Rezultati - Christine Stevens
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Identification of Two Independent Risk Factors for Lupus within the MHC in United Kingdom Families od Michelle M. A. Fernando, Christine Stevens, Pardis C. Sabeti, Emily C. Walsh, Alasdair McWhinnie, Anila Shah, Todd J. Green, John D. Rioux, Timothy J. Vyse
Izdano 2007Artigo -
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Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism od Maria H. Chahrour, Timothy W. Yu, Elaine T. Lim, Bulent Ataman, Michael E. Coulter, Robert Hill, Christine Stevens, Christian Schubert, Michael E. Greenberg, Stacey Gabriel, Christopher A. Walsh
Izdano 2012Artigo -
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Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder od Christopher S. Poultney, Arthur P. Goldberg, Elodie Drapeau, Yan Kou, Hala Harony‐Nicolas, Yuji Kajiwara, Silvia De Rubeis, Simon Durand, Christine Stevens, Karola Rehnström, Aarno Palotie, Mark J. Daly, Avi Ma’ayan, Menachem Fromer, Joseph D. Buxbaum
Izdano 2013Artigo -
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zCall: a rare variant caller for array-based genotyping od Jacqueline I. Goldstein, Andrew Crenshaw, Jason Carey, George Grant, Jared Maguire, Menachem Fromer, Colm O’Dushlaine, Jennifer L. Moran, Kimberly Chambert, Christine Stevens, Pamela Sklar, Christina M. Hultman, Shaun Purcell, Steven A. McCarroll, Patrick F. Sullivan, Mark J. Daly, Benjamin M. Neale
Izdano 2012Artigo -
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High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA od Jesper B. Poulsen, Francesco Lescai, Jakob Grove, Marie Bækvad‐Hansen, Michael Christiansen, Christian M. Hagen, Julian Maller, Christine Stevens, Shenting Li, Qibin Li, Jihua Sun, Jun Wang, Merete Nordentoft, Thomas Werge, Preben Bo Mortensen, Anders D. Børglum, Mark J. Daly, David M. Hougaard, Jonas Bybjerg‐Grauholm, Mads V. Hollegaard
Izdano 2016Artigo -
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Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants od F. Kyle Satterstrom, Raymond K. Walters, Tarjinder Singh, Emilie M. Wigdor, Francesco Lescai, Ditte Demontis, Jack A. Kosmicki, Jakob Grove, Christine Stevens, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Duncan S. Palmer, Julian Maller, Merete Nordentoft, Ole Mors, Elise Robinson, David M. Hougaard, Thomas Werge, Preben Bo Mortensen, Benjamin M. Neale, Anders D. Børglum, Mark J. Daly
Izdano 2019Artigo -
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Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD od Shixian Hu, Arnau Vich Vila, Ranko Gaćeša, Valerie Collij, Christine Stevens, Jack Fu, Isaac Wong, Michael E. Talkowski, Manuel A. Rivas, Floris Imhann, Laura A. Bolte, Hendrik van Dullemen, Gerard Dijkstra, Marijn C. Visschedijk, Eleonora A. Festen, Ramnik J. Xavier, Jingyuan Fu, Mark J. Daly, Cisca Wijmenga, Alexandra Zhernakova, Alexander Kurilshikov, Rinse K. Weersma
Izdano 2020Artigo -
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Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome od M. Chiara Manzini, Dimira Tambunan, R. Sean Hill, Timothy W. Yu, Thomas M. Maynard, Erin L. Heinzen, Kevin V. Shianna, Christine Stevens, Jennifer N. Partlow, Brenda J. Barry, Jacqueline Rodriguez, Vandana Gupta, Abdelkarim A. Al-Qudah, Wafaa Eyaid, Jan M. Friedman, Mustafa A. Salih, Robin D. Clark, Isabella Moroni, Marina Mora, Alan H. Beggs, Stacey Gabriel, Christopher A. Walsh
Izdano 2012Artigo -
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Evolution of Osteocrin as an activity-regulated factor in the primate brain od Bulent Ataman, Gabriella L. Boulting, David A. Harmin, Marty G. Yang, Mollie Baker-Salisbury, Ee-Lynn Yap, Athar N. Malik, Kevin Mei, Alex A Rubin, Ivo Spiegel, Ershela Durresi, Nikhil Sharma, Linda Hu, Mihovil Pletikos, Eric C. Griffith, Jennifer N. Partlow, Christine Stevens, Mazhar Adli, Maria H. Chahrour, Nenad Šestan, Christopher A. Walsh, V. K. Berezovskii, Margaret S. Livingstone, Michael E. Greenberg
Izdano 2016Artigo -
