Christa Lese Martin
2001–2025 年に発表
- 別表記
- Christa Lese‐Martin
- 91
- 論文数
- 30,360
- 被引用数
- 62
- h 指数
- 88
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology56.5%
- Medicine20.6%
- Neuroscience17.3%
- Psychology1.3%
- Computer Science1%
- Agricultural and Biological Sciences0.7%
- その他2.6%
トピック
- Genomics and Rare Diseases11.1%
- Genomic variations and chromosomal abnormalities8.8%
- Genetics and Neurodevelopmental Disorders7.1%
- Autism Spectrum Disorder Research6.7%
- Congenital heart defects research3.2%
- Prenatal Screening and Diagnostics3%
- その他60.1%
共著者
- David H. Ledbetter39
- Wendy K. Chung13
- David T. Miller12
- Erin Rooney Riggs11
- Scott M. Myers11
- Andrés Moreno-De-Luca10
- Jonathan S. Berg10
- Matthew T. Oetjens10
- Daniel Moreno‐De‐Luca9
- Heidi L. Rehm9
- Kristy Lee9
- Steven M. Harrison9
- Brenda Finucane8
- Daniel H. Geschwind8
- Michael S. Watson8
- Ray E. Hershberger8
- Stephan Sanders8
- Allan Gordon7
- C. Sue Richards7
- Douglas R. Stewart7
- Helen V. Firth7
- Laura M. Amendola7
- Marina T. DiStefano7
- Michael H. Gollob7
全論文
- ClinGen — The Clinical Genome Resource
著者: Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks, Carlos D. Bustamante, James P. Evans, Melissa Landrum, David H. Ledbetter, Donna Maglott, Christa Lese Martin, Robert L. Nussbaum, Sharon E. Plon, Erin M. Ramos, Stephen T. Sherry, Michael S. Watson - New England Journal of Medicine 2015 被引用: 1,537
- Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
著者: Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Christa Lese Martin - Genetics in Medicine 2019 被引用: 1,766
- ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
著者: David T. Miller, Kristy Lee, Noura S. Abul‐Husn, Laura M. Amendola, Kyle B. Brothers, Wendy K. Chung, Michael H. Gollob, Allan Gordon, Steven M. Harrison, Ray E. Hershberger, Teri E. Klein, C. Sue Richards, Douglas R. Stewart, Christa Lese Martin - Genetics in Medicine 2023 被引用: 417
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
著者: Stephan Sanders, Xin He, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Kaitlin E. Samocha, A. Ercüment Çiçek, Michael T. Murtha, Vanessa H. Bal, Somer Bishop, Shan Dong, Arthur P. Goldberg, Jinlu Cai, John F. Keaney, Lambertus Klei, Jeffrey D. Mandell, Daniel Moreno‐De‐Luca, Christopher S. Poultney, Elise Robinson, Louw Smith, Tor Solli-Nowlan, Mack Y. Su, Nicole A. Teran, Michael F. Walker, Donna M. Werling, Arthur L. Beaudet, Rita M. Cantor, Éric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, Catherine Lord, Jennifer K. Lowe, Shrikant Mane, Donna M. Martin, Eric M. Morrow, Michael E. Talkowski, James S. Sutcliffe, Christopher A. Walsh, Timothy W. Yu, David H. Ledbetter, Christa Lese Martin, Edwin H. Cook, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Matthew W. State - Neuron 2015 被引用: 1,547
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
著者: Siddharth Srivastava, Jamie Love‐Nichols, Kira A. Dies, David H. Ledbetter, Christa Lese Martin, Wendy K. Chung, Helen V. Firth, Thomas Frazier, Robin Hansen, Lisa M. Prock, Han G. Brunner, Ny Hoang, Stephen W. Scherer, Mustafa Şahin, David T. Miller - Genetics in Medicine 2019 被引用: 711
- SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
