Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Emma Pierce-Hoffman"'
Autor:
Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Multi-nucleotide variants (MNV) are genetic variants in close proximity of each other on the same haplotype whose functional impact is difficult to predict if they reside in the same codon. Here, Wang et al. use the gnomAD dataset to assemble a catal
Externí odkaz:
https://doaj.org/article/053a200a4cea4fb997d382b7e041c377
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Autor:
Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21077-8.
Externí odkaz:
https://doaj.org/article/d976760a830d4bd1bd7c8f3c58d72666
Autor:
Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
Publikováno v:
Genet Med
PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and
Autor:
Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis
Publikováno v:
Am J Hum Genet
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, w
Autor:
Teresa Gidaro, Julien Durigneux, Emma Pierce-Hoffman, Fabio Catervi, Johann Böhm, Alan H. Beggs, Adnan Yuksel, Montse Olivé, Casie A. Genetti, Raul Juntas-Morales, Isabelle Duband-Goulet, Nicolas Deconinck, Norma B. Romero, Eva Cabet, Rocío-Nur Villar-Quiles, Asuman Koparir, Ana Ferreiro, Jocelyn Laporte, Xavière Lornage, Mireille Cossée, John Rendu, Sandra Coppens, Lara Servais
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Annals of neurology, 87 (2
Annals of Neurology, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Ann Neurol
Annals of Neurology, Wiley, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Annals of neurology, 87 (2
Annals of Neurology, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Ann Neurol
Objective: Recently, the ASC-1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Ou
Autor:
Anne H. O’Donnell-Luria, Monkol Lek, James S. Ware, Kristen M. Laricchia, Benjamin M. Neale, Stacey Donnelly, Irina M. Armean, Jack A. Kosmicki, Stacey Gabriel, Christopher Vittal, David Roazen, Daniel R. Rhodes, Charlotte Tolonen, Matthew Solomonson, Laura D. Gauthier, Qingbo Wang, Andrea Ganna, Raymond K. Walters, Konrad J. Karczewski, Steven Ferriera, Thibault Jeandet, Jessica Alföldi, Mark J. Daly, Kristen M. Connolly, Kristian Cibulskis, Sam Novod, Timothy Poterba, Jeff Gentry, Yossi Farjoun, Moriel Singer-Berk, Diane Kaplan, Harrison Brand, Cotton Seed, Kaitlin E. Samocha, Michael E. Talkowski, Laurent C. Francioli, Molly Schleicher, Miguel Covarrubias, Jessica X. Chong, Christopher Llanwarne, Kathleen Tibbetts, Andrea Saltzman, Beryl B. Cummings, Grace Tiao, Sanna Gudmundsson, Nikelle Petrillo, Nicholas A. Watts, Jose Soto, Arcturus Wang, Daniel G. MacArthur, Valentin Ruano-Rubio, Eric Banks, Daniel P. Birnbaum, Eleanor G. Seaby, Ruchi Munshi, Gordon Wade, Nicola Whiffin, Louis Bergelson, Namrata Gupta, Eleina M. England, Katherine Tashman, Ryan L. Collins, Zachary Zappala, Emma Pierce-Hoffman, Eric Vallabh Minikel, Ben Weisburd
Publikováno v:
Nature
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4282a8c49253b8d2aa58f13df5b003ff
https://eprints.soton.ac.uk/468341/
https://eprints.soton.ac.uk/468341/
Autor:
