Canlyniadau Chwilio - Chelsea Lowther

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  1. 1
    Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

    Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) gan Gordana Raca, Caroline Astbury, Andrea Behlmann, Mauricio De Castro, Scott E. Hickey, Ender Karaca, Chelsea Lowther, Erin Rooney Riggs, Bryce A. Seifert, Erik C. Thorland, Joshua L. Deignan

    Cyhoeddwyd 2022
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  2. 2
    Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

    Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature gan Chelsea Lowther, Gregory Costain, Dimitri J. Stavropoulos, Rebecca Melvin, Candice K. Silversides, Danielle M. Andrade, Joyce So, Hanna Faghfoury, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Cyhoeddwyd 2014
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  3. 3
    Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

    Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays gan Gregory Costain, A. C. Lionel, Daniele Merico, Patricia H. Forsythe, Kay Russell, Chelsea Lowther, Tracy J. Yuen, Janice Husted, Dimitrios J. Stavropoulos, Marsha Speevak, Eva W. C. Chow, C. R. Marshall, Stephen W. Scherer, A. S. Bassett

    Cyhoeddwyd 2013
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  4. 4
    Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

    Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot gan Miriam S. Reuter, Rebekah Jobling, Rajiv Chaturvedi, Roozbeh Manshaei, Gregory Costain, Tracy Heung, Meredith Curtis, S. Mohsen Hosseini, Eriskay Liston, Chelsea Lowther, Erwin Oechslin, Heinrich Sticht, Bhooma Thiruvahindrapuram, Spencer van Mil, Rachel M. Wald, Susan Walker, Christian R. Marshall, Candice K. Silversides, Stephen W. Scherer, Raymond H. Kim, Anne S. Bassett

    Cyhoeddwyd 2018
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  5. 5
    Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

    Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies gan Xuefang Zhao, Ryan L. Collins, Wan‐Ping Lee, Alexandra M. Weber, Yukyung Jun, Qihui Zhu, Ben Weisburd, Yongqing Huang, Peter A. Audano, Harold Wang, Mark Walker, Chelsea Lowther, Jack Fu, Mark Gerstein, Scott E. Devine, Tobias Marschall, Jan O. Korbel, Evan E. Eichler, Mark Chaisson, Charles Lee, Ryan E. Mills, Harrison Brand, Michael E. Talkowski

    Cyhoeddwyd 2021
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  6. 6
    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes gan Christina Halgren, Nete Munk Nielsen, Lusine Nazaryan‐Petersen, Asli Silahtaroglu, Ryan L. Collins, Chelsea Lowther, Susanne Kjærgaard, Morten Frisch, Maria Kirchhoff, Karen Brøndum‐Nielsen, Allan Lind-Thomsen, Yuan Mang, Zahra El-Schich, Claire A. Boring, Mana M. Mehrjouy, Peter K.A. Jensen, Christina Fagerberg, Lotte Krogh, Jan Hansen, Thue Bryndorf, Claus Hansen, Michael E. Talkowski, Mads Bak, Niels Tommerup, Iben Bache

    Cyhoeddwyd 2018
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  7. 7
    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression gan Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Małgorzata J.M. Nowaczyk, Lee‐Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Mok Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew J. Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, M. Elizabeth McCready, Anne S. Bassett

    Cyhoeddwyd 2016
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  8. 8
    Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders gan Anthony R Isles, Andrés Ingason, Chelsea Lowther, James Walters, Micha Gawlick, Gerald Stöber, Elliott Rees, Joanna Martin, Rosie B. Little, Harry G. Potter, Lyudmila Georgieva, Lucilla Pizzo, Norio Ozaki, Branko Aleksić, Itaru Kushima, Masashi Ikeda, Nakao Iwata, Douglas F. Levinson, Pablo V. Gejman, Jianxin Shi, Alan R. Sanders, Jubao Duan, Joseph Willis, Sanjay M. Sisodiya, Gregory Costain, Thomas Werge, Franziska Degenhardt, Ina Giegling, Dan Rujescu, Stefán Hreiðarsson, Evald Sæmundsen, Joo Wook Ahn, Caroline Mackie Ogilvie, Santhosh Girirajan, Hreinn Stefánsson, Kāri Stefánsson, Michael O’Donovan, Michael J. Owen, Anne S. Bassett, George Kirov

    Cyhoeddwyd 2016
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  9. 9
    An open resource of structural variation for medical and population genetics

    An open resource of structural variation for medical and population genetics gan Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit V. Khera, Chelsea Lowther, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell‐Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, Christine Stevens, Namrata Gupta, Lauren Margolin, Kent D. Taylor, Henry J. Lin, Stephen S. Rich, Wendy S. Post, Yii‐Der Ida Chen, Jerome I. Rotter, Chad Nusbaum, Anthony Philippakis, Eric S. Lander, Stacey Gabriel, Benjamin M. Neale, Sekar Kathiresan, Mark J. Daly, Eric Banks, Daniel G. MacArthur, Michael E. Talkowski

    Cyhoeddwyd 2019
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  10. 10
    Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

    Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies gan Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack Fu, Isaac Wong, Ryan L. Collins, Xuefang Zhao, Christina Austin‐Tse, Emily Evangelista, Gabrielle Lemire, Vimla S. Aggarwal, Diane Lucente, Laura D. Gauthier, Charlotte Tolonen, Nareh Sahakian, Christine Stevens, Joon‐Yong An, Shan Dong, Mary E. Norton, Tippi C. MacKenzie, Bernie Devlin, Kelly L. Gilmore, Bradford C. Powell, Alicia Brandt, Francesco Vetrini, Michelle DiVito, Stephan Sanders, Daniel G. MacArthur, Jennelle C. Hodge, Anne O’Donnell‐Luria, Heidi L. Rehm, Neeta L. Vora, Brynn Levy, Harrison Brand, Ronald J. Wapner, Michael E. Talkowski