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De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder od Peter J. Hamilton, Nicholas G. Campbell, Shruti Sharma, Kevin Erreger, Freja Herborg, Christine Saunders, Andrea N. Belovich, Mark J. Daly, Richard A. Gibbs, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Bernie Devlin, Elaine T. Lim, Benjamin M. Neale, Kathryn Roeder, A Sabó, Gerard D. Schellenberg, Christine Stevens, James S. Sutcliffe, Michelle A. Sahai, Edwin H. Cook, Ulrik Gether, Hassane S. Mchaourab, H Matthies, James S. Sutcliffe, Aurelio Galli
Izdano 2013Artigo -
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A framework for the interpretation of de novo mutation in human disease od Kaitlin E. Samocha, Elise Robinson, Stephan Sanders, Christine Stevens, Aniko Sabo, Lauren M. McGrath, Jack A. Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby, Dennis P. Wall, Daniel G. MacArthur, Stacey Gabriel, Mark A. DePristo, Shaun Purcell, Aarno Palotie, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Richard A. Gibbs, Gerard D. Schellenberg, James S. Sutcliffe, Bernie Devlin, Kathryn Roeder, Benjamin M. Neale, Mark J. Daly
Izdano 2014Artigo -
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Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis od Mélissa Beaudoin, Philippe Goyette, Gabrielle Boucher, Ken Sin Lo, Manuel A. Rivas, Christine Stevens, Azadeh Alikashani, Martin Ladouceur, David Ellinghaus, Leif Törkvist, Gautam Goel, Caroline Lagacé, Vito Annese, Alain Bitton, Jakob Begun, Steven R. Brant, Francesca Bresso, Judy H. Cho, Richard H. Duerr, Jonas Halfvarson, Dermot McGovern, Graham Radford‐Smith, Stefan Schreiber, L. Philip Schumm, Yashoda Sharma, Mark S. Silverberg, Rinse K. Weersma, Mauro D’Amato, Séverine Vermeire, André Franke, Guillaume Lettre, Ramnik J. Xavier, Mark J. Daly, John D. Rioux
Izdano 2013Artigo -
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Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis od Christopher S. Smillie, Moshe Biton, José Ordovás-Montañés, Keri M. Sullivan, Grace Burgin, Daniel B. Graham, Rebecca H. Herbst, Noga Rogel, Michal Slyper, Julia Waldman, Malika Sud, Elizabeth Andrews, Gabriella Velonias, Adam L. Haber, Karthik A. Jagadeesh, Sanja Vicković, Junmei Yao, Christine Stevens, Danielle Dionne, Lan Nguyễn, Alexandra‐Chloé Villani, Matan Hofree, Elizabeth A. Creasey, Hailiang Huang, Orit Rozenblatt–Rosen, John J. Garber, Hamed Khalili, A. Nicole Desch, Mark J. Daly, Ashwin N. Ananthakrishnan, Alex K. Shalek, Ramnik J. Xavier, Aviv Regev
Izdano 2019Artigo -
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Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls od Li Liu, Aniko Sabo, Benjamin M. Neale, Uma Nagaswamy, Christine Stevens, Elaine T. Lim, Corneliu Bodea, Donna M. Muzny, Jeffrey G. Reid, Eric Banks, Hilary Coon, Mark A. DePristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E. Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Bernie Devlin, Gerard D. Schellenberg, James S. Sutcliffe, Mark J. Daly, Richard A. Gibbs, Kathryn Roeder
Izdano 2013Artigo -
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Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn’s Disease od Lee A. Denson, Ingrid Jurickova, Rebekah Karns, Kelly Shaw, David J. Cutler, David T. Okou, Anne Dodd, Kathryn Quinn, Kajari Mondal, Bruce J. Aronow, Yael Haberman, Aaron Linn, Adam Price, Ramona Bezold, Kathleen D. Lake, Kimberly Jackson, Thomas D. Walters, Anne M. Griffiths, Robert N. Baldassano, Joshua D. Noe, Jeffrey S. Hyams, Wallace Crandall, Barbara S. Kirschner, Melvin B. Heyman, Scott B. Snapper, Stephen L. Guthery, Marla C. Dubinsky, Neal S. LeLeiko, Anthony Otley, Ramnik J. Xavier, Christine Stevens, Mark J. Daly, Michael E. Zwick, Subra Kugathasan
Izdano 2018Artigo
Iskalna orodja:
Sorodne teme
Biology
Genetics
Gene
Medicine
Computational biology
Exome sequencing
Mutation
Autism
Exome
Genotype
Phenotype
Genome
Psychiatry
Disease
Psychology
Single-nucleotide polymorphism
Genetic association
Genome-wide association study
Autism spectrum disorder
Evolutionary biology
Population
Copy-number variation
Developmental psychology
Internal medicine
Pathology
Allele
Environmental health
Genetic variation
Genotyping
Immunology