Search Filters
Format Format
Format Format
Sort by Item Count (A-Z)
Filter by Count
Journal Article (565) 565
Newspaper Article (47) 47
Publication (22) 22
Patent (19) 19
Magazine Article (7) 7
Conference Proceeding (4) 4
Book Chapter (2) 2
Dissertation (1) 1
Subjects Subjects
Subjects Subjects
Sort by Item Count (A-Z)
Filter by Count
humans (295) 295
male (219) 219
female (209) 209
mutation (195) 195
genetics & heredity (176) 176
genetics (124) 124
genetic aspects (120) 120
pedigree (102) 102
child (96) 96
animals (84) 84
adult (82) 82
research (78) 78
phenotype (75) 75
child, preschool (71) 71
gene mutations (70) 70
gene (69) 69
genes (69) 69
adolescent (65) 65
infant (56) 56
molecular sequence data (56) 56
proteins (56) 56
mutations (55) 55
middle aged (53) 53
amino acid sequence (52) 52
mice (50) 50
mutation - genetics (46) 46
dna mutational analysis (45) 45
clinical neurology (44) 44
disease (44) 44
exome (44) 44
neurosciences (44) 44
base sequence (42) 42
young adult (42) 42
biochemistry & molecular biology (41) 41
health aspects (41) 41
analysis (40) 40
life sciences (39) 39
risk factors (39) 39
diagnosis (37) 37
genomes (37) 37
physiological aspects (37) 37
alleles (36) 36
abridged index medicus (35) 35
intellectual disability - genetics (34) 34
protein (33) 33
mutation, missense (32) 32
exome - genetics (31) 31
sequence analysis, dna (31) 31
expression (30) 30
homozygote (30) 30
identification (30) 30
infant, newborn (30) 30
medical and health sciences (30) 30
medicin och hälsovetenskap (30) 30
genomics (29) 29
genotype (28) 28
polymorphism, single nucleotide (28) 28
gene expression (27) 27
aged (25) 25
genetic predisposition to disease (25) 25
genetic research (24) 24
genotype & phenotype (24) 24
family (23) 23
genetic association studies (23) 23
genetic disorders (23) 23
genetic linkage (23) 23
multidisciplinary sciences (23) 23
research article (23) 23
syndrome (23) 23
causes of (22) 22
heterozygote (22) 22
human genetics (22) 22
intellectual disability (22) 22
mitochondria (22) 22
whole exome sequencing (22) 22
children (21) 21
genome-wide association study (21) 21
phenotypes (21) 21
biochemistry (20) 20
clinical medicine (20) 20
membrane proteins - genetics (20) 20
exons (19) 19
intellectual disabilities (19) 19
klinisk medicin (19) 19
medicine, research & experimental (19) 19
chromosome mapping (18) 18
endocrinology & metabolism (18) 18
epilepsy (18) 18
fibroblasts - metabolism (18) 18
mitochondrial proteins - genetics (18) 18
chromosomes (17) 17
eye diseases (17) 17
gene frequency (17) 17
genes, recessive (17) 17
genetic variation (17) 17
magnetic resonance imaging (17) 17
metabolic diseases (17) 17
microbiology (17) 17
mitochondrial dna (17) 17
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range

The Lancet (British edition), ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Journal Article
by Majithia, A. R and Flannick, J and Shahinian, P and Guo, M and Bray, M.-A and Fontanillas, P and Gabriel, S. B and Rosen, E. D and Altshuler, D and Manning, A. K and Hartl, C and Agarwala, V and Green, T and Banks, E and DePristo, M and Poplin, R and Shakir, K and Fennell, T and Njolstad, P. R and Burtt, N and Gabriel, S and Fuchsberger, C and Kang, H. M and Sim, X and Ma, C and Locke, A and Blackwell, T and Jackson, A and Teslovich, T. M and Stringham, H and Chines, P and Kwan, P and Huyghe, J and Tan, A and Jun, G and Stitzel, M and Bergman, R. N and Bonnycastle, L and Tuomilehto, J and Collins, F. S and Scott, L and Mohlke, K and Abecasis, G and Boehnke, M and Strom, T and Gieger, C and Nurasyid, M. M and Grallert, H and Kriebel, J and Ried, J and Hrabe de Angelis, M and Huth, C and Meisinger, C and Peters, A and Rathmann, W and Strauch, K and Meitinger, T and Kravic, J and Algren, P and Ladenvall, C and Toumi, T and Isomaa, B and Groop, L and Gaulton, K and Moutsianas, L and Rivas, M and Pearson, R and Mahajan, A and Prokopenko, I and