NAA10-related syndrome by Yiyang Wu, Gholson J. Lyon

Get full text

Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability by Jing Y. Hsu, Daniah H. Ibrahim, Riza Ali, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon

Get full text

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person by Jason A. O’Rawe, Han Fang, Shawn Rynearson, Reid Robison, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Martin G. Reese, Gholson J. Lyon

Get full text

Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice. by Gholson J Lyon, Joseph Longo, Andrew Garcia, Fatima Inusa, Elaine Marchi, Daniel Shi, Max Dörfel, Thomas Arnesen, Rafael Aldabe, Scott Lyons, Melissa A Nashat, David Bolton

Get full text

Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice by Gholson J. Lyon, Joseph Longo, Andrew Garcia, Fatima Inusa, Elaine Marchi, Daniel Shi, Max Dörfel, Thomas Arnesen, Rafael Aldabe, Scott Lyons, Melissa A. Nashat, David Bolton

Get full text

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing by Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley, Peter N. Robinson

Get full text

A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases by Olivia Kim-McManus, Joseph G. Gleeson, Laurence Mignon, Amena Smith Fine, Winston Yan, Nicole Nolen, Scott Demarest, Elizabeth Berry-Kravis, Richard Finkel, Stefanie Leonard, Samuel Finlayson, Erika Augustine, Gholson J. Lyon, Rebecca Schule, Timothy Yu

Get full text

Long-read sequencing and de novo assembly of a Chinese genome by Lingling Shi, Yunfei Guo, Chengliang Dong, John Huddleston, Hui Yang, Xiaolu Han, Aisi Fu, Quan Li, Na Li, Siyi Gong, Katherine E. Lintner, Qiong Ding, Zou Wang, Jiang Hu, Depeng Wang, Feng Wang, Lin Wang, Gholson J. Lyon, Yongtao Guan, Yufeng Shen, Oleg V. Evgrafov, James A. Knowles, Francoise Thibaud-Nissen, Valerie Schneider, Chack-Yung Yu, Libing Zhou, Evan E. Eichler, Kwok-Fai So, Kai Wang

Get full text

Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway by Hyae Yon Kweon, Mi-Ni Lee, Max Dorfel, Seungwoon Seo, Leah Gottlieb, Thomas PaPazyan, Nina McTiernan, Rasmus Ree, David Bolton, Andrew Garcia, Michael Flory, Jonathan Crain, Alison Sebold, Scott Lyons, Ahmed Ismail, Elaine Marchi, Seong-keun Sonn, Se-Jin Jeong, Sejin Jeon, Shinyeong Ju, Simon J Conway, Taesoo Kim, Hyun-Seok Kim, Cheolju Lee, Tae-Young Roh, Thomas Arnesen, Ronen Marmorstein, Goo Taeg Oh, Gholson J Lyon

Get full text

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative by Christoffer Nellåker, Christoffer Nellåker, Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Gareth Baynam, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Evan E. Eichler, Michael Ferlaino, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Nina Hallowell, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium

Get full text

Synaptic processes and immune-related pathways implicated in Tourette syndrome by Fotis Tsetsos, Dongmei Yu, Jae Hoon Sul, Alden Y. Huang, Cornelia Illmann, Lisa Osiecki, Sabrina M. Darrow, Matthew E. Hirschtritt, Erica Greenberg, Kirsten R. Muller-Vahl, Manfred Stuhrmann, Yves Dion, Guy A. Rouleau, Harald Aschauer, Mara Stamenkovic, Monika Schlögelhofer, Paul Sandor, Cathy L. Barr, Marco A. Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Anke Hinney, Robert A. King, Thomas V. Fernandez, Csaba Barta, Zsanett Tarnok, Peter Nagy, Christel Depienne, Yulia Worbe, Andreas Hartmann, Cathy L. Budman, Renata Rizzo, Gholson J. Lyon, William M. McMahon, James R. Batterson, Danielle C. Cath, Irene A. Malaty, Michael S. Okun, Cheston Berlin, Douglas W. Woods, Paul C. Lee, Joseph Jankovic, Mary M. Robertson, Donald L. Gilbert, Lawrence W. Brown, Barbara J. Coffey, Andrea Dietrich, Pieter J. Hoekstra, Samuel Kuperman, Samuel H. Zinner, Michael Wagner, James A. Knowles, A. Jeremy Willsey, Jay A. Tischfield, Gary A. Heiman, Nancy J. Cox, Nelson B. Freimer, Benjamin M. Neale, Lea K. Davis, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Peristera Paschou, on behalf of the Tourette Association of America International Consortium for Genetics, Cathy L. Barr, James R. Batterson, Cheston Berlin, Cathy L. Budman, Danielle C. Cath, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Erica Greenberg, Matthew E. Hirschtritt, Alden Y. Huang, Cornelia Illmann, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, Carol A. Mathews, William M. McMahon, Benjamin M. Neale, Michael S. Okun, Lisa Osiecki, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Harvey S. Singer, Jan H. Smit, Jae Hoon Sul, Dongmei Yu, the Gilles de la Tourette GWAS Replication Initiative, Harald Aschauer Harald Aschauer, Csaba Barta, Cathy L. Budman, Danielle C. Cath, Christel Depienne, Andreas Hartmann, Johannes Hebebrand, Anastasios Konstantinidis, Carol A. Mathews, Kirsten Müller-Vahl, Peter Nagy, Markus M. Nöthen, Peristera Paschou, Renata Rizzo, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Monika Schlögelhofer, Mara Stamenkovic, Manfred Stuhrmann, Fotis Tsetsos, Zsanett Tarnok, Tomasz Wolanczyk, Yulia Worbe, the Tourette International Collaborative Genetics Study, Lawrence Brown, Keun-Ah Cheon, Barbara J. Coffey, Andrea Dietrich, Thomas V. Fernandez, Blanca Garcia-Delgar, Donald Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Gary A. Heiman, Isobel Heyman, Pieter J. Hoekstra, Chaim Huyser, Young Key Kim, Young-Shin Kim, Robert A. King, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L. Leventhal, Marcos Madruga-Garrido, Pablo Mir, Astrid Morer, Alexander Münchau, Kerstin J. Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Jay A. Tischfield, A. Jeremy Willsey, Samuel Zinner, and the Psychiatric Genomics Consortium Tourette Syndrome Working Group, Harald Aschauer, Cathy L. Barr, Csaba Barta, James R. Batterson, Cheston Berlin, Lawrence Brown, Cathy L. Budman, Danielle C. Cath, Barbara J. Coffey, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Christel Depienne, Andrea Dietrich, Yves Dion, Thomas Fernandez, Nelson B. Freimer, Donald Gilbert, Marco A. Grados, Erica Greenberg, Andreas Hartmann, Johannes Hebebrand, Gary Heiman, Matthew E. Hirschtritt, Pieter Hoekstra, Alden Y. Huang, Cornelia Illmann, Joseph Jankovic, Robert A. King, Samuel Kuperman, Paul C. Lee, Gholson J. Lyon, Irene A. Malaty, Carol A. Mathews, William M. McMahon, Kirsten Müller-Vahl, Peter Nagy, Benjamin M. Neale, Markus M. Nöthen, Michael S. Okun, Lisa Osiecki, Peristera Paschou, Renata Rizzo, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Jeremiah M. Scharf, Monika Schlögelhofer, Harvey S. Singer, Mara Stamenkovic, Manfred Stuhrmann, Jae Hoon Sul, Zsanett Tarnok, Jay Tischfield, Fotis Tsetsos, A. Jeremy Willsey, Douglas Woods, Yulia Worbe, Dongmei Yu, Samuel Zinner

Get full text