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1
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
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Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

Mulligan, Lois M ; Eng, Charis ; Healey, Catherine S ; Clayton, David ; Kwok, John B.J ; Gardner, Emily ; Ponder, Margaret A ; Frilling, Andrea ; Jackson, Charles E ; Lehnert, Hendrik ; Neumann, Hartmut P.H ; Thibodeau, Stephen N ; Ponder, Bruce A.J

Nature genetics, 1994-01, Vol.6 (1), p.70-74 [Periódico revisado por pares]

London: Nature Publishing Group

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2
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability
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A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability

Healey, Catherine S ; Dunning, Alison M ; Dawn Teare, M ; Chase, Diana ; Parker, Louise ; Burn, John ; Chang-Claude, Jenny ; Mannermaa, Arto ; Kataja, Vesa ; Huntsman, David G ; Pharoah, Paul D.P ; Luben, Robert N ; Easton, Douglas F ; Ponder, Bruce A.J

Nature genetics, 2000-11, Vol.26 (3), p.362-364 [Periódico revisado por pares]

London: Nature Publishing Group

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3
A polymorphic stop codon in BRCA2
A polymorphic stop codon in BRCA2
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A polymorphic stop codon in BRCA2

Stratton, Michael R ; Goldgar, David E ; Lynch, Henry T ; Mangion, Jonathan ; Lenoir, Gilbert M ; Serova, Olga ; Ponder, Bruce A. J ; Dunning, Alison M ; Dearden, Joanna ; Puget, Nadine ; Gayther, Simon A ; Mazoyer, Sylvie ; Healey, Catherine S

Nature genetics, 1996-11, Vol.14 (3), p.253-254 [Periódico revisado por pares]

United States

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4
Genome-wide association study identifies a common variant associated with risk of endometrial cancer
Genome-wide association study identifies a common variant associated with risk of endometrial cancer
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Genome-wide association study identifies a common variant associated with risk of endometrial cancer

SPURDLE, Amanda B ; THOMPSON, Deborah J ; MONTGOMERY, Grant W ; WEBB, Penelope M ; FASCHING, Peter A ; BECKMANN, Matthias W ; EKICI, Arif B ; HEIN, Alexander ; LAMBRECHTS, Diether ; COENEGRACHTS, Lieve ; VERGOTE, Ignace ; AMANT, Frederic ; AHMED, Shahana ; SALVESEN, Helga B ; TROVIK, Jone ; SNJOLSTAD, Tormund ; HELLAND, Harald ; JSCOTT, Rodney ; ASHTON, Katie ; PROIETTO, Tony ; OTTON, Geoffrey ; TOMLINSON, Ian ; GORMAN, Maggie ; FERGUSON, Kaltin ; HOWARTH, Kimberley ; HODGSON, Shirley ; GARCIA-CLOSAS, Montserrat ; WENTZENSEN, Nicolas ; YANG, Hannah ; CHANOCK, Stephen ; HALL, Per ; CZENE, Kamila ; JIANJUN LIU ; LI, Jingmei ; HEALEY, Catherine S ; SHU, Xiao-Ou ; WEI ZHENG ; JIRONG LONG ; XIANG, Yong-Bing ; SHAH, Mitul ; MORRISON, Jonathan ; MICHAILIDOU, Kyriaki ; PHAROAH, Paul D ; DUNNING, Alison M ; EASTON, Douglas F ; O'MARA, Tracy ; WALKER, Logan C ; MONTGOMERY, Stephen B ; DERMITZAKIS, Emmanouil T ; FAHEY, Paul

Nature genetics, 2011-05, Vol.43 (5), p.451-454 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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5
Atopy in Australia
Atopy in Australia
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Atopy in Australia

Duffy, David L ; Weger, John ; Chenevix-Trench, Georgia ; Healey, Sue C ; Lichter, Jay ; Martin, Nick G

Nature genetics, 1995-07, Vol.10 (3), p.260-260 [Periódico revisado por pares]