著者: Pamela Feliciano, Amy M. Daniels, LeeAnne Green Snyder, Amy L. Beaumont, Alexies Camba, Amy Esler, Amanda G. Gulsrud, Andrew Z. Mason, Anibal Gutierrez, Amy Nicholson, Anna Marie Paolicelli, Alexander P. McKenzie, Angela L. Rachubinski, Alexandra N. Stephens, Andrea R. Simon, Amy Stedman, Amanda D. Shocklee, Amy Swanson, Brenda Finucane, Brittani A. Hilscher, Brenda Hauf, Brian J. O’Roak, Brooke G. McKenna, B. E. Robertson, Bárbara Rodríguez, Brianna M. Vernoia, Bonnie Van Metre, Catherine C. Bradley, Cheryl Cohen, Craig A. Erickson, Christina Harkins, Caitlin Hayes, Catherine Lord, Christa Lese Martin, Crissy Ortiz, Cesar Ochoa‐Lubinoff, Christine Peura, Catherine E. Rice, Cordelia Robinson Rosenberg, Christopher J. Smith, Carrie A. Thomas, Cora Taylor, L. Casey White, Corrie H. Walston, David G. Amaral, Daniel L. Coury, Dustin E. Sarver, Dalia Istephanous, Deana Li, Dzung Cong Nugyen, Emily A. Fox, Eric Butter, Elizabeth Berry‐Kravis, Eric Courchesne, Éric Fombonne, Eugenia Hofammann, Elena Lamarche, Ericka L. Wodka, Emily T. Matthews, Eirene O’Connor, Emily Palen, Fiona K. Miller, Gabriel S. Dichter, Gabriela Marzano, Gail Stein, Hanna Hutter, Hannah E. Kaplan, Hai Li, Holly Lechniak, Hoa Lam Schneider, Hana Zaydens, Ivette Arriaga, Jennifer Gerdts, Joseph F. Cubells, Jeanette M Cordova, Jaclyn Gunderson, Joseph Lillard, Julie Manoharan, James T. McCracken, Jacob J. Michaelson, Jason Neely, Jéssica Orobio, Juhi Pandey, Joseph Piven, Jessica Scherr, James S. Sutcliffe, Jennifer Tjernagel, Jermel Wallace, Kristen Callahan, Katherine Ann Dent, Kathryn A. Schweers, Kira E. Hamer, Kiely Law, Kathryn Lowe, Kaela O’Brien, Kaitlin Smith, Katherine G. Pawlowski, Karen Pierce, Katherine Roeder, Leonard Abbeduto ほか 110 名 - Neuron 2018 被引用: 492
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
著者: David T. Miller, Margaret P Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett, Lars Feuk, Jan M. Friedman, Ada Hamosh, Laird Jackson, Erin B. Kaminsky, Klaas Kok, Ian D. Krantz, Robert M. Kuhn, Charles Lee, James M. Ostell, Carla Rosenberg, Stephen W. Scherer, Nancy B. Spinner, Dimitri J. Stavropoulos, James Tepperberg, Erik C. Thorland, Joris Vermeesch, Darrel Waggoner, Michael S. Watson, Christa Lese Martin, David H. Ledbetter - The American Journal of Human Genetics 2010 被引用: 2,873
- Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
著者: Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, Julianne O’Daniel, Erin M. Ramos, Avni Santani, Alan F. Scott, Sharon E. Plon, Heidi L. Rehm, Christa Lese Martin, Jonathan S. Berg - The American Journal of Human Genetics 2017 被引用: 564
- Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis
著者: Ronald J. Wapner, Christa Lese Martin, Brynn Levy, Blake C. Ballif, Christine M. Eng, Julia Zachary, Melissa Savage, Lawrence D. Platt, Daniel H. Saltzman, William A. Grobman, Susan Klugman, Thomas Scholl, Joe Leigh Simpson, Kimberly McCall, Vimla S. Aggarwal, Brian Bunke, Odelia Nahum, Ankita Patel, Allen N. Lamb, Elizabeth Thom, Arthur L. Beaudet, David H. Ledbetter, Lisa G. Shaffer, Laird Jackson - New England Journal of Medicine 2012 被引用: 1,424
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
著者: Robert C. Green, Jonathan S. Berg, Wayne W. Grody, Sarah S. Kalia, Bruce R. Korf, Christa Lese Martin, Amy L. McGuire, Robert L. Nussbaum, Julianne O’Daniel, Kelly E. Ormond, Heidi L. Rehm, Michael S. Watson, Marc S. Williams, Leslie G. Biesecker - Genetics in Medicine 2013 被引用: 2,518
- ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
著者: David T. Miller, Kristy Lee, Noura S. Abul‐Husn, Laura M. Amendola, Kyle B. Brothers, Wendy K. Chung, Michael H. Gollob, Allan Gordon, Steven M. Harrison, Ray E. Hershberger, Teri E. Klein, Carolyn Sue Richards, Douglas R. Stewart, Christa Lese Martin - Genetics in Medicine 2022 被引用: 288
- Strong Association of De Novo Copy Number Mutations with Autism
