; Panoutsopoulou, Kalliope; Pendlington, Zoe; Ramachandran, Santhi; Stefancsik, Ray; Stewart, Jonathan; Whetzel, Patricia; Wilson, Robert; Hindorff, Lucia; Cunningham, Fiona; Lambert, Samuel A.; Inouye, Michael; Parkinson, Helen; Harris, Laura W.
IF13.1
Ensembl 2023
NUCLEIC ACIDS RESEARCH
2022-11-01
378
OAAI
Martin, Fergal J.; Amode, M. Ridwan; Aneja, Alisha; Austine-Orimoloye, Olanrewaju; Azov, Andrey G.; Barnes, If; Becker, Arne; Bennett, Ruth; Berry, Andrew; Bhai, Jyothish; Bhurji, Simarpreet Kaur; Bignell, Alexandra; Boddu, Sanjay; Lins, Paulo R. Branco; Brooks, Lucy; Ramaraju, Shashank Budhanuru; Charkhchi, Mehrnaz; Cockburn, Alexander; Fiorretto, Luca Da Rin; Davidson, Claire; Dodiya, Kamalkumar; Donaldson, Sarah; El Houdaigui, Bilal; El Naboulsi, Tamara; Fatima, Reham; Giron, Carlos Garcia; Genez, Thiago; Ghattaoraya, Gurpreet S.; Martinez, Jose Gonzalez; Guijarro, Cristi; Hardy, Matthew; Hollis, Zoe; Hourlier, Thibaut; Hunt, Toby; Kay, Mike; Kaykala, Vinay; Le, Tuan; Lemos, Diana; Marques-Coelho, Diego; Marugan, Jose Carlos; Merino, Gabriela Alejandra; Mirabueno, Louisse Paola; Mushtaq, Aleena; Hossain, Syed Nakib; Ogeh, Denye N.; Sakthivel, Manoj Pandian; Parker, Anne; Perry, Malcolm; Pilizota, Ivana; Prosovetskaia, Irina; Perez-Silva, Jose G.; Salam, Ahamed Imran Abdul; Saraiva-Agostinho, Nuno; Schuilenburg, Helen; Sheppard, Dan; Sinha, Swati; Sipos, Botond; Stark, William; Steed, Emily; Sukumaran, Ranjit; Sumathipala, Dulika; Suner, Marie-Marthe; Surapaneni, Likhitha; Sutinen, Kyosti; Szpak, Michal; Tricomi, Francesca Floriana; Urbina-Gomez, David; Veidenberg, Andres; Walsh, Thomas A.; Walts, Brandon; Wass, Elizabeth; Willhoft, Natalie; Allen, Jamie; Alvarez-Jarreta, Jorge; Chakiachvili, Marc; Flint, Bethany; Giorgetti, Stefano; Haggerty, Leanne; Ilsley, Garth R.; Loveland, Jane E.; Moore, Benjamin; Mudge, Jonathan M.; Tate, John; Thybert, David; Trevanion, Stephen J.; Winterbottom, Andrea; Frankish, Adam; Hunt, Sarah E.; Ruffier, Magali; Cunningham, Fiona; Dyer, Sarah; Finn, Robert D.; Howe, Kevin L.; Harrison, Peter W.; Yates, Andrew D.; Flicek, Paul
IF13.1
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
GENETICS IN MEDICINE
2022-08-01
70
OAAI
DiStefano, Marina T.; Goehringer, Scott; Babb, Lawrence; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Austin-Tse, Christina; Balzotti, Marie; Berg, Jonathan S.; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth A.; Coffey, Alison J.; Collins, Heather; Cunningham, Fiona; Daugherty, Louise C.; Einhorn, Yaron; Firth, Helen, V; Fitzpatrick, David R.; Foulger, Rebecca E.; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew R.; Leigh, Sarah E.; Leong, Ivone U. S.; Maddirevula, Sateesh; Martin, Christa L.; McDonagh, Ellen M.; Olry, Annie; Puzriakova, Arina; Radtke, Kelly; Ramos, Erin M.; Rath, Ana; Riggs, Erin Rooney; Roberts, Angharad M.; Rodwell, Charlotte; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Tweedie, Susan; Ware, James S.; Weller, Phillip; Williams, Eleanor; Wright, Caroline F.; Yates, Thabo Michael; Rehm, Heidi L.
