Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Christa L Martin"'
Autor:
Karen E Hermetz, Scott Newman, Karen N Conneely, Christa L Martin, Blake C Ballif, Lisa G Shaffer, Jannine D Cody, M Katharine Rudd
Publikováno v:
PLoS Genetics, Vol 10, Iss 1, p e1004139 (2014)
Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large duplications that include many genes can lead to both neurodevelopmental phenotypes in children and gene amplifications in tumors. There are
Externí odkaz:
https://doaj.org/article/98cb361d57bb4a7581e7900cda9814ba
Autor:
Laney K. Jones, Natasha T. Strande, Evan M. Calvo, Jingheng Chen, Gabriela Rodriguez, Cara Z. McCormick, Miranda L. G. Hallquist, Juliann M. Savatt, Heather Rocha, Marc S. Williams, Amy C. Sturm, Adam H. Buchanan, Russell E. Glasgow, Christa L. Martin, Alanna Kulchak Rahm
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: DNA-based population screening has been proposed as a public health solution to identify individuals at risk for serious health conditions who otherwise may not present for medical care. The clinical utility and public health impact of
Externí odkaz:
https://doaj.org/article/522103d74d794e618ecf78894398352a
Autor:
Angharad M Roberts, Marina T. DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S. Berg, Fiona Cunningham, Karen Eilbeck, Helen V. Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh, Christa L. Martin, Ellen M. McDonagh, Daniel Perrett, Erin M. Ramos, Peter N. Robinson, Ana Rath, David van Sant, Zornitza Stark, Nicola Whiffin, Heidi L. Rehm, James S. Ware
PURPOSEThe terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is considerable discrepancy in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f29c4bf960436a14a71f2e122fe1b0f3
https://doi.org/10.1101/2023.03.30.23287948
https://doi.org/10.1101/2023.03.30.23287948
Autor:
Pedro J. Gonzalez-Mantilla, Yirui Hu, Scott M. Myers, Brenda M. Finucane, David H. Ledbetter, Christa L. Martin, Andres Moreno-De-Luca
Publikováno v:
JAMA Pediatrics. 177:472
ImportanceExome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral p
Autor:
Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)
PURPOSESeveral groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a ge
Autor:
Christa L. Martin
Publikováno v:
Journal of the American Academy of Child & Adolescent Psychiatry. 61:S285
Autor:
Siddharth Srivastava, Jamie A. Love-Nichols, Kira A. Dies, David H. Ledbetter, Christa L. Martin, Wendy K. Chung, Helen V. Firth, Thomas Frazier, Robin L. Hansen, Lisa Prock, Han Brunner, Ny Hoang, Stephen W. Scherer, Mustafa Sahin, David T. Miller
Publikováno v:
Genetics in Medicine. 22(10):1731-1732
In our meta-analysis, we utilized incorrect numbers of individuals for one publication (Retterer et al. 2016) due to the fact the numbers for ASD and ID groups were not independent representations. We have updated our analysis using corrected numbers
Autor:
LeeAnne, Green Snyder, Debra, D'Angelo, Qixuan, Chen, Raphael, Bernier, Robin P, Goin-Kochel, Arianne Stevens, Wallace, Jennifer, Gerdts, Stephen, Kanne, Leandra, Berry, Lisa, Blaskey, Emily, Kuschner, Timothy, Roberts, Elliot, Sherr, Christa L, Martin, David H, Ledbetter, John E, Spiro, Wendy K, Chung, Ellen, Hanson, Anne, Wolken
Publikováno v:
Journal of Autism and Developmental Disorders. 46:2734-2748
The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compare
Autor:
Ellen, Hanson, Raphael, Bernier, Ken, Porche, Frank I, Jackson, Robin P, Goin-Kochel, LeeAnne Green, Snyder, Anne V, Snow, Arianne Stevens, Wallace, Katherine L, Campe, Yuan, Zhang, Qixuan, Chen, Debra, D'Angelo, Andres, Moreno-De-Luca, Patrick T, Orr, K B, Boomer, David W, Evans, Stephen, Kanne, Leandra, Berry, Fiona K, Miller, Jennifer, Olson, Elliot, Sherr, Christa L, Martin, David H, Ledbetter, John E, Spiro, Wendy K, Chung, J, Wenegrat
Publikováno v:
