Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits

by Speliotes, Elizabeth K, Yerges-Armstrong, Laura M, Wu, Jun, Hernaez, Ruben, Kim, Lauren J, Palmer, Cameron D, Gudnason, Vilmundur, Eiriksdottir, Gudny, Garcia, Melissa E, Launer, Lenore J, Nalls, Michael A, Clark, Jeanne M, Mitchell, Braxton D, Shuldiner, Alan R, Butler, Johannah L, Tomas, Marta, Hoffmann, Udo, Hwang, Shih-Jen, Massaro, Joseph M, O'Donnell, Christopher J, Sahani, Dushyant V, Salomaa, Veikko, Schadt, Eric E, Schwartz, Stephen M, Siscovick, David S, Voight, Benjamin F, Carr, J Jeffrey, Feitosa, Mary F, Harris, Tamara B, Fox, Caroline S, Smith, Albert V, Kao, W H Linda, Hirschhorn, Joel N, Borecki, Ingrid B
Published in PLoS genetics

Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women

by Fox, Caroline S, Liu, Yongmei, White, Charles C, Feitosa, Mary, Smith, Albert V, Heard-Costa, Nancy, Lohman, Kurt, Johnson, Andrew D, Foster, Meredith C, Greenawalt, Danielle M, Griffin, Paula, Ding, Jinghong, Newman, Anne B, Tylavsky, Fran, Miljkovic, Iva, Kritchevsky, Stephen B, Launer, Lenore, Garcia, Melissa, Eiriksdottir, Gudny, Carr, J Jeffrey, Gudnason, Vilmunder, Harris, Tamara B, Cupples, L Adrienne, Borecki, Ingrid B
Published in PLoS genetics

Mining the human phenome using allelic scores that index biological intermediates

by Evans, David M, Brion, Marie Jo A, Paternoster, Lavinia, Kemp, John P, McMahon, George, Munafò, Marcus, Whitfield, John B, Medland, Sarah E, Montgomery, Grant W, Timpson, Nicholas J, St Pourcain, Beate, Lawlor, Debbie A, Martin, Nicholas G, Dehghan, Abbas, Hirschhorn, Joel, Smith, George Davey
Published in PLoS genetics

Global accumulation of circRNAs during aging in Caenorhabditis elegans

by Cortés-López, Mariela, Gruner, Matthew R, Cooper, Daphne A, Gruner, Hannah N, Voda, Alexandru-Ioan, van der Linden, Alexander M, Miura, Pedro
Published in BMC genomics

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

by Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David N., Tyler-Smith, Chris
Published in American journal of human genetics

The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT>GC Variants Differ Markedly from Those Predicted

by Chen, Jian-Min, Lin, Jin-Huan, Masson, Emmanuelle, Liao, Zhuan, Férec, Claude, Cooper, David N., Hayden, Matthew
Published in Current genomics

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations

by Wei, Xiaomu, Das, Jishnu, Fragoza, Robert, Liang, Jin, Bastos de Oliveira, Francisco M, Lee, Hao Ran, Wang, Xiujuan, Mort, Matthew, Stenson, Peter D, Cooper, David N, Lipkin, Steven M, Smolka, Marcus B, Yu, Haiyuan
Published in PLoS genetics

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Gen...

by Graff, Mariaelisa, Lu, Yingchang, Justice, Anne E, Mudgal, Poorva, Liu, Ching-Ti, Young, Kristin, Yanek, Lisa R, Feitosa, Mary F, Wojczynski, Mary K, Rand, Kristin, Brody, Jennifer A, Cade, Brian E, Dimitrov, Latchezar, Duan, Qing, Guo, Xiuqing, Lange, Leslie A, Nalls, Michael A, Okut, Hayrettin, Vedantam, Sailaja, Bradfield, Jonathan P, Chen, Guanjie, Chen, Wei-Min, Chesi, Alessandra, Irvin, Marguerite R, Padhukasahasram, Badri, Smith, Jennifer A, Zheng, Wei, Allison, Matthew A, Bandera, Elisa V, Bartz, Traci M, Berndt, Sonja I, Bernstein, Leslie, Blot, William J, Bottinger, Erwin P, Carpten, John, Chen, Yii-Der Ida, Cooper, Richard S, Fornage, Myriam, Freedman, Barry I, Garcia, Melissa, Goodman, Phyllis J, Hsu, Yu-Han H, Hu, Jennifer, Huff, Chad D, Ingles, Sue A, John, Esther M, Kittles, Rick, Klein, Eric, Li, Jin, McKnight, Barbara, Nayak, Uma, Nemesure, Barbara, Ogunniyi, Adesola, Olshan, Andrew, Rohde, Rebecca, Rybicki, Benjamin A, Salako, Babatunde, Sanderson, Maureen, Shao, Yaming, Siscovick, David S, Stanford, Janet L, Stevens, Victoria L, Stram, Alex, Strom, Sara S, Vaidya, Dhananjay, Witte, John S, Zhu, Xiaofeng, Ziegler, Regina G, Adeyemo, Adebowale, Cushman, Mary, Faul, Jessica D, Levin, Albert M, Nathanson, Katherine L, Ware, Erin B, Weir, David R, Zhao, Wei, Zhi, Degui, Arnett, Donna K, Grant, Struan F A, Kardia, Sharon L R, Oloapde, Olufunmilayo I, Rao, D C, Rotimi, Charles N, Williams, L Keoki, Zemel, Babette S, Becker, Diane M, Borecki, Ingrid B, Evans, Michele K, Harris, Tamara B, Hirschhorn, Joel N, Li, Yun, Patel, Sanjay R, Psaty, Bruce M, Rotter, Jerome I, Wilson, James G, Bowden, Donald W, Cupples, L Adrienne, Haiman, Christopher A, Loos, Ruth J F, North, Kari E
Published in PLoS genetics

