Delineation of New Disorders and Phenotypic Expansion of Known Disorders Through Whole Exome Sequencing

作者： Joseph A. Picoraro , Wendy K. Chung

关键词:

摘要: Whole-exome sequencing (WES) has revolutionized gene discovery in human disease, drastically improving detection of pathogenic variation, expanding the delineation molecular networks, enriching characterization genomic architecture and refining genotype–endophenotype distinctions heterogeneous phenotypes. WES studies, often aided by collaborative consortia, have proven particularly effective identifying genetic etiology autism, epilepsy, neurodevelopmental disabilities, brain malformations, congenital heart diaphragmatic hernia, multiple anomalies, rare diseases, extreme phenotypes common diseases. Analysis proband parents with a trio design identification de novo events their contribution to extending analysis sporadic conditions beyond prior studies using comparative hybridization chromosome microarrays. demonstrable utility clinical setting impactful diagnostic yield across many diseases is increasingly being adopted for its unbiased, efficient, accurate ability investigate basis disease.

springer.com 本地加速

springer.com PDF 下载加速

sci-hub.se PDF 下载加速

参考文章(105)

Heidi S. Lumish, Yaping Yang, Fan Xia, Ashley Wilson, Wendy K. Chung, The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations. JIMD reports. ,vol. 16, pp. 75- 79 ,(2014) , 10.1007/8904_2014_322

Mitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei, Jun Tohyama, Mitsuhiro Kato, Hiroki Kitaura, Masaaki Shiina, Hiroshi Shirozu, Hiroshi Masuda, Keisuke Watanabe, Chihiro Ohba, Yoshinori Tsurusaki, Noriko Miyake, Yingjun Zheng, Tatsuhiro Sato, Hirohide Takebayashi, Kazuhiro Ogata, Shigeki Kameyama, Akiyoshi Kakita, Naomichi Matsumoto, Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb Annals of Neurology. ,vol. 78, pp. 375- 386 ,(2015) , 10.1002/ANA.24444

J. Nakajima, N. Okamoto, J. Tohyama, M. Kato, H. Arai, O. Funahashi, Y. Tsurusaki, M. Nakashima, H. Kawashima, H. Saitsu, N. Matsumoto, N. Miyake, De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. Clinical Genetics. ,vol. 87, pp. 356- 361 ,(2015) , 10.1111/CGE.12394

Richard Gill, Yee Him Cheung, Yufeng Shen, Patricia Lanzano, Nazrat M. Mirza, Svetlana Ten, Noel K. Maclaren, Roja Motaghedi, Joan C. Han, Jack A. Yanovski, Rudolph L. Leibel, Wendy K. Chung, Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity. Obesity. ,vol. 22, pp. 576- 584 ,(2014) , 10.1002/OBY.20492

Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amron, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Samuel F. Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy Glauser, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Ruben Kuzniecky, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Ruth Ottman, Stephen Petrou, Slavé Petrovski, Annapurna Poduri, Elizabeth K. Ruzzo, Ingrid E. Scheffer, Elliott Sherr, De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies American Journal of Human Genetics. ,vol. 95, pp. 360- 370 ,(2014) , 10.1016/J.AJHG.2014.08.013

Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han, Erin L Heinzen, Yuki Hitomi, Katherine B Howell, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Yi-Fan Lu, Maura RZ Madou, Anthony G Marson, Heather C Mefford, Sahar Esmaeeli Nieh, Terence J O'Brien, Ruth Ottman, Slavé Petrovski, Annapurna Poduri, Elizabeth K Ruzzo, Ingrid E Scheffer, Elliott H Sherr, Christopher J Yuskaitis, Epilepsy Phenome, Genome Project, Bassel Abou-Khalil, Brian K Alldredge, Jocelyn F Bautista, Alex Boro, Gregory D Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Simon Glynn, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Shannon M McGuire, Paul V Motika, Edward J Novotny, Juliann M Paolicchi, Jack M Parent, Kristen Park, Renée A Shellhaas, Jerry J Shih, Rani Singh, Joseph Sirven, Michael C Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer, Epi4K Consortium, De novo mutations in epileptic encephalopathies Nature. ,vol. 501, pp. 217- 221 ,(2013) , 10.1038/NATURE12439

Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A Radu Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, Patricia Bignell, Edward Blair, Veronica J Buckle, Katherine Bull, Ondrej Cais, Holger Cario, Helen Chapel, Richard R Copley, Richard Cornall, Jude Craft, Karin Dahan, Emma E Davenport, Calliope Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D Gilbert, Anne Goriely, Angie Green, Ingo H Greger, Russell Grocock, Anja V Gruszczyk, Robert Hastings, Edouard Hatton, Doug Higgs, Adrian Hill, Chris Holmes, Malcolm Howard, Linda Hughes, Peter Humburg, David Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C Knight, Jonathan Krohn, Sarah Lamble, Craig Langman, Lorne Lonie, Joshua Luck, Davis McCarthy, Simon J McGowan, Mary Frances McMullin, Kerry A Miller, Lisa Murray, Andrea H Németh, M Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Bang Oturai, Alistair Pagnamenta, Smita Y Patel, Melanie Percy, Nayia Petousi, Paolo Piazza, Sian E Piret, Guadalupe Polanco-Echeverry, Niko Popitsch, Fiona Powrie, Chris Pugh, Lynn Quek, Peter A Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A Van Schouwenburg, Anna Schuh, Earl Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V Thakker, Ian Tomlinson, Amy Trebes, Stephen RF Twigg, Holm H Uhlig, Paresh Vyas, Tim Vyse, Steven A Wall, Hugh Watkins, Michael P Whyte, Lorna Witty, Ben Wright, Chris Yau, David Buck, Sean Humphray, Peter J Ratcliffe, John I Bell, Andrew OM Wilkie, David Bentley, Peter Donnelly, Gilean McVean, None, Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Nature Genetics. ,vol. 47, pp. 717- 726 ,(2015) , 10.1038/NG.3304

Charles A. LeDuc, Elizabeth E. Crouch, Ashley Wilson, Jay Lefkowitch, Mirjam M. C. Wamelink, Cornelis Jakobs, Gajja S. Salomons, Xiaoyun Sun, Yufeng Shen, Wendy K. Chung, Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency JIMD Reports. ,vol. 12, pp. 121- 127 ,(2013) , 10.1007/8904_2013_254

Lan Yu, Ashley D. Sawle, Julia Wynn, Gudrun Aspelund, Charles J. Stolar, Marc S. Arkovitz, Douglas Potoka, Kenneth S. Azarow, George B. Mychaliska, Yufeng Shen, Wendy K. Chung, Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia Human Molecular Genetics. ,vol. 24, pp. 4764- 4773 ,(2015) , 10.1093/HMG/DDV196

10.

Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, Willemijn Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gecz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart L. Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton-Brown, Michael J. Parker, Alex Henderson, Sally A. Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury-Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster-Barber, Antonie D. Kline, Amy Kimball, Elaine Zackai, Margaret Harr, Joyce Fox, Julie McLaughlin, Kristin Lindstrom, Katrina M. Haude, Kees van Roozendaal, Han Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera Kalscheuer, Sarju G. Mehta, Nicholas Katsanis, Tjitske Kleefstra, Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling American Journal of Human Genetics. ,vol. 97, pp. 343- 352 ,(2015) , 10.1016/J.AJHG.2015.07.004

Delineation of New Disorders and Phenotypic Expansion of Known Disorders Through Whole Exome Sequencing

来源期刊

我的账户

Delineation of New Disorders and Phenotypic Expansion of Known Disorders Through Whole Exome Sequencing

来源期刊

相似文章 2

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

我的账户