Biological psychiatry, vol 77, iss 9
Background Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes. Methods To clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental
Autor:
Robert Maier, Gerhard Moser, Guo-Bo Chen, Stephan Ripke, William Coryell, James B. Potash, William A. Scheftner, Jianxin Shi, Myrna M. Weissman, Christina M. Hultman, Mikael Landén, Douglas F. Levinson, Kenneth S. Kendler, Jordan W. Smoller, Naomi R. Wray, S. Hong Lee, Devin Absher, Ingrid Agartz, Huda Akil, Farooq Amin, Ole A. Andreassen, Adebayo Anjorin, Richard Anney, Dan E. Arking, Philip Asherson, Maria H. Azevedo, Lena Backlund, Judith A. Badner, Anthony J. Bailey, Tobias Banaschewski, Jack D. Barchas, Michael R. Barnes, Thomas B. Barrett, Nicholas Bass, Agatino Battaglia, Michael Bauer, Mònica Bayés, Frank Bellivier, Sarah E. Bergen, Wade Berrettini, Catalina Betancur, Thomas Bettecken, Joseph Biederman, Elisabeth B. Binder, Donald W. Black, Douglas H.R. Blackwood, Cinnamon S. Bloss, Michael Boehnke, Dorret I. Boomsma, Gerome Breen, René Breuer, Richard Bruggeman, Nancy G. Buccola, Jan K. Buitelaar, William E. Bunney, Joseph D. Buxbaum, William F. Byerley, Sian Caesar, Wiepke Cahn, Rita M. Cantor, Miguel Casas, Aravinda Chakravarti, Kimberly Chambert, Khalid Choudhury, Sven Cichon, C. Robert Cloninger, David A. Collier, Edwin H. Cook, Hilary Coon, Bru Cormand, Paul Cormican, Aiden Corvin, William H. Coryell, Nicholas Craddock, David W. Craig, Ian W. Craig, Jennifer Crosbie, Michael L. Cuccaro, David Curtis, Darina Czamara, Mark J. Daly, Susmita Datta, Geraldine Dawson, Richard Day, Eco J. De Geus, Franziska Degenhardt, Bernie Devlin, Srdjan Djurovic, Gary J. Donohoe, Alysa E. Doyle, Jubao Duan, Frank Dudbridge, Eftichia Duketis, Richard P. Ebstein, Howard J. Edenberg, Josephine Elia, Sean Ennis, Bruno Etain, Ayman Fanous, Stephen V. Faraone, Anne E. Farmer, I. Nicol Ferrier, Matthew Flickinger, Eric Fombonne, Tatiana Foroud, Josef Frank, Barbara Franke, Christine Fraser, Robert Freedman, Nelson B. Freimer, Christine M. Freitag, Marion Friedl, Louise Frisén, Louise Gallagher, Pablo V. Gejman, Lyudmila Georgieva, Elliot S. Gershon, Daniel H. Geschwind, Ina Giegling, Michael Gill, Scott D. Gordon, Katherine Gordon-Smith, Elaine K. Green, Tiffany A. Greenwood, Dorothy E. Grice, Magdalena Gross, Detelina Grozeva, Weihua Guan, Hugh Gurling, Lieuwe De Haan, Jonathan L. Haines, Hakon Hakonarson, Joachim Hallmayer, Steven P. Hamilton, Marian L. Hamshere, Thomas F. Hansen, Annette M. Hartmann, Martin Hautzinger, Andrew C. Heath, Anjali K. Henders, Stefan Herms, Ian B. Hickie, Maria Hipolito, Susanne Hoefels, Peter A. Holmans, Florian Holsboer, Witte J. Hoogendijk, Jouke-Jan Hottenga, Vanessa Hus, Andrés Ingason, Marcus Ising, Stéphane Jamain, Ian Jones, Lisa Jones, Anna K. Kähler, René S. Kahn, Radhika Kandaswamy, Matthew C. Keller, John R. Kelsoe, James L. Kennedy, Elaine Kenny, Lindsey Kent, Yunjung Kim, George K. Kirov, Sabine M. Klauck, Lambertus Klei, James A. Knowles, Martin A. Kohli, Daniel L. Koller, Bettina Konte, Ania Korszun, Lydia Krabbendam, Robert Krasucki, Jonna Kuntsi, Phoenix Kwan, Niklas Långström, Mark Lathrop, Jacob Lawrence, William B. Lawson, Marion Leboyer, David H. Ledbetter, Phil H. Lee, Todd Lencz, Klaus-Peter Lesch, Cathryn M. Lewis, Jun Li, Paul Lichtenstein, Jeffrey A. Lieberman, Dan-Yu Lin, Don H. Linszen, Chunyu Liu, Falk W. Lohoff, Sandra K. Loo, Catherine Lord, Jennifer K. Lowe, Susanne Lucae, Donald J. MacIntyre, Pamela A.F. Madden, Elena Maestrini, Patrik K.E. Magnusson, Pamela B. Mahon, Wolfgang Maier, Anil K. Malhotra, Shrikant M. Mane, Christa L. Martin, Nicholas G. Martin, Manuel Mattheisen, Keith Matthews, Morten Mattingsdal, Steven A. McCarroll, Kevin A. McGhee, James J. McGough, Patrick J. McGrath, Peter McGuffin, Melvin G. McInnis, Andrew McIntosh, Rebecca McKinney, Alan W. McLean, Francis