Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Louw Smith"'
Autor:
Donna M, Werling, Harrison, Brand, Joon-Yong, An, Matthew R, Stone, Lingxue, Zhu, Joseph T, Glessner, Ryan L, Collins, Shan, Dong, Ryan M, Layer, Eirene, Markenscoff-Papadimitriou, Andrew, Farrell, Grace B, Schwartz, Harold Z, Wang, Benjamin B, Currall, Xuefang, Zhao, Jeanselle, Dea, Clif, Duhn, Carolyn A, Erdman, Michael C, Gilson, Rachita, Yadav, Robert E, Handsaker, Seva, Kashin, Lambertus, Klei, Jeffrey D, Mandell, Tomasz J, Nowakowski, Yuwen, Liu, Sirisha, Pochareddy, Louw, Smith, Michael F, Walker, Matthew J, Waterman, Xin, He, Arnold R, Kriegstein, John L, Rubenstein, Nenad, Sestan, Steven A, McCarroll, Benjamin M, Neale, Hilary, Coon, A Jeremy, Willsey, Joseph D, Buxbaum, Mark J, Daly, Matthew W, State, Aaron R, Quinlan, Gabor T, Marth, Kathryn, Roeder, Bernie, Devlin, Michael E, Talkowski, Stephan J, Sanders
Publikováno v:
Nature genetics. 50(5)
Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to evaluate rare and de novo noncoding single-nucleotide var
Autor:
Donna M. Werling, Ryan M. Layer, Robert E. Handsaker, Matthew W. State, Carolyn A. Erdman, Tomasz J. Nowakowski, Michael C. Gilson, Stephen Sanders, Arnold R. Kriegstein, Eirene Markenscoff-Papadimitriou, Sirisha Pochareddy, Lambertus Klei, A. Jeremy Willsey, Seva Kashin, Xin He, Harold Z. Wang, Michael E. Talkowski, Shan Dong, Michael F. Walker, Lingxue Zhu, Bernie Devlin, Steven A. McCarroll, Kathryn Roeder, Benjamin Currall, Matthew J. Waterman, Clif Duhn, John L.R. Rubenstein, Joseph D. Buxbaum, Gabor T. Marth, Aaron R. Quinlan, Matthew R. Stone, Louw Smith, Xuefang Zhao, Mark J. Daly, Joon Yong An, Harrison Brand, Joseph T. Glessner, Benjamin M. Neale, Jeffrey D. Mandell, Andrew Farrell, Nenad Sestan, Yuwen Liu, Grace Schwartz, Hilary Coon, Jeanselle Dea, Rachita Yadav, Ryan L. Collins
Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to evaluate rare and de novo noncoding single-nucleotide var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d3fdaa26ec09a999977aeaccd0664d9
https://europepmc.org/articles/PMC5961723/
https://europepmc.org/articles/PMC5961723/
Autor:
Eric Fombonne, Stephen Sanders, Rita M. Cantor, Bernie Devlin, Shan Dong, Kathryn Roeder, Catherine Lord, Mack Y. Su, David H. Ledbetter, Arthur P. Goldberg, Vanessa H. Bal, Nicole A. Teran, Eric M. Morrow, Cai Jinlu, James S. Sutcliffe, Michael F. Walker, Jeffrey D. Mandell, Edwin H. Cook, Elise B. Robinson, Mark J. Daly, Kaitlin E. Samocha, Xin He, Christa Lese Martin, Timothy W. Yu, Donna M. Werling, Donna M. Martin, Arthur L. Beaudet, Michael E. Talkowski, Michael T. Murtha, Joseph D. Buxbaum, John F. Keaney, Dorothy E. Grice, A. Ercument Cicek, A. Jeremy Willsey, Somer L. Bishop, Christopher S. Poultney, Lambertus Klei, Matthew W. State, Daniel Moreno-De-Luca, Louw Smith, A. Gulhan Ercan-Sencicek, Shrikant Mane, Tor Solli-Nowlan, Christopher A. Walsh, Daniel H. Geschwind, Jennifer K. Lowe
Publikováno v:
Neuron
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q
Autor:
