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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

King, Elizabeth E ; Yao, Li ; Lechleiter, James D ; Aronin, Neil ; Opocher, Giuseppe ; Boaretto, Francesca ; Chocron, E Sandra ; Lenci, Romina E ; Stiles, Charles ; Buddavarapu, Kalyan ; Toledo, Sergio P A ; Dahia, Patricia L M ; Schiavi, Francesca ; Qin, Yuejuan ; Sass, Meghan ; Aguiar, Ricardo C T ; Toledo, Rodrigo A

Nature genetics, 2010-03, Vol.42 (3), p.229-233 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma
Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma
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Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma

Gunawardana, Jay ; Chan, Fong Chun ; Telenius, Adèle ; Woolcock, Bruce ; Kridel, Robert ; Tan, King L ; Ben-Neriah, Susana ; Mottok, Anja ; Lim, Raymond S ; Boyle, Merrill ; Rogic, Sanja ; Rimsza, Lisa M ; Guiter, Chrystelle ; Leroy, Karen ; Gaulard, Philippe ; Haioun, Corinne ; Marra, Marco A ; Savage, Kerry J ; Connors, Joseph M ; Shah, Sohrab P ; Gascoyne, Randy D ; Steidl, Christian

Nature genetics, 2014-04, Vol.46 (4), p.329-335 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis
Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis
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Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis

Gottlieb, Paul D ; Srivastava, Deepak ; Pierce, Stephanie A ; Sims, Robert J ; Yamagishi, Hiroyuki ; Weihe, Elizabeth K ; Harriss, June V ; Maika, Shanna D ; Kuziel, William A ; King, Heather L ; Olson, Eric N ; Nakagawa, Osamu

Nature genetics, 2002-05, Vol.31 (1), p.25-32 [Periódico revisado por pares]

London: Nature Publishing Group

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4
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kenna, Kevin P ; van Doormaal, Perry T C ; Dekker, Annelot M ; Ticozzi, Nicola ; Kenna, Brendan J ; Diekstra, Frank P ; van Rheenen, Wouter ; van Eijk, Kristel R ; Jones, Ashley R ; Keagle, Pamela ; Shatunov, Aleksey ; Sproviero, William ; Smith, Bradley N ; van Es, Michael A ; Topp, Simon D ; Kenna, Aoife ; Miller, Jack W ; Fallini, Claudia ; Tiloca, Cinzia ; McLaughlin, Russell L ; Vance, Caroline ; Troakes, Claire ; Colombrita, Claudia ; Mora, Gabriele ; Calvo, Andrea ; Verde, Federico ; Al-Sarraj, Safa ; King, Andrew ; Calini, Daniela ; de Belleroche, Jacqueline ; Baas, Frank ; van der Kooi, Anneke J ; de Visser, Marianne ; Ten Asbroek, Anneloor L M A ; Sapp, Peter C ; McKenna-Yasek, Diane ; Polak, Meraida ; Asress, Seneshaw ; Muñoz-Blanco, José Luis ; Strom, Tim M ; Meitinger, Thomas ; Morrison, Karen E ; Lauria, Giuseppe ; Williams, Kelly L ; Leigh, P Nigel ; Nicholson, Garth A ; Blair, Ian P ; Leblond, Claire S ; Dion, Patrick A ; Rouleau, Guy A ; Pall, Hardev ; Shaw, Pamela J ; Turner, Martin R ; Talbot, Kevin ; Taroni, Franco ; Boylan, Kevin B ; Van Blitterswijk, Marka ; Rademakers, Rosa ; Esteban-Pérez, Jesús ; García-Redondo, Alberto ; Van Damme, Phillip ; Robberecht, Wim ; Chio, Adriano ; Gellera, Cinzia ; Drepper, Carsten ; Sendtner, Michael ; Ratti, Antonia ; Glass, Jonathan D ; Mora, Jesús S ; Basak, Nazli A ; Hardiman, Orla ; Ludolph, Albert C ; Andersen, Peter M ; Weishaupt, Jochen H ; Brown, Jr, Robert H ; Al-Chalabi, Ammar ; Silani, Vincenzo ; Shaw, Christopher E ; van den Berg, Leonard H ; Veldink, Jan H ; Landers, John E

