Molecular Cytogenetic Analysis of Telomere Rearrangements

Por Martin, Christa Lese, Ledbetter, David H.
Publicado no Curr Protoc Hum Genet (2015)

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis

Por Riggs, Erin Rooney, Ledbetter, David H., Martin, Christa Lese
Publicado em 2014

Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders

Por Finucane, Brenda, Challman, Thomas D., Martin, Christa Lese, Ledbetter, David H.
Publicado no Genet Med (2016)

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

Por Gonzalez-Mantilla, Andrea J., Moreno-De-Luca, Andres, Ledbetter, David H., Martin, Christa Lese
Publicado no JAMA Psychiatry (2016)

The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin

Por Martin, Christa Lese, Wong, Andrew, Gross, Alyssa, Chung, June, Fantes, Judy A., Ledbetter, David H.
Publicado em 2002

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

Por Carr, Christopher W, Moreno-De-Luca, Daniel, Parker, Colette, Zimmerman, Holly H, Ledbetter, Nikki, Martin, Christa Lese, Dobyns, William B, Abdul-Rahman, Omar A
Publicado em 2010

GenomeConnect: matchmaking between patients, clinical laboratories and researchers to improve genomic knowledge

Por Kirkpatrick, Brianne E., Riggs, Erin Rooney, Azzariti, Danielle R., Miller, Vanessa Rangel, Ledbetter, David H., Miller, David T., Rehm, Heidi, Martin, Christa Lese, Faucett, W. Andrew
Publicado no Hum Mutat (2015)

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

Por Riggs, Erin Rooney, Azzariti, Danielle R., Niehaus, Annie, Goehringer, Scott R., Ramos, Erin M., Rodriguez, Laura Lyman, Knoppers, Bartha, Rehm, Heidi L., Martin, Christa Lese
Publicado no Genet Med (2018)

Chromosomal imbalances in oral squamous cell carcinoma. Examination of 31 cell lines and review of the literature

Por Martin, Christa Lese, Reshmi, Shalini C., Ried, Thomas, Gottberg, William, Wilson, John W., Reddy, Jaya K., Khanna, Poornima, Johnson, Jonas T., Myers, Eugene N., Gollin, Susanne M.
Publicado em 2007

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting

Por Riggs, Erin Rooney, Wain, Karen E., Riethmaier, Darlene, Savage, Melissa, Smith-Packard, Bethanny, Kaminsky, Erin B., Rehm, Heidi L., Martin, Christa Lese, Ledbetter, David H., Faucett, W. Andrew
Publicado em 2013

Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index

Por Hare-Harris, Abby E., Mitchel, Marissa W., Myers, Scott M., Mitchel, Aaron D., King, Brian R., Ruocco, Brittany G., Martin, Christa Lese, Flax, Judy F., Brzustowicz, Linda M.
Publicado no J Neurodev Disord (2019)

The Influence of Clinical and Demographic Risk Factors on the Establishment of Head and Neck Squamous Cell Carcinoma Cell Lines

Por White, Jason S., Weissfeld, Joel L., Ragin, Camille C. R., Rossie, Karen M., Martin, Christa Lese, Shuster, Michele, Ishwad, Chandramohan S., Law, John C., Myers, Eugene N., Johnson, Jonas T., Gollin, Susanne M.
Publicado em 2006

Rare copy number variation in cerebral palsy

Por McMichael, Gai, Girirajan, Santhosh, Moreno-De-Luca, Andres, Gecz, Jozef, Shard, Chloe, Nguyen, Lam Son, Nicholl, Jillian, Gibson, Catherine, Haan, Eric, Eichler, Evan, Martin, Christa Lese, MacLennan, Alastair
Publicado em 2014

A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

Por Villard, Laurent, Nguyen, Karine, Cardoso, Carlos, Martin, Christa Lese, Weiss, Ann M., Sifry-Platt, Mara, Grix, Arthur W., Graham, Jr., John M., Winter, Robin M., Leventer, Richard J., Dobyns, William B.
Publicado em 2002

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

Por Leppa, Virpi M., Kravitz, Stephanie N., Martin, Christa Lese, Andrieux, Joris, Le Caignec, Cedric, Martin-Coignard, Dominique, DyBuncio, Christina, Sanders, Stephan J., Lowe, Jennifer K., Cantor, Rita M., Geschwind, Daniel H.
Publicado no Am J Hum Genet (2016)

ClinGen — The Clinical Genome Resource

Por Rehm, Heidi L., Berg, Jonathan S., Brooks, Lisa D., Bustamante, Carlos D., Evans, James P., Landrum, Melissa J., Ledbetter, David H., Maglott, Donna R., Martin, Christa Lese, Nussbaum, Robert L., Plon, Sharon E., Ramos, Erin M., Sherry, Stephen T., Watson, Michael S.
Publicado no N Engl J Med (2015)

ClinGen’s GenomeConnect Registry Enables Patient-Centered Data Sharing

Por Savatt, Juliann M., Azzariti, Danielle R., Faucett, W. Andrew, Harrison, Steven, Hart, Jennifer, Kattman, Brandi, Landrum, Melissa J., Ledbetter, David H., Miller, Vanessa Rangel, Palen, Emily, Rehm, Heidi L., Rhode, Jud, Turner, Stefanie, Vidal, Jo Anne, Wain, Karen E., Riggs, Erin Rooney, Martin, Christa Lese
Publicado no Hum Mutat (2018)

Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources

Por de Leeuw, Nicole, Dijkhuizen, Trijnie, Hehir-Kwa, Jayne Y., Carter, Nigel P., Feuk, Lars, Firth, Helen V., Kuhn, Robert M., Ledbetter, David H., Martin, Christa Lese, van Ravenswaaij-Arts, Conny M. A., Scherer, Steven W., Shams, Soheil, Van Vooren, Steven, Sijmons, Rolf, Swertz, Morris, Hastings, Ros
Publicado no Hum Mutat (2012)

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Por Wapner, Ronald J., Martin, Christa Lese, Levy, Brynn, Ballif, Blake C., Eng, Christine M., Zachary, Julia M., Savage, Melissa, Platt, Lawrence D., Saltzman, Daniel, Grobman, William A., Klugman, Susan, Scholl, Thomas, Simpson, Joe Leigh, McCall, Kimberly, Aggarwal, Vimla S., Bunke, Brian, Nahum, Odelia, Patel, Ankita, Lamb, Allen N., Thom, Elizabeth A., Beaudet, Arthur L., Ledbetter, David H., Shaffer, Lisa G., Jackson, Laird
Publicado em 2012

Loss of delta catenin function in severe autism

Por Turner, Tychele N., Sharma, Kamal, Oh, Edwin C., Liu, Yangfan P., Collins, Ryan L., Sosa, Maria X., Auer, Dallas R., Brand, Harrison, Sanders, Stephan J., Moreno-De-Luca, Daniel, Pihur, Vasyl, Plona, Teri, Pike, Kristen, Soppet, Daniel R., Smith, Michael W., Cheung, Sau Wai, Martin, Christa Lese, State, Matthew W., Talkowski, Michael E., Cook, Edwin, Huganir, Richard, Katsanis, Nicholas, Chakravarti, Aravinda
Publicado no Nature (2015)