著者: Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese‐Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, A. Krasnitz, Jude Kendall, Anthony Leotta, Deepa Pai, Ray Zhang, Yoonha Lee, James Hicks, Sarah Spence, Annette T. Lee, Kaija Puura, Terho Lehtimäki, David H. Ledbetter, Peter K. Gregersen, Joel D. Bregman, James S. Sutcliffe, Vaidehi Jobanputra, Wendy K. Chung, Dorothy Warburton, Mary‐Claire King, David Skuse, Daniel H. Geschwind, T. Conrad Gilliam, Kenny Ye, Michael Wigler - Science 2007 被引用: 2,849
- ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
著者: David T. Miller, Kristy Lee, Wendy K. Chung, Allan Gordon, Gail E. Herman, Teri E. Klein, Douglas R. Stewart, Laura M. Amendola, Kathy Adelman, Sherri J. Bale, Michael H. Gollob, Steven M. Harrison, Ray E. Hershberger, Kent D. McKelvey, C. Sue Richards, Christopher N. Vlangos, Michael S. Watson, Christa Lese Martin - Genetics in Medicine 2021 被引用: 562
- The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
著者: 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 Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese 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 - Genetics in Medicine 2022 被引用: 163
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
著者: Sarah S. Kalia, Kathy Adelman, Sherri J. Bale, Wendy K. Chung, Christine M. Eng, James P. Evans, Gail E. Herman, Sophia B. Hufnagel, Teri E. Klein, Bruce R. Korf, Kent D. McKelvey, Kelly E. Ormond, C. Sue Richards, Christopher N. Vlangos, Michael S. Watson, Christa Lese Martin, David T. Miller - Genetics in Medicine 2016 被引用: 1,700
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
著者: David T. Miller, Kristy Lee, Allan Gordon, Laura M. Amendola, Kathy Adelman, Sherri J. Bale, Wendy K. Chung, Michael H. Gollob, Steven M. Harrison, Gail E. Herman, Ray E. Hershberger, Teri E. Klein, Kent D. McKelvey, C. Sue Richards, Christopher N. Vlangos, Douglas R. Stewart, Michael S. Watson, Christa Lese Martin - Genetics in Medicine 2021 被引用: 263
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
著者: E. Andres Rivera-Munoz, Laura V. Milko, Steven M. Harrison, Danielle R. Azzariti, C. Lisa Kurtz, Kristy Lee, Jessica L. Mester, Meredith Weaver, Erin Currey, William Craigen, Charis Eng, Birgit Funke, Madhuri Hegde, Ray E. Hershberger, Rong Mao, Robert D. Steiner, Lisa M. Vincent, Christa Lese Martin, Sharon E. Plon, Erin M. Ramos, Heidi L. Rehm, Michael S. Watson, Jonathan S. Berg - Human Mutation 2018 被引用: 219
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
著者: Stephan Sanders, A. Gulhan Ercan‐Sencicek, Vanessa Hus, Rui Luo, Michael T. Murtha, Daniel Moreno‐De‐Luca, Su H. Chu, Michael Moreau, Abha R. Gupta, Susanne Thomson, Christopher E. Mason, Kaya Bilgüvar, Patrícia B. S. Celestino-Soper, Murim Choi, Emily L. Crawford, Lea K. Davis, Nicole R. Davis Wright, Rahul M. Dhodapkar, Michael DiCola, Nicholas M. DiLullo, Thomas Fernandez, Vikram Fielding‐Singh, Daniel O. Fishman, Stephanie Frahm, Rouben Garagaloyan, Gerald Goh, Sindhuja Kammela, Lambertus Klei, Jennifer K. Lowe, Sabata C. Lund, Anna D. McGrew, Kyle A. Meyer, William J. Moffat, John D. Murdoch, Brian J. O’Roak, G Ober, Rebecca S. Pottenger, Melanie J. Raubeson, Youeun Song, Qi Wang, Brian L. Yaspan, Timothy W. Yu, Ilana R. Yurkiewicz, Arthur L. Beaudet, Rita M. Cantor, Martin Curland, Dorothy E. Grice, Murat Günel, Richard P. Lifton, Shrikant Mane, Donna M. Martin, Chad A. Shaw, Michael Sheldon, Jay A. Tischfield, Christopher A. Walsh, Eric M. Morrow, David H. Ledbetter, Éric Fombonne, Catherine Lord, Christa Lese Martin, Andrew I. Brooks, James S. Sutcliffe, Edwin H. Cook, Daniel H. Geschwind, Kathryn Roeder, Bernie Devlin, Matthew W. State - Neuron 2011 被引用: 1,292