IF6.2
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research
HUMAN MUTATION
2022-02-21
18
OAAI
Foreman, Julia; Brent, Simon; Perrett, Daniel; Bevan, Andrew P.; Hunt, Sarah E.; Cunningham, Fiona; Hurles, Matthew E.; Firth, Helen, V
IF3.7
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial
HUMAN MUTATION
2021-12-02
37
OAAI
Hunt, Sarah E.; Moore, Benjamin; Amode, Ridwan M.; Armean, Irina M.; Lemos, Diana; Mushtaq, Aleena; Parton, Andrew; Schuilenburg, Helen; Szpak, Michal; Thormann, Anja; Perry, Emily; Trevanion, Stephen J.; Flicek, Paul; Yates, Andrew D.; Cunningham, Fiona
IF3.7
Ensembl 2022
NUCLEIC ACIDS RESEARCH
2021-11-17
1.1K
OAAI
Cunningham, Fiona; Allen, James E.; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Austine-Orimoloye, Olanrewaju; Azov, Andrey G.; Barnes, If; Bennett, Ruth; Berry, Andrew; Bhai, Jyothish; Bignell, Alexandra; Billis, Konstantinos; Boddu, Sanjay; Brooks, Lucy; Charkhchi, Mehrnaz; Cummins, Carla; Fioretto, Luca Da Rin; Davidson, Claire; Dodiya, Kamalkumar; Donaldson, Sarah; El Houdaigui, Bilal; El Naboulsi, Tamara; Fatima, Reham; Giron, Carlos Garcia; Genez, Thiago; Martinez, Jose Gonzalez; Guijarro-Clarke, Cristina; Gymer, Arthur; Hardy, Matthew; Hollis, Zoe; Hourlier, Thibaut; Hunt, Toby; Juettemann, Thomas; Kaikala, Vinay; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Marugan, Jose Carlos; Mohanan, Shamika; Mushtaq, Aleena; Naven, Marc; Ogeh, Denye N.; Parker, Anne; Parton, Andrew; Perry, Malcolm; Pilizota, Ivana; Prosovetskaia, Irina; Sakthivel, Manoj Pandian; Salam, Ahamed Imran Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, Dan; Perez-Silva, Jose G.; Stark, William; Steed, Emily; Sutinen, Kyosti; Sukumaran, Ranjit; Sumathipala, Dulika; Suner, Marie-Marthe; Szpak, Michal; Thormann, Anja; Tricomi, Francesca Floriana; Urbina-Gomez, David; Veidenberg, Andres; Walsh, Thomas A.; Walts, Brandon; Willhoft, Natalie; Winterbottom, Andrea; Wass, Elizabeth; Chakiachvili, Marc; Flint, Bethany; Frankish, Adam; Giorgetti, Stefano; Haggerty, Leanne; Hunt, Sarah E.; IIsley, Garth R.; Loveland, Jane E.; Martin, Fergal J.; Moore, Benjamin; Mudge, Jonathan M.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Tate, John; Thybert, David; Trevanion, Stephen J.; Dyer, Sarah; Harrison, Peter W.; Howe, Kevin L.; Yates, Andrew D.; Zerbino, Daniel R.; Flicek, Paul
IF13.1
GA4GH: International policies and standards for data sharing across genomic research and healthcare
2021-11-01
96
OAAI
Rehm, Heidi L.; Page, Angela J. H.; Smith, Lindsay; Adams, Jeremy B.; Alterovitz, Gil; Babb, Lawrence J.; Barkley, Maxmillian P.; Baudis, Michael; Beauvais, Michael J. S.; Beck, Tim; Beckmann, Jacques S.; Beltran, Sergi; Bernick, David; Bernier, Alexander; Bonfield, James K.; Boughtwood, Tiffany F.; Bourque, Guillaume; Bowers, Sarion R.; Brookes, Anthony J.; Brudno, Michael; Brush, Matthew H.; Bujold, David; Burdett, Tony; Buske, Orion J.; Cabili, Moran N.; Cameron, Daniel L.; Carroll, Robert J.; Casas-Silva, Esmeralda; Chakravarty, Debyani; Chaudhari, Bimal P.; Chen, Shu Hui; Cherry, J. Michael; Chung, Justina; Cline, Melissa; Clissold, Hayley L.; Cook-Deegan, Robert M.; Courtot, Melanie; Cunningham, Fiona; Cupak, Miro; Davies, Robert