Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Kristen M, Laricchia"'
Autor:
Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai-Man Chan, Lydia N. Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis-Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia Lee, Kristen M. Laricchia, Brenda J. Barry, Victoria R. Bradford, Julie A. Jurgens, Eleina M. England, Monkol Lek, Daniel G. MacArthur, Eunjung Alice Lee, Michael E. Talkowski, Harrison Brand, Len A. Pennacchio, Elizabeth C. Engle
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-26 (2024)
Abstract Unsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification
Externí odkaz:
https://doaj.org/article/1d31f2afe5204250bcedb785593a825f
Autor:
Chaozhe Yang, Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun, Monkol Lek, Kristen M. Laricchia, Hanan M. Fathy, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Lisa M. Guay-Woodford
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1 cpk/cpk (cpk) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD). Cystin, the protein product of Cys1, is expressed in the primary apica
Externí odkaz:
https://doaj.org/article/13bb7bdf8ff344ba8c2f370bc275a2ab
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15
https://doi.org/10.1016/j.gim.2021.12.005
https://doi.org/10.1016/j.gim.2021.12.005
Autor:
Kristen M, Laricchia, Nicole J, Lake, Nicholas A, Watts, Megan, Shand, Andrea, Haessly, Laura, Gauthier, David, Benjamin, Eric, Banks, Jose, Soto, Kiran, Garimella, James, Emery, Heidi L, Rehm, Daniel G, MacArthur, Grace, Tiao, Monkol, Lek, Vamsi K, Mootha, Sarah E, Calvo
Publikováno v:
Genome Research. 32:569-582
Genomic databases of allele frequency are extremely helpful for evaluating clinical variants of unknown significance; however, until now, databases such as the Genome Aggregation Database (gnomAD) have focused on nuclear DNA and have ignored the mito
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a816ff7f4847845007a7049e60937c4
https://doi.org/10.1101/gr.276013.121
https://doi.org/10.1101/gr.276013.121
Autor:
Nicole J. Lake, Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao, Daniela Puiu, Alison G. Compton, Shannon Cowie, John Christodoulou, David R. Thorburn, Hongyu Zhao, Dan E. Arking, Shamil R. Sunyaev, Monkol Lek
Mitochondrial DNA (mtDNA) has an important, yet often overlooked, role in health and disease. Constraint models quantify the removal of deleterious variation from the population by selection, representing a powerful tool for identifying genetic varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f932b4885692cdddec5d7f0db2a2e5fb
https://doi.org/10.1101/2022.12.16.520778
https://doi.org/10.1101/2022.12.16.520778
Autor:
Danielle J. Owen, David FitzPatrick, Nina Mann, Stuart B. Bauer, Ilona Krey, Heather C Mefford, Jacob Zyskind, Roger Fick, Ana C. Onuchic-Whitford, Floor A. M. Duijkers, Etienne Coyaud, Simon E. Fisher, Juliann M. Savatt, Richard P. Lifton, Isabel Ottlewski, Amelie T. van der Ven, Peter J. Hulick, Nancy Rodig, Michelle A. Baum, Marielle Alders, Elysa J. Marco, Konrad Platzer, Ghaleb Daouk, Hadas Ityel, Eva H. Brilstra, Ian A. Glass, Heiko Reutter, Adda L. Graham-Paquin, Makiko Nakayama, Michael A. J. Ferguson, Amy Kolb, Weining Lu, Florian Buerger, Prabha Senguttuvan, Marcia Ferguson, Ronen Schneider, Isabelle Thiffault, Hila Milo Rasouly, Verena Klämbt, Tobias Bartolomaeus, Evan Chen, Mao Youying, Amar J. Majmundar, Jia Rao, Carrie Costin, Dina Ahram, Ali G. Gharavi, Lot Snijders Blok, Avram Z. Traum, Franziska Kause, Konstantin Deutsch, Arianna Vino, Dervla M. Connaughton, Antonie D. Kline, Deborah R. Stein, Daanya Salmanullah, Maxime Bouchard, Estelle M.N. Laurent, Audrey Squire, Daniel G. MacArthur, Kristen M. Laricchia, Asaf Vivante, Thomas M. Kitzler, Jonathan St-Germain, Brian Raught, Heidi L. Rehm, Ellen van Binsbergen, Chen Han Wilfred Wu, Caroline M. Kolvenbach, Monkol Lek, Selvin Kumar, Jing Chen, Mustafa K. Khokha, Ankana Daga, Hong Xu, Andrew D. Sharrocks, N. V. Shcherbakova, Simone Sanna-Cherchi, Inna S. Povolotskaya, Tze Y Lim, Johanna M. Rieke, Katrina M. Dipple, Gabriel C. Dworschak, Michael J. Somers, Tobias Hermle, Stefan Kohl, Steve Seltzsam, Victoria Y. Voinova, Shirlee Shril, Ingrid M. Wentzensen, Daw Yang Hwang, Velibor Tasic, Shrikant Mane, Jonathan Marquez, Friedhelm Hildebrandt, Rufeng Dai, Paulien A Terhal, Loai A. Eid, Thomas D. Challman