J. McMahon, William M. McMahon, Andrew McQuillin, Helena Medeiros, Sarah E. Medland, Sandra Meier, Ingrid Melle, Fan Meng, Jobst Meyer, Christel M. Middeldorp, Lefkos Middleton, Vihra Milanova, Ana Miranda, Anthony P. Monaco, Grant W. Montgomery, Jennifer L. Moran, Daniel Moreno-De-Luca, Gunnar Morken, Derek W. Morris, Eric M. Morrow, Valentina Moskvina, Bryan J. Mowry, Pierandrea Muglia, Thomas W. Mühleisen, Bertram Müller-Myhsok, Michael Murtha, Richard M. Myers, Inez Myin-Germeys, Benjamin M. Neale, Stan F. Nelson, Caroline M. Nievergelt, Ivan Nikolov, Vishwajit Nimgaonkar, Willem A. Nolen, Markus M. Nöthen, John I. Nurnberger, Evaristus A. Nwulia, Dale R. Nyholt, Michael C. O’Donovan, Colm O’Dushlaine, Robert D. Oades, Ann Olincy, Guiomar Oliveira, Line Olsen, Roel A. Ophoff, Urban Osby, Michael J. Owen, Aarno Palotie, Jeremy R. Parr, Andrew D. Paterson, Carlos N. Pato, Michele T. Pato, Brenda W. Penninx, Michele L. Pergadia, Margaret A. Pericak-Vance, Roy H. Perlis, Benjamin S. Pickard, Jonathan Pimm, Joseph Piven, Danielle Posthuma, Fritz Poustka, Peter Propping, Shaun M. Purcell, Vinay Puri, Digby J. Quested, Emma M. Quinn, Josep Antoni Ramos-Quiroga, Henrik B. Rasmussen, Soumya Raychaudhuri, Karola Rehnström, Andreas Reif, Marta Ribasés, John P. Rice, Marcella Rietschel, Kathryn Roeder, Herbert Roeyers, Lizzy Rossin, Aribert Rothenberger, Guy Rouleau, Douglas Ruderfer, Dan Rujescu, Alan R. Sanders, Stephan J. Sanders, Susan L. Santangelo, Russell Schachar, Martin Schalling, Alan F. Schatzberg, Gerard D. Schellenberg, Stephen W. Scherer, Nicholas J. Schork, Thomas G. Schulze, Johannes Schumacher, Markus Schwarz, Edward Scolnick, Laura J. Scott, Joseph A. Sergeant, Paul D. Shilling, Stanley I. Shyn, Jeremy M. Silverman, Pamela Sklar, Susan L. Slager, Susan L. Smalley, Johannes H. Smit, Erin N. Smith, Edmund J.S. Sonuga-Barke, David St Clair, Matthew State, Michael Steffens, Hans-Christoph Steinhausen, John S. Strauss, Jana Strohmaier, T. Scott Stroup, Patrick F. Sullivan, James Sutcliffe, Peter Szatmari, Szabocls Szelinger, Anita Thapar, Srinivasa Thirumalai, Robert C. Thompson, Alexandre A. Todorov, Federica Tozzi, Jens Treutlein, Jung-Ying Tzeng, Manfred Uhr, Edwin J.C.G. van den Oord, Gerard Van Grootheest, Jim Van Os, Astrid M. Vicente, Veronica J. Vieland, John B. Vincent, Peter M. Visscher, Christopher A. Walsh, Thomas H. Wassink, Stanley J. Watson, Lauren A. Weiss, Thomas Werge, Thomas F. Wienker, Durk Wiersma, Ellen M. Wijsman, Gonneke Willemsen, Nigel Williams, A. Jeremy Willsey, Stephanie H. Witt, Wei Xu, Allan H. Young, Timothy W. Yu, Stanley Zammit, Peter P. Zandi, Peng Zhang, Frans G. Zitman, Sebastian Zöllner
Publikováno v:
Maier, R, Moser, G, Chen, G B, Ripke, S, Boomsma, D I, de Geus, E J C, Hottenga, J J, Middeldorp, C M, Willemsen, G, Coryell, W H, Potash, J B, Scheftner, W A, Shi, J, Weissmann, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R & Lee, S H 2015, ' Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-294 . https://doi.org/10.1016/j.ajhg.2014.12.006
ResearcherID
Maier, R, Moser, G, Chen, G-B, Ripke, S, Coryell, W, Potash, J B, Scheftner, W A, Shi, J, Weissman, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R, Lee, S H & McIntosh, A 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-94 . https://doi.org/10.1016/j.ajhg.2014.12.006
American journal of human genetics, 96(2), 283-294. Cell Press
American Journal of Human Genetics, 96(2), 283-294. Cell Press
Maier, R, Moser, G, Chen, G-B, Ripke, S, Coryell, W, Potash, J B, Scheftner, W A, Shi, J, Weissman, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R, Lee, S H & Cross-Disorder Working Group of the Psychiatric Genomics Consortium 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-94 . https://doi.org/10.1016/j.ajhg.2014.12.006
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (2), pp.283-294. ⟨10.1016/j.ajhg.2014.12.006⟩