- The Integration of Clinical Trials With the Practice of Medicine
著者: Derek C. Angus, Alison J. Huang, Roger Lewis, Amy P. Abernethy, Robert M. Califf, Martin Landray, Nancy Kass, Kirsten Bibbins‐Domingo, Ali Abbasi, Kaleab Z. Abebe, Amy P. Abernethy, Stacey J. Adam, Derek C. Angus, Jamy D. Ard, Michael Berkwits, Rachel Bender Ignacio, Scott Berry, Deepak L. Bhatt, Kirsten Bibbins‐Domingo, Robert O. Bonow, Marc J. M. Bonten, Sharon A. Brangman, John S. Brownstein, Melinda Buntin, Atul J. Butte, Robert M. Califf, Marion Campbell, Anne Rentoumis Cappola, Anne C. Chiang, Deborah Cook, Steven R. Cummings, Gregory Curfman, Laura J. Esserman, Lee A. Fleisher, Joseph B. Franklin, Ralph Gonzalez, Cynthia Grossman, Tufia C. Haddad, Roy S. Herbst, Adrian F. Hernandez, Diane Holder, Leora Horn, Grant D. Huang, Alison J. Huang, Nancy Kass, Rohan Khera, Walter J. Koroshetz, Harlan M. Krumholz, Martin Landray, Roger Lewis, Tracy A. Lieu, Preeti Malani, Christa Lese Martin, Mark McClellan, Mary Mcdermott, Stephanie R. Morain, Susan A. Murphy, Stuart G. Nicholls, Stephen J. Nicholls, Peter J. O’Dwyer, Bhakti K. Patel, Eric C. Peterson, Sheila A. Prindiville, Joseph S. Ross, Kathy Rowan, Gordon D. Rubenfeld, Christopher Seymour, Rod S Taylor, Joanne Waldstreicher, Tracy Y. Wang - JAMA 2024 被引用: 70
- Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines
著者: Pedro J. Gonzalez-Mantilla, Yirui Hu, Scott M. Myers, Brenda Finucane, David H. Ledbetter, Christa Lese Martin, Andrés Moreno-De-Luca - JAMA Pediatrics 2023 被引用: 86
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
著者: Sebastian Köhler, Sandra C. Doelken, Chris Mungall, Sebastian Bauer, Helen V. Firth, Isabelle Bailleul‐Forestier, Graeme C. Black, Danielle L. Brown, Michael Brudno, Jennifer Campbell, David Fitzpatrick, Janan T. Eppig, Andrew P. Jackson, Kathleen Freson, Marta Gîrdea, Ingo Helbig, Jane A. Hurst, Johanna Jähn, Laird G. Jackson, Anne M. Kelly, David H. Ledbetter, Sahar Mansour, Christa Lese Martin, Celia Moss, Andrew Mumford, Willem H. Ouwehand, Soo-Mi Park, Erin Rooney Riggs, Richard H. Scott, Sanjay M. Sisodiya, Steven Van Vooren, Ronald J. Wapner, Andrew O.M. Wilkie, Caroline F. Wright, Anneke T. Vulto‐van Silfhout, Nicole de Leeuw, Bert B.A. de Vries, Nicole L. Washingthon, Cynthia L. Smith, Monte Westerfield, Paul N. Schofield, Barbara J. Ruef, Georgios V. Gkoutos, Melissa Haendel, Damian Smedley, Suzanna Lewis, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2013 被引用: 837
- Insufficient Evidence for “Autism-Specific” Genes
著者: Scott M. Myers, Thomas D. Challman, Raphael Bernier, Thomas Bourgeron, Wendy K. Chung, John N. Constantino, Evan E. Eichler, Sébastien Jacquemont, David T. Miller, Kevin J. Mitchell, Huda Y. Zoghbi, Christa Lese Martin, David H. Ledbetter - The American Journal of Human Genetics 2020 被引用: 169
- Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
著者: Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Zghal Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin J. Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa Lese Martin - JAMA 2021 被引用: 123
- Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
著者: Virpi Leppä, Stephanie N. Kravitz, Christa Lese Martin, Joris Andrieux, Cédric Le Caignec, Dominique Martin‐Coignard, Christina T. DyBuncio, Stephan Sanders, Jennifer K. Lowe, Rita M. Cantor, Daniel H. Geschwind - The American Journal of Human Genetics 2016 被引用: 231