    Cyhoeddwyd 2023
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  11. 11
    A cross-disorder dosage sensitivity map of the human genome

    A cross-disorder dosage sensitivity map of the human genome gan Ryan L. Collins, Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella, Lide Han, Theodore Morley, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack Fu, Konrad J. Karczewski, Georgios Kellaris, Chelsea Lowther, Diane Lucente, Kiana Mohajeri, Margit Nõukas, Xander Nuttle, Kaitlin E. Samocha, Mi K. Trinh, Farid Ullah, Urmo Võsa, Matthew E. Hurles, Swaroop Aradhya, Erica E. Davis, Hilary K. Finucane, James F. Gusella, Aura Janze, Nicholas Katsanis, Ludmila Matyakhina, Benjamin M. Neale, D. B. Sanders, Stephanie Warren, Jennelle C. Hodge, Dennis Lal, Douglas M. Ruderfer, Jeanne Meck, Reedik Mägi, Tõnu Esko, Alexandre Reymond, Zoltán Kutalik, Hákon Hákonarson, Shamil Sunyaev, Harrison Brand, Michael E. Talkowski, Andres Metspalu, Reedik Mägi, Mari Nelis, Lili Milani, Tõnu Esko

    Cyhoeddwyd 2022
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  12. 12
    Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

    Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome gan Anne S. Bassett, Chelsea Lowther, Daniele Merico, Gregory Costain, Eva W.C. Chow, Thérèse van Amelsvoort, Donna M. McDonald‐McGinn, Raquel E. Gur, Ann Swillen, Marianne B. M. van den Bree, Kieran C. Murphy, Doron Gothelf, Carrie E. Bearden, Stéphan Eliez, Wendy R. Kates, Nicole Philip, Vandana Sashi, Linda Campbell, Jacob Vorstman, Joseph F. Cubells, Gabriela M. Repetto, Tabassome Simon, Erik Boot, Tracy Heung, Rens Evers, Claudia Vingerhoets, Esther van Duin, Elaine H. Zackai, Elfi Vergaelen, Koenraad Devriendt, Joris Vermeesch, Michael J. Owen, Clodagh M. Murphy, Elena Michaelovosky, Leila Kushan, Maude Schneider, Wanda Fremont, Tiffany Busa, Stephen R. Hooper, Kathryn McCabe, Sasja N. Duijff, Keren Isaev, Giovanna Pellecchia, John Wei, Matthew J. Gazzellone, Stephen W. Scherer, Beverly S. Emanuel, Tingwei Guo, Bernice E. Morrow, Christian R. Marshall

    Cyhoeddwyd 2017
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  13. 13
    Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

    Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion gan Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand, Tracy Heung, Aaron M. Holleman, H. Richard Johnston, Thomas Monfeuga, Donna M. McDonald‐McGinn, Raquel E. Gur, Bernice E. Morrow, Ann Swillen, Jacob Vorstman, Carrie E. Bearden, Eva W. C. Chow, Marianne B. M. van den Bree, B S Emanuel, Joris Vermeesch, Stephen T. Warren, Michael J. Owen, Pankaj Chopra, David J. Cutler, Richard Duncan, Alex Kotlar, Jennifer G. Mulle, Anna J. Voss, Michael E. Zwick, Alexander Diacou, Aaron Golden, Tingwei Guo, Jhih-Rong Lin, Tao Wang, Zhengdong Zhang, Yingjie Zhao, Christian R. Marshall, Daniele Merico, Andrea Jin, Brenna Lilley, Harold I. Salmons, Oanh Tran, Peter Holmans, Antonio F. Pardiñas, James Walters, Wolfram Demaerel, Erik Boot, Nancy J. Butcher, Gregory Costain, Chelsea Lowther, Rens Evers, Thérèse van Amelsvoort, Esther van Duin, Claudia Vingerhoets, Jeroen Breckpot, Koenraad Devriendt, Elfi Vergaelen, Annick Vogels, T. Blaine Crowley, Daniel E. McGinn, Edward Moss, Robert Sharkus, Marta Unolt, Elaine H. Zackai, Monica E. Calkins, Robert S. Gallagher, Ruben C. Gur, Sunny X. Tang, Rosemarie Fritsch, Claudia Ornstein, Gabriela M. Repetto, Elemi Breetvelt, Sasja N. Duijff, Ania Fiksinski, Hayley Moss, Maria Niarchou, Kieran C. Murphy, Sarah E. Prasad, Eileen Daly, Maria Gudbrandsen, Clodagh M. Murphy, Declan Murphy, Antonio Buzzanca, Fabio Di Fabio, Maria Cristina Digilio, Maria Pontillo, Bruno Marino, Stefano Vicari, Karlene Coleman, Joseph F. Cubells, Opal Ousley, Miri Carmel, Doron Gothelf, Ehud Mekori‐Domachevsky, Elena Michaelovsky, Ronnie Weinberger, Abraham Weizman, Leila Kushan, Maria Jalbrzikowski, Marco Armando, Stéphan Eliez, Corrado Sandini, Maude Schneider

    Cyhoeddwyd 2020
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  14. 14
    A structural variation reference for medical and population genetics

    A structural variation reference for medical and population genetics gan Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit V. Khera, Chelsea Lowther, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell‐Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, Christine Stevens, Namrata Gupta, Caroline Cusick, Lauren Margolin, Jessica Alföldi, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Laurent C. Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric Vallabh Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne O’Donnell‐Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, José Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo Wang, James S. Ware, Nicholas A. Watts, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, J. A. Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea

    Cyhoeddwyd 2020
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  15. 15
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders gan Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    Cyhoeddwyd 2022
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