A. Jeremy Willsey, Thomas V. Fernandez, Dongmei Yu, Robert A. King, Andrea Dietrich, Jinchuan Xing, Stephan J. Sanders, Jeffrey D. Mandell, Alden Y. Huang, Petra Richer, Louw Smith, Shan Dong, Kaitlin E. Samocha, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jay A. Tischfield, Jeremiah M. Scharf, Matthew W. State, Gary A. Heiman, Mohamed Abdulkadir, Julia Bohnenpoll, Yana Bromberg, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Li Deng, Lonneke Elzerman, Odette Fründt, Blanca Garcia-Delgar, Erika Gedvilaite, Donald L. Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Andreas Lamerz, Bennett Leventhal, Andrea G. Ludolph, Claudia Lühr da Silva, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Alexander Münchau, Tara L. Murphy, Cara Nasello, Thaïra J.C. Openneer, Kerstin J. Plessen, Veit Roessner, Stephan Sanders, Eun-Young Shin, Deborah A. Sival, Dong-Ho Song, Jungeun Song, Anne Marie Stolte, Nawei Sun, Jennifer Tübing, Frank Visscher, Michael F. Walker, Sina Wanderer, Shuoguo Wang, Martin Woods, Yeting Zhang, Anbo Zhou, Samuel H. Zinner, Cathy L. Barr, James R. Batterson, Cheston Berlin, Ruth D. Bruun, Cathy L. Budman, Danielle C. Cath, Sylvain Chouinard, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Matthew E. Hirschtritt, Cornelia Illmann, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. MaMahon, Michael S. Okun, Lisa Osiecki, David L. Pauls, Danielle Posthuma, Vasily Ramensky, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan Smit, Jae-Hoon Sul
Publikováno v:
Neuron, 94(3), 486-499.e9. Cell Press
Neuron, 94(3), 486-499. CELL PRESS
Tourette International Collaborative Genetics (TIC Genetics), Tourette Syndrome Association International Consortium for Genetics (TSAICG) & Tourette Syndrome Association International Consortium for Genetics (TSAICG) 2017, ' De Novo Coding Variants Are Strongly Associated with Tourette Disorder ', Neuron, vol. 94, no. 3, pp. 486-499.e9 . https://doi.org/10.1016/j.neuron.2017.04.024
Neuron, 94(3), 486-499. CELL PRESS
Tourette International Collaborative Genetics (TIC Genetics), Tourette Syndrome Association International Consortium for Genetics (TSAICG) & Tourette Syndrome Association International Consortium for Genetics (TSAICG) 2017, ' De Novo Coding Variants Are Strongly Associated with Tourette Disorder ', Neuron, vol. 94, no. 3, pp. 486-499.e9 . https://doi.org/10.1016/j.neuron.2017.04.024
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75bf2171326355ecbabd84b960987ed8
https://research.vumc.nl/en/publications/18bfb71f-ac38-4f98-a918-ec109167ddb0
https://research.vumc.nl/en/publications/18bfb71f-ac38-4f98-a918-ec109167ddb0
Autor:
Kathryn Roeder, Stephen Sanders, Joseph T. Glessner, Louw Smith, Neale Bm, Seva Kashin, Arnold R. Kriegstein, Bernie Devlin, Steven A. McCarroll, Tomasz J. Nowakowski, Benjamin Currall, Matthew W. State, Ryan M. Layer, Sirisha Pochareddy, Robert E. Handsaker, Eiriene-Chloe Markenscoff-Papadimitriou, Joseph D. Buxbaum, Shan Dong, Andrew Farrell, Jeffrey D. Mandell, Yuwen Liu, Xin He, Lambertus Klei, Lingxue Zhu, Grace Schwartz, Mark J. Daly, Joon Yong An, Michael C. Gilson, Harold Z. Wang, Mathew J Waterman, Michael E. Talkowski, Matthew R. Stone, Gabor T. Marth, Hilary Coon, A. Jeremy Willsey, Harrison Brand, Jeanselle Dea, Donna M. Werling, Ryan L. Collins, Clif Duhn, Nenad Sestan, John L.R. Rubenstein, Michael F. Walker, Carolyn A. Erdman, Aaron R. Quinlan
SummaryGenomic studies to date in autism spectrum disorder (ASD) have largely focused on newly arising mutations that disrupt protein coding sequence and strongly influence risk. We evaluate the contribution of noncoding regulatory variation across t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2b42051ba483a0caef84f6eb820e205