M.; Denisko, Danielle; Doerr, Megan J.; Dolman, Lena I.; Dove, Edward S.; Dursi, L. Jonathan; Dyke, Stephanie O. M.; Eddy, James A.; Eilbeck, Karen; Ellrott, Kyle P.; Fairley, Susan; Fakhro, Khalid A.; Firth, Helen V.; Fitzsimons, Michael S.; Fiume, Marc; Flicek, Paul; Fore, Ian M.; Freeberg, Mallory A.; Freimuth, Robert R.; Fromont, Lauren A.; Fuerth, Jonathan; Gaff, Clara L.; Gan, Weiniu; Ghanaim, Elena M.; Glazer, David; Green, Robert C.; Griffith, Malachi; Griffith, Obi L.; Grossman, Robert L.; Groza, Tudor; Auvil, Jaime M. Guidry; Guigo, Roderic; Gupta, Dipayan; Haendel, Melissa A.; Hamosh, Ada; Hansen, David P.; Hart, Reece K.; Hartley, Dean Mitchell; Haussler, David; Hendricks-Sturrup, Rachele M.; Ho, Calvin W. L.; Hobb, Ashley E.; Hoffman, Michael M.; Hofmann, Oliver M.; Holub, Petr; Hsu, Jacob Shujui; Hubaux, Jean-Pierre; Hunt, Sarah E.; Husami, Ammar; Jacobsen, Julius O.; Jamuar, Saumya S.; Janes, Elizabeth L.; Jeanson, Francis; Jene, Aina; Johns, Amber L.; Joly, Yann; Jones, Steven J. M.; Kanitz, Alexander; Kato, Kazuto; Keane, Thomas M.; Kekesi-Lafrance, Kristina; Kelleher, Jerome; Kerry, Giselle; Khor, Seik-Soon; Knoppers, Bartha M.; Konopko, Melissa A.; Kosaki, Kenjiro; Kuba, Martin; Lawson, Jonathan; Leinonen, Rasko; Li, Stephanie; Lin, Michael F.; Linden, Mikael; Liu, Xianglin; Liyanage, Isuru Udara; Lopez, Javier; Lucassen, Anneke M.; Lukowski, Michael; Mann, Alice L.; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J.; Molnar-Gabor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C.; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H.; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyronen, Tommi H.; O'Connor, Brian D.; Oesterle, Sabine; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura A. D.; Palumbo, Emilio; Parkinson, Helen E.; Philippakis, Anthony A.; Pizarro, Angel D.; Prlic, Andreas; Rambla, Jordi; Rendon, Augusto; Rider, Renee A.; Robinson, Peter N.; Rodarmer, Kurt W.; Rodriguez, Laura Lyman; Rubin, Alan F.; Rueda, Manuel; Rushton, Gregory A.; Ryan, Rosalyn S.; Saunders, Gary I.; Schuilenburg, Helen; Schwede, Torsten; Scollen, Serena; Senf, Alexander; Sheffield, Nathan C.; Skantharajah, Neerjah; Smith, Albert V.; Sofia, Heidi J.; Spalding, Dylan; Spurdle, Amanda B.; Stark, Zornitza; Stein, Lincoln D.; Suematsu, Makoto; Tan, Patrick; Tedds, Jonathan A.; Thomson, Alastair A.; Thorogood, Adrian; Tickle, Timothy L.; Tokunaga, Katsushi; Tomroos, Juha; Torrents, David; Upchurch, Sean; Valencia, Alfonso; Guimera, Roman Valls; Vamathevan, Jessica; Varma, Susheel; Vears, Danya F.; Viner, Coby; Voisin, Craig; Wagner, Alex H.; Wallace, Susan E.; Walsh, Brian P.; Williams, Marc S.; Winkler, Eva C.; Wold, Barbara J.; Wood, Grant M.; Woolley, J. Patrick; Yamasaki, Chisato; Yates, Andrew D.; Yung, Christina K.; Zass, Lyndon J.; Zaytseva, Ksenia; Zhang, Junjun; Goodhand, Peter; North, Kathryn; Birney, Ewan
The European Variation Archive: a FAIR resource of genomic variation for all species
NUCLEIC ACIDS RESEARCH
2021-10-28
65
OAAI
Cezard, Timothe; Cunningham, Fiona; Hunt, Sarah E.; Koylass, Baron; Kumar, Nitin; Saunders, Gary; Shen, April; Silva, Andres F.; Tsukanov, Kirill; Venkataraman, Sundararaman; Flicek, Paul; Parkinson, Helen; Keane, Thomas M.