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742
International audience; Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the disco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0bcf100f3cbcb4de0590d4409d43436
http://www.scopus.com/inward/record.url?scp=85091260805&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85091260805&partnerID=8YFLogxK
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:
Nicholas A. Watts, Monkol Lek, James Emery, Sarah E. Calvo, Grace Tiao, Daniel G. MacArthur, Eric Banks, Laura D. Gauthier, Vamsi K. Mootha, Andrea Haessly, David Benjamin, Megan Shand, Jose Soto, Heidi L. Rehm, Nicole J. Lake, Kristen M. Laricchia, Kiran V. Garimella
Databases of allele frequency are extremely helpful for evaluating clinical variants of unknown significance; however, until now, genetic databases such as the Genome Aggregation Database (gnomAD) have ignored the mitochondrial genome (mtDNA). Here w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2b4fb87179c644477bd3082cbdd8d21
https://doi.org/10.1101/2021.07.23.453510
https://doi.org/10.1101/2021.07.23.453510
Autor:
Paul Cannon, Kalpana M. Merchant, Jamie L. Marshall, Jung-Jin Lee, Nicola Whiffin, Danish Saleheen, Anna Guan, Tõnu Esko, Qingbo Wang, Aki S. Havulinna, Cole Whiteman, Daniel G. MacArthur, Christina M. Hultman, Carlos N. Pato, Ruth J. F. Loos, Marco A. S. Baptista, Babak Alipanahi, Mark J. Daly, Kristen M. Laricchia, Irina M. Armean, Aaron Kleinman, James S. Ware, Beryl B. Cummings, Nicholas M Quaife, Laurent C. Francioli, Lili Milani, Konrad J. Karczewski, Jessica Alföldi, Julia K. Goodrich, Patrick F. Sullivan, Genome Aggregation Database Production Team, Eric Vallabh Minikel, Peter Morrison, Aarno Palotie, Bozenna Iliadou, Joanne B. Cole, Michele T. Pato, Girish N. Nadkarni
Analysis of large genomic datasets, including gnomAD, reveals that partial LRRK2 loss of function is not strongly associated with diseases, serving as an example of how human genetics can be leveraged for target validation in drug discovery. Human ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c561587579bf49d7e8186937ea3476
http://hdl.handle.net/10138/317759
http://hdl.handle.net/10138/317759
Autor:
Harold Z. Wang, Yii-Der Ida Chen, Elise Valkanas, Michael E. Talkowski, Kent D. Taylor, Xuefang Zhao, Henry J. Lin, Konrad J. Karczewski, Ryan L. Collins, Eric Banks, Benjamin M. Neale, Lauren Margolin, Christopher W. Whelan, Valentin Ruano-Rubio, Laura D. Gauthier, Stacey Gabriel, Harrison Brand, Namrata Gupta, Jessica Alföldi, Ruchi Munshi, Yongqing Huang, Daniel G. MacArthur, Laurent C. Francioli, Chad Nusbaum, Eric S. Lander, Mark J. Daly, Nicholas A. Watts, Anthony A. Philippakis, Matthew Solomonson, Sekar Kathiresan, Genome Aggregation Database Production Team, Wendy S. Post, Jack Fu, Alexander Baumann, Kristen M. Laricchia, Amit Khera, Ted Brookings, Anne H. O’Donnell-Luria, Jerome I. Rotter, Matthew R. Stone, Chelsea Lowther, Christine Stevens, Caroline N. Cusick, Ted Sharpe, Grace Tiao, Stephen S. Rich, Mark Walker
Publikováno v:
Nature, vol 581, iss 7809
Nature
Nature
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5850f851436ab9954eeebae9e54903b
https://escholarship.org/uc/item/25h6t9dp
https://escholarship.org/uc/item/25h6t9dp