Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Manickam, Kandamurugu, McClain, Monica R, Demmer, Laurie A, Biswas, Sawona, Kearney, Hutton M, Malinowski, Jennifer, Massingham, Lauren J, Miller, Danny, Yu, Timothy W, Hisama, Fuki M
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Professional medical education and genomics
Demmer, Laurie A, Waggoner, Darrel J
Published in Annual review of genomics and human genetics (01.01.2014)
Published in Annual review of genomics and human genetics (01.01.2014)
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Journal Article
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
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
Published in Clinical epigenetics (27.04.2019)
Published in Clinical epigenetics (27.04.2019)
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Journal Article
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
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
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
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Journal Article
Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders
Kang, Seok Kyu, Vanoye, Carlos G., Misra, Sunita N., Echevarria, Dennis M., Calhoun, Jeffrey D., O'Connor, John B., Fabre, Katarina L., McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E., Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A., Torkamani, Ali, der Smagt, Jasper, Gassen, Koen, Carson, Robert P., Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E., Hannibal, Mark C., Litwin, Jessica, Friedman, Neil R., Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D., Goldberg, Ethan M., Millichap, John J., George, Alfred L., Kearney, Jennifer A.
Published in Annals of neurology (01.12.2019)
Published in Annals of neurology (01.12.2019)
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Journal Article
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
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.
Published in American journal of human genetics (12.11.2010)
Published in American journal of human genetics (12.11.2010)
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Journal Article
Clinical genetic testing for patients with autism spectrum disorders
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, 3rd, 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
Published in Pediatrics (Evanston) (01.04.2010)
Published in Pediatrics (Evanston) (01.04.2010)
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Journal Article
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
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
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Journal Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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.
Published in Human mutation (01.07.2016)
Published in Human mutation (01.07.2016)
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Journal Article
Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014
Korf, Bruce R, Blitzer, Miriam G, Demmer, Laurie A, Feldman, Gerald L, Watson, Michael S
Published in Genetics in medicine (01.09.2017)
Published in Genetics in medicine (01.09.2017)
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Journal Article
Conference Proceeding
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications
Swartwood, Shanna M, Morales, Ana, Hatchell, Kathryn E, Moretz, Chad, McKnight, Dianalee, Demmer, Laurie, Chagnon, Sarah, Aradhya, Swaroop, Esplin, Edward D, Bonkowsky, Joshua L
Published in Epilepsia open (01.02.2024)
Published in Epilepsia open (01.02.2024)
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Journal Article
Mouse model implicates GNB3 duplication in a childhood obesity syndrome
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
Published in Proceedings of the National Academy of Sciences - PNAS (10.09.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (10.09.2013)
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Journal Article
Keratoconus in Costello Syndrome
Gripp, Karen W., Demmer, Laurie A.
Published in American journal of medical genetics. Part A (01.05.2013)
Published in American journal of medical genetics. Part A (01.05.2013)
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Journal Article
Lessons learned from the introduction of personalized genotyping into a medical school curriculum
Walt, David R., Kuhlik, Amy, Epstein, Scott K., Demmer, Laurie A., Knight, Meredith, Chelmow, David, Rosenblatt, Michael, Bianchi, Diana W.
Published in Genetics in medicine (01.01.2011)
Published in Genetics in medicine (01.01.2011)
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Journal Article
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism
Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A., Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.
Published in American journal of medical genetics. Part A (01.03.2009)
Published in American journal of medical genetics. Part A (01.03.2009)
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Journal Article
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia
Lin, Angela E., O'Brien, Barbara, Demmer, Laurie A., Almeda, Kristina K., Blanco, Cynthia L., Glasow, Patrick F., Berul, Charles I., Hamilton, Robert, Micheil Innes, A., Lauzon, Julie L., Sol-Church, Katia, Gripp, Karen W.
Published in Prenatal diagnosis (01.07.2009)
Published in Prenatal diagnosis (01.07.2009)
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Journal Article