IF13.1
GENCODE 2021
NUCLEIC ACIDS RESEARCH
2020-12-03
647
OAAI
Frankish, Adam; Diekhans, Mark; Jungreis, Irwin; Lagarde, Julien; Loveland, Jane E.; Mudge, Jonathan M.; Sisu, Cristina; Wright, James C.; Armstrong, Joel; Barnes, If; Berry, Andrew; Bignell, Alexandra; Boix, Carles; Carbonell Sala, Silvia; Cunningham, Fiona; Di Domenico, Tomas; Donaldson, Sarah; Fiddes, Ian T.; Giron, Carlos Garcia; Gonzalez, Jose Manuel; Grego, Tiago; Hardy, Matthew; Hourlier, Thibaut; Howe, Kevin L.; Hunt, Toby; Izuogu, Osagie G.; Johnson, Rory; Martin, Fergal J.; Martinez, Laura; Mohanan, Shamika; Muir, Paul; Navarro, Fabio C. P.; Parker, Anne; Pei, Baikang; Pozo, Fernando; Riera, Ferriol Calvet; Ruffier, Magali; Schmitt, Bianca M.; Stapleton, Eloise; Suner, Marie-Marthe; Sycheva, Irina; Uszczynska-Ratajczak, Barbara; Wolf, Maxim Y.; Xu, Jinuri; Yang, Yucheng T.; Yates, Andrew; Zerbino, Daniel; Zhang, Yan; Choudhary, Jyoti S.; Gerstein, Mark; Guigo, Roderic; Hubbard, Tim J. P.; Kellis, Manolis; Paten, Benedict; Tress, Michael L.; Flicek, Paul
IF13.1
Ensembl 2021
NUCLEIC ACIDS RESEARCH
2020-11-02
1.1K
OAAI
Howe, Kevin L.; Achuthan, Premanand; Allen, James; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Azov, Andrey G.; Bennett, Ruth; Bhai, Jyothish; Billis, Konstantinos; Boddu, Sanjay; Charkhchi, Mehrnaz; Cummins, Carla; Fioretto, Luca Rin; Davidson, Claire; Dodiya, Kamalkumar; El Houdaigui, Bilal; Fatima, Reham; Gall, Astrid; Giron, Carlos Garcia; Grego, Tiago; Guijarro-Clarke, Cristina; Haggerty, Leanne; Hemrom, Anmol; Hourlier, Thibaut; Izuogu, Osagie G.; Juettemann, Thomas; Kaikala, Vinay; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Martinez, Jose Gonzalez; Marugan, Jose Carlos; Maurel, Thomas; McMahon, Aoife C.; Mohanan, Shamika; Moore, Benjamin; Muffato, Matthieu; Oheh, Denye N.; Paraschas, Dimitrios; Parker, Anne; Parton, Andrew; Prosovetskaia, Irina; Sakthivel, Manoj P.; Salam, Ahamed I. Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, N.; Steed, Emily; Szpak, Michal; Szuba, Marek; Taylor, Kieron; Thormann, Anja; Threadgold, Glen; Walts, Brandon; Winterbottom, Andrea; Chakiachvili, Marc; Chaubal, Ameya; De Silva, Nishadi; Flint, Bethany; Frankish, Adam; Hunt, Sarah E.; IIsley, Garth R.; Langridge, Nick; Loveland, Jane E.; Martin, Fergal J.; Mudge, Jonathan M.; Morales, Joanella; Perry, Emily; Ruffier, Magali; Tate, John; Thybert, David; Trevanion, Stephen J.; Cunningham, Fiona; Yates, Andrew D.; Zerbino, Daniel R.; Flicek, Paul
IF13.1
Molecular mechanism of TMEM16A regulation: role of CaMKII and PP1/PP2A
2019-12-01
17
OAAI
Ayon, Ramon J.; Hawn, Matthew B.; Aoun, Joydeep; Wiwchar, Michael; Forrest, Abigail S.; Cunningham, Fiona; Singer, Cherie A.; Valencik, Maria L.; Greenwood, Iain A.; Leblanc, Normand
Ensembl 2020
NUCLEIC ACIDS RESEARCH
2019-11-06
1.2K
OAAI
Yates, Andrew D.; Achuthan, Premanand; Akanni, Wasiu; Allen, James; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Azov, Andrey G.; Bennett, Ruth; Bhai, Jyothish; Billis, Konstantinos; Boddu, Sanjay; Marugan, Jose Carlos; Cummins, Carla; Davidson, Claire; Dodiya, Kamalkumar; Fatima, Reham; Gall, Astrid; Giron, Carlos Garcia; Gil, Laurent; Grego, Tiago; Haggerty, Leanne; Haskell, Erin; Hourlier, Thibaut; Izuogu, Osagie G.; Janacek, Sophie H.; Juettemann, Thomas; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Martinez, Jose Gonzalez; Maurel, Thomas; McDowall, Mark; McMahon, Aoife; Mohanan, Shamika; Moore, Benjamin; Nuhn, Michael; Oheh, Denye N.; Parker, Anne; Parton, Andrew; Patricio, Mateus; Sakthivel, Manoj Pandian; Salam, Ahamed Imran Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, Dan; Sycheva, Mira; Szuba, Marek; Taylor, Kieron; Thormann, Anja; Threadgold, Glen; Vullo, Alessandro; Walts, Brandon; Winterbottom, Andrea; Zadissa, Amonida; Chakiachvili, Marc; Flint, Bethany; Frankish, Adam; Hunt, Sarah E.; Ilsley, Garth; Kostadima, Myrto; Langridge, Nick; Loveland, Jane E.; Martin, Fergal J.; Morales, Joannella; Mudge, Jonathan M.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Trevanion, Stephen J.; Cunningham, Fiona; Howe, Kevin L.; Zerbino, Daniel R.; Flicek, Paul
