ClinVar Is a Critical Resource to Advance Variant Interpretation

por Rehm, Heidi L., Harrison, Steven M., Martin, Christa L.
Publicado 2017

A Dynamic Database of Microarray-Characterized Cell Lines with Various Cytogenetic and Genomic Backgrounds

por Tang, Zhenya, Berlin, Dorit S., Toji, Lorraine, Toruner, Gokce A., Beiswanger, Christine, Kulkarni, Shashikant, Martin, Christa L., Emanuel, Beverly S., Christman, Michael, Gerry, Norman P.
Publicado 2013

Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

por Hermetz, Karen E., Newman, Scott, Conneely, Karen N., Martin, Christa L., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Rudd, M. Katharine
Publicado 2014

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

por Azzariti, Danielle R., Riggs, Erin Rooney, Niehaus, Annie, Rodriguez, Laura Lyman, Ramos, Erin M., Kattman, Brandi, Landrum, Melissa J., Martin, Christa L., Rehm, Heidi L.
Publicado 2018

Professional Responsibilities Regarding the Provision, Publication and Dissemination of Patient Phenotypes in the Context of Clinical Genetic and Genomic Testing: Points to Conside...

por Bush, Lynn W., Beck, Anita E., Biesecker, Leslie G., Evans, James P., Hamosh, Ada, Holm, Ingrid A., Martin, Christa L., Richards, C. Sue, Rehm, Heidi L.
Publicado 2018

Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records

por Carry, Brendan J., Young, Katelyn, Fielden, Samuel, Kelly, Melissa A., Sturm, Amy C., Avila, J. David, Martin, Christa L., Kirchner, H. Lester, Fornwalt, Brandon K., Haggerty, Christopher M.
Publicado 2021

Evolution of a Bitter Taste Receptor Gene Cluster in a New World Sparrow

por Davis, Jamie K., Lowman, Josh J., Thomas, Pamela J., ten Hallers, Boudewijn F. H., Koriabine, Maxim, Huynh, Lynn Y., Maney, Donna L., de Jong, Pieter J., Martin, Christa L., Thomas, James W.
Publicado 2010

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

por Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.
Publicado 2019

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

por Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.
Publicado 2020

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

por Jones, Laney K., Strande, Natasha T., Calvo, Evan M., Chen, Jingheng, Rodriguez, Gabriela, McCormick, Cara Z., Hallquist, Miranda L. G., Savatt, Juliann M., Rocha, Heather, Williams, Marc S., Sturm, Amy C., Buchanan, Adam H., Glasgow, Russell E., Martin, Christa L., Rahm, Alanna Kulchak
Publicado 2022

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

por Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.
Publicado 2018

Clinical outcomes of a genomic screening program for actionable genetic conditions

por Buchanan, Adam H., Lester Kirchner, H., Schwartz, Marci L. B., Kelly, Melissa A., Schmidlen, Tara, Jones, Laney K., Hallquist, Miranda L. G., Rocha, Heather, Betts, Megan, Schwiter, Rachel, Butry, Loren, Lazzeri, Amanda L., Frisbie, Lauren R., Rahm, Alanna Kulchak, Hao, Jing, Willard, Huntington F., Martin, Christa L., Ledbetter, David H., Williams, Marc S., Sturm, Amy C.
Publicado 2020

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease m...

por Roberts, Angharad M, DiStefano, Marina T., Riggs, Erin Rooney, Josephs, Katherine S, Alkuraya, Fowzan S, Amberger, Joanna, Amin, Mutaz, Berg, Jonathan S., Cunningham, Fiona, Eilbeck, Karen, Firth, Helen V., Foreman, Julia, Hamosh, Ada, Hay, Eleanor, Leigh, Sarah, Martin, Christa L., McDonagh, Ellen M., Perrett, Daniel, Ramos, Erin M., Robinson, Peter N., Rath, Ana, van Sant, David, Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.
Publicado 2023

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

por DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone US., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, T Michael., Rehm, Heidi L.
Publicado 2022

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

por Köhler, Sebastian, Doelken, Sandra C., Mungall, Christopher J., Bauer, Sebastian, Firth, Helen V., Bailleul-Forestier, Isabelle, Black, Graeme C. M., Brown, Danielle L., Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R., Eppig, Janan T., Jackson, Andrew P., Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A., Jähn, Johanna, Jackson, Laird G., Kelly, Anne M., Ledbetter, David H., Mansour, Sahar, Martin, Christa L., Moss, Celia, Mumford, Andrew, Ouwehand, Willem H., Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H., Sisodiya, Sanjay, Vooren, Steven Van, Wapner, Ronald J., Wilkie, Andrew O. M., Wright, Caroline F., Vulto-van Silfhout, Anneke T., de Leeuw, Nicole, de Vries, Bert B. A., Washingthon, Nicole L., Smith, Cynthia L., Westerfield, Monte, Schofield, Paul, Ruef, Barbara J., Gkoutos, Georgios V., Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E., Robinson, Peter N.
Publicado 2014