Whole‐exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease

by Patel, T   Brookes, K. J   Turton, J   Chaudhury, S   Guetta‐Baranes, T   Guerreiro, R   Bras, J   Hernandez, D   Singleton, A   Francis, P. T   Hardy, J   Morgan, K Published in Neuropathology and applied neurobiology (01.08.2018)

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

by Zhao, Wei   Robertson, Neil R   Kitajima, Hidetoshi   Taliun, Daniel   Jensen, Richard A   Lohman, Kurt K   Flannick, Jason   Grarup, Niels   Trubetskoy, Vassily Vladimirovich   Müller-Nurasyid, Martina   Li-Gao, Ruifang   Smith, Albert Vernon   Ligthart, Symen   Malerba, Giovanni   Demirkan, Ayse   Tajes, Juan Fernandez   Preuss, Michael   Graff, Marielisa   Highland, Heather M   Justice, Anne E   Liu, Dajiang J   Peloso, Gina Marie   Afaq, Saima   Afzal, Shoaib   Almgren, Peter   Amin, Najaf   Bang, Lia B   Brody, Jennifer A   Canouil, Mickaël   Chen, Yii-Der Ida   Christensen, Cramer   Eastwood, Sophie V   Gambaro, Giovanni   Grove, Megan L   Hackinger, Sophie   Tybjærg-Hansen, Anne   Jäger, Susanne   Jørgensen, Marit E   Jørgensen, Torben   Käräjämäki, Annemari   Kovacs, Peter   Kronenberg, Florian   Lin, Keng-Hung   Liu, Ching-Ti   Loh, Marie   Mamakou, Vasiliki   McKean-Cowdin, Roberta   Neville, Matt   Nielsen, Sune F   Ntalla, Ioanna   Rice, Kenneth   Rode, Line   Rolandsson, Olov   Selvin, Elizabeth   Small, Kerrin S   Surendran, Praveen   Thorand, Barbara   Thorleifsson, Gudmar   Varbo, Anette   Yengo, Loïc   Young, Robin   Boeing, Heiner   Boerwinkle, Eric   Dedoussis, George   Dehghan, Abbas   Florez, Jose C   Frossard, Philippe   Kuusisto, Johanna   Launer, Lenore J   Moitry, Marie   Perola, Markus   Rasheed, Asif   Rosendaal, Frits R   Rosengren, Anders H   Sladek, Rob   Smith, Blair H   Varma, Rohit   Willer, Cristen J   Dupuis, Josée   Franks, Paul W   Groop, Leif   Hansen, Torben   Hattersley, Andrew T   Ingelsson, Erik   Karpe, Fredrik   Kooner, Jaspal Singh   Laakso, Markku   Lind, Lars   Liu, Yongmei   Loos, Ruth J F   Mook-Kanamori, Dennis   Palmer, Colin N A   Pankow, James S   Rauramaa, Rainer   Sattar, Naveed   Soranzo, Nicole   Stumvoll, Michael   Barroso, Inês   Saleheen, Danish   Rotter, Jerome I Published in Nature genetics (01.04.2018)

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

by Vissers, L.E.L.M   Nimwegen, K.J.M. van   Schieving, J.H   Kamsteeg, E.J   Kleefstra, T   Yntema, H.G   Pfundt, R.P   Wilt, G.J. van der   Krabbenborg, L   Brunner, H.G   Burg, S. van der   Grutters, J.P   Veltman, J.A   Willemsen, M.A.A.P Published in Genetics in medicine (2017)

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

by Mackley, Michael P   Fletcher, Benjamin   Parker, Michael   Watkins, Hugh   Ormondroyd, Elizabeth Published in Genetics in medicine (01.03.2017)

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

by Satterstrom, F. Kyle   Breen, Michael S   Grove, Jakob   Klei, Lambertus   Mulhern, Maureen S   Xu, Xinyi   Norman, Utku   Brand, Harrison   Schwartz, Grace   Guerrero, Elizabeth E   Barbosa, Mafalda   Bybjerg-Grauholm, Jonas   Carracedo, Angel   Chan, Marcus C.Y   Chiocchetti, Andreas G   Coon, Hilary   Dalla Bernardina, Bernardo   Domenici, Enrico   Dong, Shan   González-Peñas, Javier   Guter, Stephen   He, Xin   Hertz-Picciotto, Irva   Hougaard, David M   Ionita-Laza, Iuliana   Jacob, Suma   Jamison, Jesslyn   Jugessur, Astanand   Kolevzon, Alexander   Kushima, Itaru   Lee, So Lun   Lehtimäki, Terho   Lim, Elaine T   Lipkin, W. Ian   Lopergolo, Diego   Lopes, Fátima   Ludena, Yunin   Maciel, Patricia   Manoach, Dara S   Meiri, Gal   Menashe, Idan   Miller, Judith   Muglia, Pierandrea   Neale, Benjamin M   Nordentoft, Merete   Ozaki, Norio   Palotie, Aarno   Parellada, Mara   Passos-Bueno, Maria Rita   Persico, Antonio M   Pessah, Isaac   Puura, Kaija   Renieri, Alessandra   Riberi, Evelise   Robinson, Elise B   Samocha, Kaitlin E   Sandin, Sven   Schellenberg, Gerry   Schmitt, Lauren   Silva, Isabela M.W   Singh, Tarjinder   Smith, Moyra   Soares, Gabriela   Susser, Ezra   Szatmari, Peter   Tang, Lara   Tassone, Flora   Teufel, Karoline   Trelles, Maria del Pilar   Werge, Thomas   Wigdor, Emilie M   Yu, Timothy W   Zachi, Elaine   Agerbo, Esben   Als, Thomas Damm   Bækvad-Hansen, Marie   Belliveau, Rich   Cerrato, Felecia   Chambert, Kimberly   Churchhouse, Claire   Dumont, Ashley   Hauberg, Mads Engel   Howrigan, Daniel P   Maller, Julian   Mattheisen, Manuel   Moran, Jennifer   Pallesen, Jonatan   Poulsen, Jesper Buchhave   Ripke, Stephan   Schork, Andrew J   Thompson, Wesley K   Walters, Raymond K   Cook, Edwin H   Gallagher, Louise   Gill, Michael   Sutcliffe, James S   Zwick, Michael E   State, Matthew W   Cutler, David J   Daly, Mark J Published in Cell (Cambridge) (06.02.2020)