Kumar, A and Perry, J and Howie, B and van de Bunt, M and Small, K and Lindgren, C and Lunter, G and Robertson, N and Rayner, W and Morris, A and Buck, D and Hattersley, A and Spector, T and McVean, G and Frayling, T and Donnelly, P and McCarthy, M and Gupta, N and Taylor, H and Fox, E and Cheh, C. N and Wilson, J. G and O'Donnell, C. J and Kathiresan, S and Hirschhorn, J and Seidman, J. G and Seidman, C and Williams, A. L and Jacobs, S. B. R and Macias, H. M and Chagoya, A. H and ... and NHGRI JHS/FHS Allelic Spectrum Project and SIGMA T2D Consortium and GoT2D Consortium and T2D-GENES Consortium and NHGRI JHS-FHS Allelic Spectrum Pr
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2014, Volume 111, Issue 36, pp. 13127 - 13132
Journal Article
by Nicolas, Aude and Kenna, Kevin P and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Kenna, Brendan J and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A and van Vugt, Joke J.F.A and Geiger, Joshua T and Van der Spek, Rick A and Pliner, Hannah A and Shankaracharya and Smith, Bradley N and Marangi, Giuseppe and Topp, Simon D and Abramzon, Yevgeniya and Gkazi, Athina Soragia and Eicher, John D and Kenna, Aoife and Mora, Gabriele and Calvo, Andrea and Mazzini, Letizia and Riva, Nilo and Mandrioli, Jessica and Caponnetto, Claudia and Battistini, Stefania and Volanti, Paolo and La Bella, Vincenzo and Conforti, Francesca L and Borghero, Giuseppe and Messina, Sonia and Simone, Isabella L and Trojsi, Francesca and Salvi, Fabrizio and Logullo, Francesco O and D’Alfonso, Sandra and Corrado, Lucia and Capasso, Margherita and Ferrucci, Luigi and Moreno, Cristiane de Araujo Martins and Kamalakaran, Sitharthan and Goldstein, David B and Gitler, Aaron D and Harris, Tim and Myers, Richard M and Phatnani, Hemali and Musunuri, Rajeeva Lochan and Evani, Uday Shankar and Abhyankar, Avinash and Zody, Michael C and Kaye, Julia and Finkbeiner, Steven and Wyman, Stacia K and LeNail, Alex and Lima, Leandro and Fraenkel, Ernest and Svendsen, Clive N and Thompson, Leslie M and Van Eyk, Jennifer E and Berry, James D and Miller, Timothy M and Kolb, Stephen J and Cudkowicz, Merit and Baxi, Emily and Benatar, Michael and Taylor, J. Paul and Rampersaud, Evadnie and Wu, Gang and Wuu, Joanne and Lauria, Giuseppe and Verde, Federico and Fogh, Isabella and Tiloca, Cinzia and Comi, Giacomo P and Sorarù, Gianni and Cereda, Cristina and Corcia, Philippe and Laaksovirta, Hannu and Myllykangas, Liisa and Jansson, Lilja and Valori, Miko and Ealing, John and Hamdalla, Hisham and Rollinson, Sara and Pickering-Brown, Stuart and Orrell, Richard W and Sidle, Katie C and Malaspina, Andrea and Hardy, John and Singleton, Andrew B and Johnson, Janel O and Arepalli, Sampath and Sapp, Peter C and McKenna-Yasek, Diane and ... and Project MinE ALS Sequencing Consortium and ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and NYGC ALS Consortium and ITALSGEN Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and SLAGEN Consortium and French ALS Consortium and Genomic Translation ALS Care GTAC and Clinical Res ALS Related Disorders and Project MinE ALS Sequencing Consor and Answer ALS Fdn
Neuron (Cambridge, Mass.), ISSN 0896-6273, 2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
Journal Article
Journal Article
by Flannick, Jason and Mercader, Josep M and Fuchsberger, Christian and Udler, Miriam S and Mahajan, Anubha and Wessel, Jennifer and Teslovich, Tanya M and Caulkins, Lizz and Koesterer, Ryan and Barajas-Olmos, Francisco and Blackwell, Thomas W and Boerwinkle, Eric and Brody, Jennifer A and Centeno-Cruz, Federico and Chen, Ling and Chen, Siying and Contreras-Cubas, Cecilia and Córdova, Emilio and Correa, Adolfo and Cortes, Maria and DeFronzo, Ralph A and Dolan, Lawrence and Drews, Kimberly L and Elliott, Amanda and Floyd, James S and Gabriel, Stacey and Garay-Sevilla, Maria Eugenia and García-Ortiz, Humberto and Gross, Myron and Han, Sohee