Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
Liu, Pengfei, Erez, Ayelet, Nagamani, Sandesh C. Sreenath, Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P.J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin
Published in Cell (16.09.2011)
Published in Cell (16.09.2011)
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De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Autism and increased paternal age related changes in global levels of gene expression regulation
Alter, Mark D, Kharkar, Rutwik, Ramsey, Keri E, Craig, David W, Melmed, Raun D, Grebe, Theresa A, Bay, R Curtis, Ober-Reynolds, Sharman, Kirwan, Janet, Jones, Josh J, Turner, J Blake, Hen, Rene, Stephan, Dietrich A
Published in PloS one (17.02.2011)
Published in PloS one (17.02.2011)
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Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children
Pedersen, Anita, Pettygrove, Sydney, Meaney, F John, Mancilla, Kristen, Gotschall, Kathy, Kessler, Daniel B, Grebe, Theresa A, Cunniff, Christopher
Published in Pediatrics (Evanston) (01.03.2012)
Published in Pediatrics (Evanston) (01.03.2012)
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
del Gaudio, Daniela, Fang, Ping, Scaglia, Fernando, Ward, Patricia A, Craigen, William J, Glaze, Daniel G, Neul, Jeffrey L, Patel, Ankita, Lee, Jennifer A, Irons, Mira, Berry, Susan A, Pursley, Amber A, Grebe, Theresa A, Freedenberg, Debra, Martin, Rick A, Hsich, Gary E, Khera, Jena R, Friedman, Neil R, Zoghbi, Huda Y, Eng, Christine M, Lupski, James R, Beaudet, Arthur L, Cheung, Sau Wai, Roa, Benjamin B
Published in Genetics in medicine (01.12.2006)
Published in Genetics in medicine (01.12.2006)
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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A, van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B, Destree, Anne, Smigiel, Robert, Lambie, Lindsday A, Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G, Mihci, Ercan, Moreira, Lilia M A, Borges Ferreira, Viviane, Horovitz, Dafne D G, da Rocha, Katia M, Jezela-Stanek, Aleksandra, Brooks, Alice S, Reutter, Heiko, Cohen, Julie S, Fatemi, Ali, Smitka, Martin, Grebe, Theresa A, Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A, De Vries, Bert B A, Schinzel, Albert, Fisher, Simon E, Hoischen, Alexander, van Bon, Bregje W
Published in PLoS genetics (27.03.2017)
Published in PLoS genetics (27.03.2017)
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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.
Published in American journal of medical genetics. Part A (01.03.2010)
Published in American journal of medical genetics. Part A (01.03.2010)
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Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome
Van Stechelman, Payge, Wilson, Bridget, Grebe, Theresa A., Jaffery, Syed, Bauer, Cindy S.
Published in Annals of allergy, asthma, & immunology (01.07.2024)
Published in Annals of allergy, asthma, & immunology (01.07.2024)
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A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation
Peter, Beate, Scherer, Nancy, Liang, Winnie S., Pophal, Stephen, Nielsen, Colby, Grebe, Theresa A.
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Grebe, Theresa A., Khushf, George, Chen, Margaret, Bailey, Dawn, Brenman, Leslie Manace, Williams, Marc S., Seaver, Laurie H.
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
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Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Grebe, Theresa A., Khushf, George, Greally, John M., Turley, Patrick, Foyouzi, Nastaran, Rabin-Havt, Sara, Berkman, Benjamin E., Pope, Kathleen, Vatta, Matteo, Kaur, Shagun
Published in Genetics in medicine (01.04.2024)
Published in Genetics in medicine (01.04.2024)
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Response to Widen et al
Grebe, Theresa A, Khushf, George, Greally, John M, Turley, Patrick, Foyouzi, Nastaran, Rabin-Havt, Sara, Berkman, Benjamin, Pope, Kathleen, Vatta, Matteo, Kaur, Shagun
Published in Genetics in medicine (01.08.2024)
Published in Genetics in medicine (01.08.2024)
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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña‐Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko
Published in Human mutation (01.01.2017)
Published in Human mutation (01.01.2017)
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Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Best, Robert G., Khushf, George, Rabin-Havt, Sara Schonfeld, Clayton, Ellen Wright, Grebe, Theresa A., Hagenkord, Jill, Topper, Scott, Fivecoat, Jaime, Chen, Margaret, Grody, Wayne W.
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Patel, Ankita, Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan, Shen, Joseph, Kang, Sung-Hae L, Pursley, Amber, Lotze, Timothy, Kennedy, Gail, Lansky-Shafer, Susan, Weaver, Christine, Roeder, Elizabeth R, Grebe, Theresa A, Arnold, Georgianne L, Hutchison, Terry, Reimschisel, Tyler, Amato, Stephen, Geragthy, Michael T, Innis, Jeffrey W, Obersztyn, Ewa, Nowakowska, Beata, Rosengren, Sally S, Bader, Patricia I, Grange, Dorothy K, Naqvi, Sayed, Garnica, Adolfo D, Bernes, Saunder M, Fong, Chin-To, Summers, Anne, Walters, W David, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai
Published in Nature genetics (01.12.2008)
Published in Nature genetics (01.12.2008)
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