American Journal of Human Genetics, 2015, 96 (2), pp.283-294. ⟨10.1016/j.ajhg.2014.12.006⟩
American Journal of Human Genetics, 96, 2, pp. 283-94
Cross-Disorder Working Group of the Psychiatric Genomics Consortium 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American journal of human genetics, vol. 96, no. 2, pp. 283-294 . https://doi.org/10.1016/j.ajhg.2014.12.006
Maier, R, Moser, G, Chen, G-B, Ripke, S, Coryell, W, Potash, J B, Scheftner, W A, Shi, J, Weissman, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R, Lee, S H, Kuntsi, J, McGuffin, P, Lewis, C, Farmer, A, Craig, I, Breen, G, Asherson, P & Young, A & Sonuga-Barke, E 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-94 . https://doi.org/10.1016/j.ajhg.2014.12.006
American Journal of Human Genetics, 96, 283-94
American journal of human genetics, vol 96, iss 2
Maier, R, Moser, G, Chen, G-B, Ripke, S, Coryell, W, Potash, J B, Scheftner, W A, Shi, J, Weissman, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R, Lee, S H, Cross-Disorder Working Group of the Psychiatric Genomics Consortium & Mattheisen, M 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-94 . https://doi.org/10.1016/j.ajhg.2014.12.006
ResearcherID
Maier, R, Moser, G, Chen, G-B, Ripke, S, Coryell, W, Potash, J B, Scheftner, W A, Shi, J, Weissman, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R, Lee, S H & McIntosh, A 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-94 . https://doi.org/10.1016/j.ajhg.2014.12.006
American journal of human genetics, 96(2), 283-294. Cell Press
American Journal of Human Genetics, 96(2), 283-294. Cell Press
Maier, R, Moser, G, Chen, G-B, Ripke, S, Coryell, W, Potash, J B, Scheftner, W A, Shi, J, Weissman, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R, Lee, S H & Cross-Disorder Working Group of the Psychiatric Genomics Consortium 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-94 . https://doi.org/10.1016/j.ajhg.2014.12.006
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (2), pp.283-294. ⟨10.1016/j.ajhg.2014.12.006⟩
American Journal of Human Genetics, 2015, 96 (2), pp.283-294. ⟨10.1016/j.ajhg.2014.12.006⟩
American Journal of Human Genetics, 96, 2, pp. 283-94
Cross-Disorder Working Group of the Psychiatric Genomics Consortium 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American journal of human genetics, vol. 96, no. 2, pp. 283-294 . https://doi.org/10.1016/j.ajhg.2014.12.006
Maier, R, Moser, G, Chen, G-B, Ripke, S, Coryell, W, Potash, J B, Scheftner, W A, Shi, J, Weissman, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R, Lee, S H, Kuntsi, J, McGuffin, P, Lewis, C, Farmer, A, Craig, I, Breen, G, Asherson, P & Young, A & Sonuga-Barke, E 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-94 . https://doi.org/10.1016/j.ajhg.2014.12.006
American Journal of Human Genetics, 96, 283-94
American journal of human genetics, vol 96, iss 2
Maier, R, Moser, G, Chen, G-B, Ripke, S, Coryell, W, Potash, J B, Scheftner, W A, Shi, J, Weissman, M M, Hultman, C M, Landén, M, Levinson, D F, Kendler, K S, Smoller, J W, Wray, N R, Lee, S H, Cross-Disorder Working Group of the Psychiatric Genomics Consortium & Mattheisen, M 2015, ' Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder ', American Journal of Human Genetics, vol. 96, no. 2, pp. 283-94 . https://doi.org/10.1016/j.ajhg.2014.12.006
Cross-Disorder Working Group of the Psychiatric Genomics Consortium - Vicente A.M. Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25640677/ Genetic risk prediction has several potential applications in medical research and clinical prac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14465952f3a6d9742cd998a038baedb6
https://research.vu.nl/en/publications/a362bfdc-2b0a-4aa6-95c3-57dd65e9366f
https://research.vu.nl/en/publications/a362bfdc-2b0a-4aa6-95c3-57dd65e9366f