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

by Sawyer, S.L   Hartley, T   Dyment, D.A   Beaulieu, C.L   Schwartzentruber, J   Smith, A   Bedford, H.M   Bernard, G   Bernier, F.P   Brais, B   Bulman, D.E   Warman Chardon, J   Chitayat, D   Deladoëy, J   Fernandez, B.A   Frosk, P   Geraghty, M.T   Gerull, B   Gibson, W   Gow, R.M   Graham, G.E   Green, J.S   Heon, E   Horvath, G   Innes, A.M   Jabado, N   Kim, R.H   Koenekoop, R.K   Khan, A   Lehmann, O.J   Mendoza‐Londono, R   Michaud, J.L   Nikkel, S.M   Penney, L.S   Polychronakos, C   Richer, J   Rouleau, G.A   Samuels, M.E   Siu, V.M   Suchowersky, O   Tarnopolsky, M.A   Yoon, G   Zahir, F.R   Majewski, J   Boycott, K.M Published in Clinical genetics (01.03.2016)

Before progressing from "exomes" to "genomes"… don't forget splicing variants

by Shaikh, Samiha S   Nahorski, Michael S   Rai, Harjeet   Woods, C Geoffrey Published in European journal of human genetics : EJHG (01.11.2018)

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

by Helbig, Katherine L   Farwell Hagman, Kelly D   Shinde, Deepali N   Mroske, Cameron   Powis, Zöe   Li, Shuwei   Tang, Sha   Helbig, Ingo Published in Genetics in medicine (01.09.2016)

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole‐genome sequencing as a first‐tier genetic test

by Lionel, Anath C   Costain, Gregory   Monfared, Nasim   Walker, Susan   Reuter, Miriam S   Hosseini, S Mohsen   Thiruvahindrapuram, Bhooma   Merico, Daniele   Jobling, Rebekah   Nalpathamkalam, Thomas   Pellecchia, Giovanna   Sung, Wilson W L   Wang, Zhuozhi   Bikangaga, Peter   Boelman, Cyrus   Carter, Melissa T   Cordeiro, Dawn   Cytrynbaum, Cheryl   Dell, Sharon D   Dhir, Priya   Dowling, James J   Heon, Elise   Hewson, Stacy   Hiraki, Linda   Inbar-Feigenberg, Michal   Klatt, Regan   Kronick, Jonathan   Laxer, Ronald M   Licht, Christoph   MacDonald, Heather   Mercimek-Andrews, Saadet   Mendoza-Londono, Roberto   Piscione, Tino   Schneider, Rayfel   Schulze, Andreas   Silverman, Earl   Siriwardena, Komudi   Snead, O Carter   Sondheimer, Neal   Sutherland, Joanne   Vincent, Ajoy   Wasserman, Jonathan D   Weksberg, Rosanna   Shuman, Cheryl   Carew, Chris   Szego, Michael J   Hayeems, Robin Z   Basran, Raveen   Stavropoulos, Dimitri J   Ray, Peter N   Bowdin, Sarah   Meyn, M Stephen   Cohn, Ronald D   Scherer, Stephen W   Marshall, Christian R Published in Genetics in medicine (01.04.2018)

Effect of inbreeding on intellectual disability revisited by trio sequencing

by Kahrizi, Kimia   Hu, Hao   Hosseini, Masoumeh   Kalscheuer, Vera M   Fattahi, Zohreh   Beheshtian, Maryam   Suckow, Vanessa   Mohseni, Marzieh   Lipkowitz, Bettina   Mehvari, Sepideh   Mehrjoo, Zohreh   Akhtarkhavari, Tara   Ghaderi, Zhila   Rahimi, Maryam   Arzhangi, Sanaz   Jamali, Payman   Falahat Chian, Milad   Nikuei, Pooneh   Sabbagh Kermani, Farahnaz   Sadeghinia, Farnaz   Jazayeri, Roshanak   Tonekaboni, S. Hassan   Khoshaeen, Atefeh   Habibi, Haleh   Pourfatemi, Fatemeh   Mojahedi, Faezeh   Khodaie‐Ardakani, Mohammad‐Reza   Najafipour, Reza   Wienker, Thomas F   Najmabadi, Hossein   Ropers, Hans‐Hilger Published in Clinical genetics (01.01.2019)