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

by Spillmann, Rebecca C, McConkie-Rosell, Allyn, Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Walley, Nicole, Sanders, Camilla, Sullivan, Jennifer, Hooper, Stephen R, Shashi, Vandana
Published in Orphanet journal of rare diseases

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

by Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David N, Filocamo, Mirella
Published in Orphanet journal of rare diseases

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

by Shihab, Hashem A, Gough, Julian, Mort, Matthew, Cooper, David N, Day, Ian N M, Gaunt, Tom R
Published in Human genomics

Participation in a national diagnostic research study: assessing the patient experience

by Rosenfeld, Lindsay E, LeBlanc, Kimberly, Nagy, Anna, Ego, Braeden K, McCray, Alexa T
Published in Orphanet journal of rare diseases

Drosophila muller f elements maintain a distinct set of genomic properties over 40 million years of evolution

by Shaffer, Christopher D, Price, Amber L, Walji, Tezin A, Brock, Ethan J, Brooks, Dana W, Dorsett, Sasha L, Downey, Kaitlyn A, Koaches, Hannah C, Powers, Michelle K, Rhee, Dong K, Saluja, Rasleen K, Tilot, Amanda K, Cristostomo, Michael C, Chiang, Scott, Custer, Ashley F, DiTommaso, Tia M, Grove, Ryan A, Hong, Emily L, Presley, Jonathan D, Sreenivasan, Aparna, Khan, Ambreen, Messiah, Shady, Winkler, Stacey, Hoogewerf, Arlene J, Bushhouse, Kelsey T, Davis, Yelena P, Howell, Emily J, Menyes, Erika E, Nollet, Eric A, Uitvlugt, Chris, Bhatiya, Chinmoy I, Miller, Emily G, Palozola, Katherine C, Pham, Philip, Rankin, Helen, Zhang, Yi, Baker, Morgan, Brinkley, Briana, Enoch, Erica, Matthews, Jordan E, Wolyniak, Michael J, DiAngelo, Justin R, Sharif, Karim A, Hoover, Betsy, Baker, Atlee, Beckett, Alissa, Conrad, Turner, Morgan, Abbie, Neutzling, William, Tirasawasdichai, Tiara, Eckdahl, Todd T, Poet, Jeffrey L, Allen, Alica B, Clary, Andrea N, Ogden, Bradley J, Smith, Anna L, Zhu, Xiao, Bisogno, Laura Simone, Freeburg, Trip, Svoronos, Petros, Ward, Alyssa, Cognetti, Peter A, Hennessy, Bryan M, Moran, Joseph V, Deranek, Kelly M, Rossi, Nadine L, Tuberty, Sarah, Maffa, Amanda, Trieu, Melissa, Mendoza, Carlos, Smith, Jonathan E, Clarke-Medley, Nicole, Guadron, Leslie, Archambault, Alexi, Chamma, Norma, Lau, Joyce H, Spencer, J Devin, Stemler, Kristina M, Bashiri, Azita, Zhang, Jiayu, Burgos-Bula, Andrea P, Colón-Cruz, Luis R, Santiago-Colón, Albeliz, Chen, York, Gunasinghe, Hashini, Knowles, Olivia, Kong, Sarah, Li, Yedda, Diez, Cristina Montero, Rastogi, Suchita, Sun, Mengyang, Tzeng, Albert, Wang, Tracy, Morris, Robert W, Woytanowski, John, Watchinski, Carmen A, Weber, Rachel E, Adebayo, Adeola, Serjanov, Dmitri, Riddle, Nicole C
Published in G3 : genes - genomes - genetics

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours

by Thomas, Laura E, Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M, Tee, Andrew R, McDyer, Fionnuala, Moore, Stephen, Cooper, David N, Upadhyaya, Meena
Published in Human genomics