and Heard-Costa, Nancy L and Jackson, Anne U and Jørgensen, Marit E and Kang, Hyun Min and Kelsey, Megan and Kim, Bong-Jo and Koistinen, Heikki A and Kuusisto, Johanna and Leader, Joseph B and Linneberg, Allan and Liu, Ching-Ti and Liu, Jianjun and Lyssenko, Valeriya and Manning, Alisa K and Marcketta, Anthony and Malacara-Hernandez, Juan Manuel and Martínez-Hernández, Angélica and Matsuo, Karen and Mayer-Davis, Elizabeth and Mendoza-Caamal, Elvia and Mohlke, Karen L and Morrison, Alanna C and Ndungu, Anne and Ng, Maggie C. Y and O’Dushlaine, Colm and Payne, Anthony J and Pihoker, Catherine and Post, Wendy S and Preuss, Michael and Psaty, Bruce M and Vasan, Ramachandran S and Rayner, N. William and Reiner, Alexander P and Revilla-Monsalve, Cristina and Robertson, Neil R and Santoro, Nicola and Schurmann, Claudia and So, Wing Yee and Soberón, Xavier and Stringham, Heather M and Strom, Tim M and Tam, Claudia H. T and Thameem, Farook and Tomlinson, Brian and Torres, Jason M and Tracy, Russell P and van Dam, Rob M and Vujkovic, Marijana and Wang, Shuai and Welch, Ryan P and Witte, Daniel R and Wong, Tien-Yin and Atzmon, Gil and Barzilai, Nir and Blangero, John and Bonnycastle, Lori L and Bowden, Donald W and Chambers, John C and Chan, Edmund and Cheng, Ching-Yu and Cho, Yoon Shin and Collins, Francis S and de Vries, Paul S and Duggirala, Ravindranath and Glaser, Benjamin and Gonzalez, Clicerio and Gonzalez, Ma Elena and Groop, Leif and Kooner, Jaspal Singh and Kwak, Soo Heon and ... and DiscovEHR Collaboration and ESP and GoT2D and SIGMA-T2D and Broad Genomics Platform and AMP-T2D-GENES and LuCamp and T2D-GENES and CHARGE and ProDiGY
Nature (London), ISSN 1476-4687, 2019, Volume 570, Issue 7759, pp. 71 - 76
Journal Article
by Fuchsberger, Christian and Flannick, Jason and Teslovich, Tanya M and Mahajan, Anubha and Agarwala, Vineeta and Gaulton, Kyle J and Ma, Clement and Fontanillas, Pierre and Moutsianas, Loukas and McCarthy, Davis J and Rivas, Manuel A and Perry, John R. B and Sim, Xueling and Blackwell, Thomas W and Robertson, Neil R and Rayner, N. William and Cingolani, Pablo and Locke, Adam E and Tajes, Juan Fernandez and Highland, Heather M and Dupuis, Josee and Chines, Peter S and Lindgren, Cecilia M and Hartl, Christopher and Jackson, Anne U and Chen, Han and Huyghe, Jeroen R and van de Bunt, Martijn and Pearson, Richard D and Kumar, Ashish and Müller-Nurasyid, Martina and Grarup, Niels and Stringham, Heather M and Gamazon, Eric R and Lee, Jaehoon and Chen, Yuhui and Scott, Robert A and Below, Jennifer E and Chen, Peng and Huang, Jinyan and Go, Min Jin and Stitzel, Michael L and Pasko, Dorota and Parker, Stephen C. J and Varga, Tibor V and Green, Todd and Beer, Nicola L and Day-Williams, Aaron G and Ferreira, Teresa and Fingerlin, Tasha and Horikoshi, Momoko and Hu, Cheng and Huh, Iksoo and Ikram, Mohammad Kamran and Kim, Bong-Jo and Kim, Yongkang and Kim, Young Jin and Kwon, Min-Seok and Lee, Juyoung and Lee, Selyeong and Lin, Keng-Han and Maxwell, Taylor J and Nagai, Yoshihiko and Wang, Xu and Welch, Ryan P and Yoon, Joon and Zhang, Weihua and Barzilai, Nir and Voight, Benjamin F and Han, Bok-Ghee and Jenkinson, Christopher P and Kuulasmaa, Teemu and Kuusisto, Johanna and Manning, Alisa and Ng, Maggie C. Y and Palmer, Nicholette D and Balkau, Beverley and Stančáková, Alena and Abboud, Hanna E and Boeing, Heiner and Giedraitis, Vilmantas and Prabhakaran, Dorairaj and Gottesman, Omri and Scott, James and Carey, Jason and Kwan, Phoenix and Grant, George and Smith, Joshua D and Neale, Benjamin M and Purcell, Shaun and Butterworth, Adam S and Howson, Joanna M. M and Lee, Heung Man and Lu, Yingchang and Kwak, Soo-Heon and Zhao, Wei and Danesh, John and Lam, Vincent K. L and Park, Kyong Soo and Saleheen, Danish and ... and GoT2D Consortium and T2D-Genes Consortium
Nature (London), ISSN 1476-4687, 2016, Volume 536, Issue 7614, pp. 41 - 47
Journal Article