A copy number variation morbidity map of developmental delay
Hamid, Rizwan, Baker, Carl, McCracken, Elizabeth, Stalker, Heather, Eichler, Evan E, Hummel, Marybeth, Ballif, Blake C, Coe, Bradley P, Bader, Patricia, Girirajan, Santhosh, Kussmann, Jennifer, Rosenfeld, Jill A, Cooper, Gregory M, Shashi, Vandana, Abdel-Hamid, Hoda, Williams, Charles, Leppig, Kathleen, Alexander, Nora, Gorski, Jerome, Niyazov, Dmitriy, Hannig, Vickie, Rehder, Catherine, Shaffer, Lisa G, Johnson, Krys, Thiese, Heidi, Vu, Tiffany H
Published in Nature genetics (01.09.2011)
Published in Nature genetics (01.09.2011)
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Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients
Chowdhury, Shimul, Bandholz, Anne M., Parkash, Sandhya, Dyack, Sarah, Rideout, Andrea L., Leppig, Kathleen A., Thiese, Heidi, Wheeler, Patricia G., Tsang, Marilyn, Ballif, Blake C., Shaffer, Lisa G., Torchia, Beth S., Ellison, Jay W., Rosenfeld, Jill A.
Published in American journal of medical genetics. Part A (01.01.2014)
Published in American journal of medical genetics. Part A (01.01.2014)
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Building a family network from genetic testing
Leppig, Kathleen A., Thiese, Heidi A., Carrel, David, Crosslin, David R., Dorschner, Michael O., Gordon, Adam S., Hartzler, Andrea, Ralston, James, Scrol, Aaron, Larson, Eric B., Jarvik, Gail P.
Published in Molecular genetics & genomic medicine (01.03.2017)
Published in Molecular genetics & genomic medicine (01.03.2017)
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome
Messiaen, Ludwine, Yao, Suxia, Brems, Hilde, Callens, Tom, Sathienkijkanchai, Achara, Denayer, Ellen, Spencer, Emily, Arn, Pamela, Babovic-Vuksanovic, Dusica, Bay, Carolyn, Bobele, Gary, Cohen, Bruce H, Escobar, Luis, Eunpu, Deborah, Grebe, Theresa, Greenstein, Robert, Hachen, Rachel, Irons, Mira, Kronn, David, Lemire, Edmond, Leppig, Kathleen, Lim, Cynthia, McDonald, Marie, Narayanan, Vinodh, Pearn, Amy, Pedersen, Robert, Powell, Berkley, Shapiro, Lawrence R, Skidmore, David, Tegay, David, Thiese, Heidi, Zackai, Elaine H, Vijzelaar, Raymon, Taniguchi, Koji, Ayada, Toranoshin, Okamoto, Fuyuki, Yoshimura, Akihiko, Parret, Annabel, Korf, Bruce, Legius, Eric
Published in JAMA : the journal of the American Medical Association (18.11.2009)
Published in JAMA : the journal of the American Medical Association (18.11.2009)
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The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network
Leppig, Kathleen A., Kulchak Rahm, Alanna, Appelbaum, Paul, Aufox, Sharon, Bland, Harris T., Buchanan, Adam, Christensen, Kurt D., Chung, Wendy K., Clayton, Ellen Wright, Crosslin, David, Denny, Josh, DeVange, Shannon, Gordon, Adam, Green, Robert C., Hakonarson, Hakon, Harr, Margaret H., Henrikson, Nora, Hoell, Christin, Holm, Ingrid A., Kullo, Iftikhar J., Jarvik, Gail P., Lammers, Philip E., Larson, Eric B., Lindor, Noralane M., Marasa, Maddalena, Myers, Melanie F., Perez, Emma, Peterson, Josh F., Pratap, Siddharth, Prows, Cynthia A., Ralston, James D., Rasouly, Hila Milo, Roden, Dan M., Sharp, Richard R., Singh, Rajbir, Shaibi, Gabriel, Smith, Maureen E., Sturm, Amy, Thiese, Heidi A., Van Driest, Sara L., Williams, Janet, Williams, Marc S., Wynn, Julia, Blout Zawatsky, Carrie L., Wiesner, Georgia L.
Published in Genetics in medicine (01.05.2022)
Published in Genetics in medicine (01.05.2022)
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Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller, Kory, Meschino, Wendy, Bejjani, Bassem A, Torchia, Beth S, Shaffer, Lisa G
Published in Genetics in medicine (01.11.2009)
Published in Genetics in medicine (01.11.2009)
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Corrigendum: A copy number variation morbidity map of developmental delay
Cooper, Gregory M, Coe, Bradley P, Girirajan, Santhosh, Rosenfeld, Jill A, Vu, Tiffany H, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Patricia, McCracken, Elizabeth, Niyazov, Dmitriy, Leppig, Kathleen, Thiese, Heidi, Hummel, Marybeth, Alexander, Nora, Gorski, Jerome, Kussmann, Jennifer, Shashi, Vandana, Johnson, Krys, Rehder, Catherine, Ballif, Blake C, Shaffer, Lisa G, Eichler, Evan E
Published in Nature genetics (01.09.2014)
Published in Nature genetics (01.09.2014)
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