Nature genetics, 2016-09, Vol.48 (9), p.1037-1042 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Identification of common variants associated with human hippocampal and intracranial volumes
Identification of common variants associated with human hippocampal and intracranial volumes
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Identification of common variants associated with human hippocampal and intracranial volumes

STEIN, Jason L ; MEDLAND, Sarah E ; BERNARD, Manon ; BROWN, Andrew A ; CANNON, Dara M ; MALLAR CHAKRAVARTY, M ; CHRISTOFOROU, Andrea ; DOMIN, Martin ; GRIMM, Oliver ; HOLLINSHEAD, Marisa ; HOLMES, Avram J ; HOMUTH, Georg ; ARIAS VASQUEZ, Alejandro ; HOTTENGA, Jouke-Jan ; LANGAN, Camilla ; LOPEZ, Lorna M ; HANSELL, Narelle K ; HWANG, Kristy S ; KIM, Sungeun ; LAJE, Gonzalo ; LEE, Phil H ; XINMIN LIU ; LOTH, Eva ; HIBAR, Derrek P ; LOURDUSAMY, Anbarasu ; MATTINGSDAL, Morten ; MOHNKE, Sebastian ; MUNOZ MANIEGA, Susana ; NHO, Kwangsik ; NUGENT, Allison C ; O'BRIEN, Carol ; PAPMEYER, Martina ; PÜTZ, Benno ; RAMASAMY, Adaikalavan ; SENSTAD, Rudy E ; RASMUSSEN, Jerod ; RIJPKEMA, Mark ; RISACHER, Shannon L ; COOPER RODDEY, J ; ROSE, Emma J ; RYTEN, Mina ; LI SHEN ; SPROOTEN, Emma ; STRENGMAN, Eric ; TEUMER, Alexander ; WINKLER, Anderson M ; TRABZUNI, Daniah ; TURNER, Jessica ; EIJK, Kristel Van ; ERP, Theo G.m Van ; TOL, Marie-Jose Van ; WITTFELD, Katharina ; WOLF, Christiane ; WOUDSTRA, Saskia ; ALEMAN, Andre ; ALHUSAINI, Saud ; TORO, Roberto ; APPEL, Katja ; BARTECEK, Richard ; BERGMANN, Ørjan

Nature genetics, 2012-05, Vol.44 (5), p.552-561 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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6
Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation
Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation
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Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation

Adlam, David ; Berrandou, Takiy-Eddine ; Georges, Adrien ; Nelson, Christopher P ; Giannoulatou, Eleni ; Henry, Joséphine ; Ma, Lijiang ; Blencowe, Montgomery ; Turley, Tamiel N ; Yang, Min-Lee ; Chopade, Sandesh ; Finan, Chris ; Braund, Peter S ; Sadeg-Sayoud, Ines ; Iismaa, Siiri E ; Kosel, Matthew L ; Zhou, Xiang ; Hamby, Stephen E ; Cheng, Jenny ; Liu, Lu ; Tarr, Ingrid ; Muller, David W M ; d'Escamard, Valentina ; King, Annette ; Brunham, Liam R ; Baranowska-Clarke, Ania A ; Debette, Stéphanie ; Amouyel, Philippe ; Olin, Jeffrey W ; Patil, Snehal ; Hesselson, Stephanie E ; Junday, Keerat ; Kanoni, Stavroula ; Aragam, Krishna G ; Butterworth, Adam S ; Tweet, Marysia S ; Gulati, Rajiv ; Combaret, Nicolas ; Kadian-Dodov, Daniella ; Kalman, Jonathan M ; Fatkin, Diane ; Hingorani, Aroon D ; Saw, Jacqueline ; Webb, Tom R ; Hayes, Sharonne N ; Yang, Xia ; Ganesh, Santhi K ; Olson, Timothy M ; Kovacic, Jason C ; Graham, Robert M ; Samani, Nilesh J ; Bouatia-Naji, Nabila

Nature genetics, 2023-06, Vol.55 (6), p.964-972 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
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Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