United States

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6
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression
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Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Craig, Jamie E ; Han, Xikun ; Qassim, Ayub ; Hassall, Mark ; Cooke Bailey, Jessica N ; Kinzy, Tyler G ; Khawaja, Anthony P ; An, Jiyuan ; Marshall, Henry ; Gharahkhani, Puya ; Igo, Jr, Robert P ; Graham, Stuart L ; Healey, Paul R ; Ong, Jue-Sheng ; Zhou, Tiger ; Siggs, Owen ; Law, Matthew H ; Souzeau, Emmanuelle ; Ridge, Bronwyn ; Hysi, Pirro G ; Burdon, Kathryn P ; Mills, Richard A ; Landers, John ; Ruddle, Jonathan B ; Agar, Ashish ; Galanopoulos, Anna ; White, Andrew J R ; Willoughby, Colin E ; Andrew, Nicholas H ; Best, Stephen ; Vincent, Andrea L ; Goldberg, Ivan ; Radford-Smith, Graham ; Martin, Nicholas G ; Montgomery, Grant W ; Vitart, Veronique ; Hoehn, Rene ; Wojciechowski, Robert ; Jonas, Jost B ; Aung, Tin ; Pasquale, Louis R ; Cree, Angela Jane ; Sivaprasad, Sobha ; Vallabh, Neeru A ; Viswanathan, Ananth C ; Pasutto, Francesca ; Haines, Jonathan L ; Klaver, Caroline C W ; van Duijn, Cornelia M ; Casson, Robert J ; Foster, Paul J ; Khaw, Peng Tee ; Hammond, Christopher J ; Mackey, David A ; Mitchell, Paul ; Lotery, Andrew J ; Wiggs, Janey L ; Hewitt, Alex W ; MacGregor, Stuart

Nature genetics, 2020-02, Vol.52 (2), p.160-166 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Gharahkhani, Puya ; Burdon, Kathryn P ; Fogarty, Rhys ; Sharma, Shiwani ; Hewitt, Alex W ; Martin, Sarah ; Law, Matthew H ; Cremin, Katie ; Bailey, Jessica N Cooke ; Loomis, Stephanie J ; Pasquale, Louis R ; Haines, Jonathan L ; Hauser, Michael A ; Viswanathan, Ananth C ; McGuffin, Peter ; Topouzis, Fotis ; Foster, Paul J ; Graham, Stuart L ; Casson, Robert J ; Chehade, Mark ; White, Andrew J ; Zhou, Tiger ; Souzeau, Emmanuelle ; Landers, John ; Fitzgerald, Jude T ; Klebe, Sonja ; Ruddle, Jonathan B ; Goldberg, Ivan ; Healey, Paul R ; Mills, Richard A ; Wang, Jie Jin ; Montgomery, Grant W ; Martin, Nicholas G ; RadfordSmith, Graham ; Whiteman, David C ; Brown, Matthew A ; Wiggs, Janey L ; Mackey, David A ; Mitchell, Paul ; MacGregor, Stuart ; Craig, Jamie E

Nature genetics, 2014-10, Vol.46 (10), p.1120-1125 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
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Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

MacGregor, Stuart ; Ong, Jue-Sheng ; An, Jiyuan ; Han, Xikun ; Zhou, Tiger ; Siggs, Owen M ; Law, Matthew H ; Souzeau, Emmanuelle ; Sharma, Shiwani ; Lynn, David J ; Beesley, Jonathan ; Sheldrick, Bronwyn ; Mills, Richard A ; Landers, John ; Ruddle, Jonathan B ; Graham, Stuart L ; Healey, Paul R ; White, Andrew J R ; Casson, Robert J ; Best, Stephen ; Grigg, John R ; Goldberg, Ivan ; Powell, Joseph E ; Whiteman, David C ; Radford-Smith, Graham L ; Martin, Nicholas G ; Montgomery, Grant W ; Burdon, Kathryn P ; Mackey, David A ; Gharahkhani, Puya ; Craig, Jamie E ; Hewitt, Alex W