IF13.1
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (vol 21, pg 837, 2019)
GENETICS IN MEDICINE
2019-08-01
3
OAAI
Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Benedicte; Dubourg, Christele; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stephanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hancarova, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthova, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalova, Darina; Putoux, Audrey; Quelin, Chloe; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Sterbova, Katalin; Vyhnalkova, Emilie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Heron, Delphine; Koeleman, Bobby; Moller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel
IF6.2
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
NATURE COMMUNICATIONS
2019-05-30
73
OAAI
Thormann, Anja; Halachev, Mihail; McLaren, William; Moore, David J.; Svinti, Victoria; Campbell, Archie; Kerr, Shona M.; Tischkowitz, Marc; Hunt, Sarah E.; Dunlop, Malcolm G.; Hurles, Matthew E.; Wright, Caroline F.; Firth, Helen V.; Cunningham, Fiona; FitzPatrick, David R.
IF15.7
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
GENETICS IN MEDICINE
2019-04-01
51
OAAI
Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Benedicte; Dubourg, Christele; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stephanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hancarova, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthova, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalova, Darina; Putoux, Audrey; Quelin, Chloe; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Sterbova, Katalin; Vyhnalkova, Emilie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Heron, Delphine; Koeleman, Bobby; Moller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel
IF6.2
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
NATURE COMMUNICATIONS
2019-03-08
79
OAAI
Tziotzios, Christos; Petridis, Christos; Dand, Nick; Ainali, Chrysanthi; Saklatvala, Jake R.; Pullabhatla, Venu; Onoufriadis, Alexandros; Pramanik, Rashida; Baudry, David; Lee, Sang Hyuck; Wood, Kristie; Liu, Lu; Seegobin, Seth; Michelotti, Gregory A.; Lwin, Su M.; Christou, Evangelos A. A.; Curtis, Charles J.; de Rinaldis, Emanuele; Saxena, Alka; Holmes, Susan; Harries, Matthew; Palamaras, Ioulios; Cunningham, Fiona; Parkins, Gregory; Kaur, Manjit; Farrant, Paul; McDonagh, Andrew; Messenger, Andrew; Jones, Jennifer; Jolliffe, Victoria; Ali, Iaisha; Ardern-Jones, Michael; Mitchell, Charles; Burrows, Nigel; Atkar, Ravinder; Banfield, Cedric; Alexandroff, Anton; Champagne, Caroline; Cooper, Hywel L.; Vano-Galvan, Sergio; Maria Molina-Ruiz, Ana; Ormaechea Perez, Nerea; Patel, Girish K.; Macbeth, Abby; Page, Melanie; Bryden, Alyson; Mowbray, Megan; Wahie, Shyamal; Armstrong, Keith; Cooke, Nicola; Goodfield, Mark; Man, Irene; de Berker, David; Dunnill, Giles; Takwale, Anita; Rao, Archana; Siah, Tee-Wei; Sinclair, Rodney; Wade, Martin S.; Dlova, Ncoza C.; Setterfield, Jane; Lewis, Fiona; Bhargava, Kapil; Kirkpatrick, Niall; Estivill, Xavier; Stefanato, Catherine M.; Flohr, Carsten; Spector, Timothy; Watt, Fiona M.; Smith, Catherine H.; Barker, Jonathan N.; Fenton, David A.; Simpson, Michael A.; McGrath, John A.
IF15.7
Research Directions
No research directions

