Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014

Autor Korf, Bruce R, Blitzer, Miriam G, Demmer, Laurie A, Feldman, Gerald L, Watson, Michael S
Vydáno v Genet Med (2017)

A Description of Spina Bifida Cases and Co-Occurring Malformations, 1976–2011

Autor Parker, Samantha E., Yazdy, Mahsa M., Mitchell, Allen A., Demmer, Laurie A., Werler, Martha M.
Vydáno v Am J Med Genet A (2013)

Maternal Tea Consumption during Early Pregnancy and the Risk of Spina Bifida

Autor Yazdy, Mahsa M., Tinker, Sarah C., Mitchell, Allen A., Demmer, Laurie A., Werler, Martha M.
Vydáno v Birth Defects Res A Clin Mol Teratol (2012)

Male to Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father with Somatic Mosaicism

Autor Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A, Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.
Vydáno 2009

Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

Autor Lin, Angela E., O’Brien, Barbara, Demmer, Laurie A., Almeda, Kristina K., Blanco, Cynthia L., Glasow, Patrick F., Berul, Charles I., Hamilton, Robert, Innes, A. Micheil, Lauzon, Julie L., Sol-Church, Katia, Gripp, Karen W.
Vydáno v Prenat Diagn (2009)

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Autor Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia M., Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie A., Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan E., Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan S., Anikster, Yair, Saltiel, Alan R., Distelmaier, Felix
Vydáno v Am J Hum Genet (2020)

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Autor Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., Sadikovic, Bekim
Vydáno v Clin Epigenetics (2019)

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Autor Goldlust, Ian S., Hermetz, Karen E., Catalano, Lisa M., Barfield, Richard T., Cozad, Rebecca, Wynn, Grace, Ozdemir, Alev Cagla, Conneely, Karen N., Mulle, Jennifer G., Dharamrup, Shikha, Hegde, Madhuri R., Kim, Katherine H., Angle, Brad, Colley, Alison, Webb, Amy E., Thorland, Erik C., Ellison, Jay W., Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Demmer, Laurie A., Rudd, M. Katharine, Searle, Beverly A, Wynn, Sarah L.
Vydáno 2013

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Autor Platzer, Konrad, Sticht, Heinrich, Edwards, Stacey L., Allen, William, Angione, Kaitlin M., Bonati, Maria T., Brasington, Campbell, Cho, Megan T., Demmer, Laurie A., Falik-Zaccai, Tzipora, Gamble, Candace N., Hellenbroich, Yorck, Iascone, Maria, Kok, Fernando, Mahida, Sonal, Mandel, Hanna, Marquardt, Thorsten, McWalter, Kirsty, Panis, Bianca, Pepler, Alexander, Pinz, Hailey, Ramos, Luiza, Shinde, Deepali N., Smith-Hicks, Constance, Stegmann, Alexander P.A., Stöbe, Petra, Stumpel, Constance T.R.M., Wilson, Carolyn, Lemke, Johannes R., Di Donato, Nataliya, Miller, Kenneth G., Jamra, Rami
Vydáno v Am J Hum Genet (2019)

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Autor Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.
Vydáno 2010

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Autor Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.
Vydáno 2011

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Autor Shen, Yiping, Dies, Kira A., Holm, Ingrid A., Bridgemohan, Carolyn, Sobeih, Magdi M., Caronna, Elizabeth B., Miller, Karen J., Frazier, Jean A., Silverstein, Iris, Picker, Jonathan, Weissman, Laura, Raffalli, Peter, Jeste, Shafali, Demmer, Laurie A., Peters, Heather K., Brewster, Stephanie J., Kowalczyk, Sara J., Rosen-Sheidley, Beth, McGowan, Caroline, Duda, Andrew W., Lincoln, Sharyn A., Lowe, Kathryn R., Schonwald, Alison, Robbins, Michael, Hisama, Fuki, Wolff, Robert, Becker, Ronald, Nasir, Ramzi, Urion, David K., Milunsky, Jeff M., Rappaport, Leonard, Gusella, James F., Walsh, Christopher A., Wu, Bai-Lin, Miller, David T.
Vydáno v Pediatrics (2010)

ALG1-CDG: Clinical and molecular characterization of 39 unreported patients

Autor Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.
Vydáno v Hum Mutat (2016)

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Autor Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Ousager, Lilian Bomme, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Aldea, Juan José Poza, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Spitale, Allison Brennan, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn
Vydáno 2012