Zachary Zappala, Cotton Seed, Namrata Gupta, Kristen M. Laricchia, Daniel G. MacArthur, Nicholas A. Watts, Raymond K. Walters, Mark J. Daly, Yossi Farjoun, Andrea Ganna, Beryl B. Cummings, Ruchi Munshi, Grace Tiao, Laurent C. Francioli, Arcturus Wang, Valentin Ruano-Rubio, Eric Banks, Jessica X. Chong, Gordon Wade, Kathleen Tibbetts, Thibault Jeandet, Emma Pierce-Hoffman, Andrea Saltzman, Nicola Whiffin, Laura D. Gauthier, Ryan L. Collins, Eric Vallabh Minikel, Matthew Solomonson, Harrison Brand, Stacey Donnelly, Kaitlin E. Samocha, Qingbo Wang, Katherine Tashman, Diane Kaplan, Ben Weisburd, Christopher Vittal, Louis Bergelson, Charlotte Tolonen, Jessica Alföldi, Michael E. Talkowski, Stacey Gabriel, Kristian Cibulskis, Daniel P. Birnbaum, Steven Ferriera, Sam Novod, Kristen M. Connolly, Jeff Gentry, Christopher Llanwarne, Nikelle Petrillo, Eleanor G. Seaby, Benjamin M. Neale, Irina M. Armean, Jack A. Kosmicki, Timothy Poterba, David Roazen, Jose Soto, Molly Schleicher, Miguel Covarrubias, Konrad J. Karczewski, Daniel R. Rhodes, Monkol Lek, Moriel Singer-Berk, James S. Ware, Anne H. O’Donnell-Luria
SummaryGenetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes critical for an organism’s function will be depleted for such variants in natural populati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::546728f8451823a7b9c49a3bd20644a1
https://doi.org/10.1101/531210
https://doi.org/10.1101/531210
Autor:
Jack A. Kosmicki, Mark A. DePristo, Mark I. McCarthy, Patrick F. Sullivan, Laramie E. Duncan, Ryan Poplin, David Neil Cooper, Mitja I. Kurki, Aarno Palotie, Hong-Hee Won, Dermot P.B. McGovern, John Danesh, Jose C. Florez, Grace Tiao, Anne H. O’Donnell-Luria, Timothy Fennell, Gad Getz, Douglas M. Ruderfer, Joanne Berghout, Mark J. Daly, Monkol Lek, Daniel P. Howrigan, Stacey Gabriel, Daniel P. Birnbaum, Ami Levy Moonshine, Michael Boehnke, Ben Weisburd, Ruth McPherson, Christine Stevens, Dongmei Yu, Sekar Kathiresan, Andrew J. Hill, James G. Wilson, James S. Ware, Hugh Watkins, Benjamin M. Neale, Khalid Shakir, David Altshuler, María Teresa Tusié-Luna, Lorena Orozco, James Zou, Samuel A. Rose, Menachem Fromer, Jeremiah M. Scharf, Daniel G. MacArthur, Namrata Gupta, Pamela Sklar, Eric Vallabh Minikel, Steven A. McCarroll, Jaakko Tuomilehto, Jackie Goldstein, Ming T. Tsuang, Stacey Donnelly, Konrad J. Karczewski, Fengmei Zhao, Stephen J. Glatt, Ron Do, Nicole A. Deflaux, Adam Kiezun, Emma Pierce-Hoffman, Markku Laakso, Beryl B. Cummings, Pradeep Natarajan, Danish Saleheen, Karol Estrada, Peter D. Stenson, Manuel A. Rivas, Diego Ardissino, Kaitlin E. Samocha, Gina M. Peloso, Laura D. Gauthier, Eric Banks, Brett Thomas, Shaun Purcell, Taru Tukiainen, Valentin Ruano-Rubio, Christina M. Hultman, Jason Flannick, Roberto Elosua
Publikováno v:
Lek, M, Karczewski, K J, Minikel, E V, Samocha, K E, Posthuma, D & Exome Aggregation Consortium, U 2016, ' Analysis of protein-coding genetic variation in 60,706 humans ', Nature, vol. 536, no. 7616, pp. 285-291 . https://doi.org/10.1038/nature19057
Nature, 536(7616), 285-291. Nature Publishing Group
Nature, vol 536, iss 7616
Nature, 536(7616), 285-291. Nature Publishing Group
Nature, vol 536, iss 7616
SummaryLarge-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) sequence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d62da66cab8b3012619459d5ee3a67d5
https://doi.org/10.1038/nature19057
https://doi.org/10.1038/nature19057