Nature genetics, 2018-08, Vol.50 (8), p.1067-1071 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
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The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Rahmioglu, Nilufer ; Mortlock, Sally ; Ghiasi, Marzieh ; Moller, Peter L ; Stefansdottir, Lilja ; Galarneau, Genevieve ; Turman, Constance ; Danning, Rebecca ; Law, Matthew H ; Sapkota, Yadav ; Christofidou, Paraskevi ; Skarp, Sini ; Giri, Ayush ; Banasik, Karina ; Krassowski, Michal ; Marciniak, Blazej ; Sliz, Eeva ; Thorleifsson, Gudmar ; Topbas-Selcuki, Nura F ; Vitonis, Allison ; Westergaard, David ; Arnadottir, Ragnheidur ; Burgdorf, Kristoffer S ; Cheuk, Cecilia S.K ; De Vivo, Immaculata ; DiVasta, Amy ; Dorien, O ; Donoghue, Jacqueline F ; Fontanillas, Pierre ; Fung, Jenny N ; Geirsson, Reynir T ; Girling, Jane E ; Harkki, Paivi ; Healey, Martin ; Holdsworth-Carson, Sarah ; Hostettler, Isabel C ; Houlden, Henry ; Houshdaran, Sahar ; Irwin, Juan C ; Kamatani, Yoichiro ; Kepka, Ewa ; Kettunen, Johannes ; Kubo, Michiaki ; Kulig, Bartosz ; Kurra, Venla ; Laufer, Marc R ; Lindgren, Cecilia M ; MacGregor, Stuart ; Mangino, Massimo ; Martin, Nicholas G ; Matalliotaki, Charoula ; Matalliotakis, Michail ; Ndungu, Anne ; Olsen, Catherine M ; Opoku-Anane, Jessica ; Padmanabhan, Sandosh ; Paranjpe, Manish ; Peters, Maire ; Polak, Grzegorz ; Saare, Merli ; Saavalainen, Liisu ; Schork, Andrew J ; Shafrir, Amy L ; Slomka, Marcin ; Smolarz, Beata ; Szaflik, Tomasz ; Szyllo, Krzysztof ; Takahashi, Atsushi ; Terry, Kathryn L ; Tomassetti, Carla ; Vanhie, Arne ; Vo, Kim C ; Werring, David J ; Zervou, Maria ; Stefansson, Kari ; Nyegaard, Mette ; Uimari, Outi ; Yurttas-Beim, Piraye ; Tung, Joyce Y ; Adachi, Sosuke ; Buring, Julie E ; Ridker, Paul M ; D'Hooghe, Thomas ; Hapangama, Dharani K ; Horne, Andrew W ; Martikainen, Hannu ; Chasman, Daniel ; Saunders, Philippa T ; Sirota, Marina ; Spector, Tim ; Whiteman, David C ; Giudice, Linda C ; Velez-Edwards, Digna R ; Kraft, Peter ; Salumets, Andres ; Magi, Reedik ; Becker, Christian M ; Steinthorsdottir, Valgerdur ; Missmer, Stacey A ; Montgomery, Grant W

NATURE GENETICS, 2023-03, Vol.55 (3), p.423-+ [Periódico revisado por pares]

NATURE PORTFOLIO

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10
Five endometrial cancer risk loci identified through genome-wide association analysis
Five endometrial cancer risk loci identified through genome-wide association analysis
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Five endometrial cancer risk loci identified through genome-wide association analysis

Cheng, Timothy Ht ; Thompson, Deborah J ; O'Mara, Tracy A ; Painter, Jodie N ; Glubb, Dylan M ; Flach, Susanne ; Lewis, Annabelle ; French, Juliet D ; Freeman-Mills, Luke ; Church, David ; Gorman, Maggie ; Martin, Lynn ; National Study of Endometrial Cancer Genetics Group (NSECG) ; Hodgson, Shirley ; Webb, Penelope M ; Australian National Endometrial Cancer Study Group (ANECS) ; Attia, John ; Holliday, Elizabeth G ; McEvoy, Mark ; Scott, Rodney J ; Henders, Anjali K ; Martin, Nicholas G ; Montgomery, Grant W ; Nyholt, Dale R ; Ahmed, Shahana ; Healey, Catherine S ; Shah, Mitul ; Dennis, Joe ; Fasching, Peter A ; Beckmann, Matthias W ; Hein, Alexander ; Ekici, Arif B ; Hall, Per ; Czene, Kamila ; Darabi, Hatef ; Li, Jingmei ; Dörk, Thilo ; Dürst, Matthias ; Hillemanns, Peter ; Runnebaum, Ingo ; Amant, Frederic ; Schrauwen, Stefanie ; Zhao, Hui ; Lambrechts, Diether ; Depreeuw, Jeroen ; Dowdy, Sean C ; Goode, Ellen L ; Fridley, Brooke L ; Winham, Stacey J ; Njølstad, Tormund S ; Salvesen, Helga B ; Trovik, Jone ; Werner, Henrica Mj ; Ashton, Katie ; Otton, Geoffrey ; Proietto, Tony ; Liu, Tao ; Mints, Miriam ; Tham, Emma ; RENDOCAS ; Consortium, Chibcha ; Jun Li, Mulin ; Yip, Shun H ; Wang, Junwen ; Bolla, Manjeet K ; Michailidou, Kyriaki ; Wang, Qin ; Tyrer, Jonathan P ; Dunlop, Malcolm ; Houlston, Richard ; Palles, Claire ; Hopper, John L ; AOCS Group ; Peto, Julian ; Swerdlow, Anthony J ; Burwinkel, Barbara ; Brenner, Hermann ; Meindl, Alfons ; Brauch, Hiltrud ; Lindblom, Annika ; Chang-Claude, Jenny ; Couch, Fergus J ; Giles, Graham G ; Kristensen, Vessela N ; Cox, Angela ; Cunningham, Julie M ; Pharoah, Paul DP ; Dunning, Alison M ; Edwards, Stacey L ; Easton, Douglas F ; Tomlinson, Ian ; Spurdle, Amanda B

Nature genetics, 2016-05, Vol.48 (6), p.667-674 [Periódico revisado por pares]

Nature Research

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