Gaffney, Patrick M ; Adrianto, Indra ; Wen, Feng ; Templeton, Amanda ; Wiley, Graham ; King, Jarrod B ; Lessard, Christopher J ; Bates, Jared S ; Hu, Yanqing ; Kelly, Jennifer A ; Kaufman, Kenneth M ; Guthridge, Joel M ; Alarcón-Riquelme, Marta E ; Anaya, Juan-Manuel ; Bae, Sang-Cheol ; Bang, So-Young ; Boackle, Susan A ; Brown, Elizabeth E ; Petri, Michelle A ; Gallant, Caroline ; Ramsey-Goldman, Rosalind ; Reveille, John D ; Vila, Luis M ; Criswell, Lindsey A ; Edberg, Jeffrey C ; Freedman, Barry I ; Gregersen, Peter K ; Gilkeson, Gary S ; Jacob, Chaim O ; James, Judith A ; Kamen, Diane L ; Kimberly, Robert P ; Martin, Javier ; Merrill, Joan T ; Niewold, Timothy B ; Park, So-Yeon ; Pons-Estel, Bernardo A ; Scofield, R Hal ; Stevens, Anne M ; Tsao, Betty P ; Vyse, Timothy J ; Langefeld, Carl D ; Harley, John B ; Moser, Kathy L ; Webb, Carol F ; Humphrey, Mary Beth ; Montgomery, Courtney Gray

Nature genetics, 2011-03, Vol.43 (3), p.253-258 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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8
Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma
Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma
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Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma

Chapman, Owen S ; Luebeck, Jens ; Sridhar, Sunita ; Wong, Ivy Tsz-Lo ; Dixit, Deobrat ; Wang, Shanqing ; Prasad, Gino ; Rajkumar, Utkrisht ; Pagadala, Meghana S ; Larson, Jon D ; He, Britney Jiayu ; Hung, King L ; Lange, Joshua T ; Dehkordi, Siavash R ; Chandran, Sahaana ; Adam, Miriam ; Morgan, Ling ; Wani, Sameena ; Tiwari, Ashutosh ; Guccione, Caitlin ; Lin, Yingxi ; Dutta, Aditi ; Lo, Yan Yuen ; Juarez, Edwin ; Robinson, James T ; Korshunov, Andrey ; Michaels, John-Edward A ; Cho, Yoon-Jae ; Malicki, Denise M ; Coufal, Nicole G ; Levy, Michael L ; Hobbs, Charlotte ; Scheuermann, Richard H ; Crawford, John R ; Pomeroy, Scott L ; Rich, Jeremy N ; Zhang, Xinlian ; Chang, Howard Y ; Dixon, Jesse R ; Bagchi, Anindya ; Deshpande, Aniruddha J ; Carter, Hannah ; Fraenkel, Ernest ; Mischel, Paul S ; Wechsler-Reya, Robert J ; Bafna, Vineet ; Mesirov, Jill P ; Chavez, Lukas

Nature genetics, 2023-12, Vol.55 (12), p.2189-2199 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Graham, John M ; Krakow, Deborah ; Bertolotto, Cristina ; Morgan, Timothy ; King, Lily M ; Bonafe, Luisa ; Kim, Chong Ae ; Bacino, Carlos A ; Steiner, Carlos E ; Takafuta, Toshiro ; Firth, Helen ; Bialer, Martin G ; Rimoin, David L ; Cohn, Daniel H ; Wachsmann-Hogiu, Sebastian ; Acuna, Dora ; Cormier-Daire, Valerie ; Aftimos, Salim ; Superti-Furga, Andrea ; Lachman, Ralph S ; Robertson, Stephen P ; Allanson, Judith ; Shapiro, Sandor S ; Grix, Arthur ; Sebald, Eiman T

Nature genetics, 2004-04, Vol.36 (4), p.405-410 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1
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Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

C Robinson, Hannah ; Lutz, Hans U ; Harrison, Penny ; Ficarella, Romina ; King, May-Jean ; Gore, Daniel M ; Borgese, Franck ; Goede, Jeroen S ; Bruce, Lesley J ; Ellory, J Clive ; Guizouarn, Hélène ; Stewart, Gordon W ; Iolascon, Achille ; Layton, D Mark ; Coles, Suzanne E

Nature genetics, 2005-11, Vol.37 (11), p.1258-1263 [Periódico revisado por pares]

London: Nature Publishing Group

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