A dyadic approach to the delineation of diagnostic entities in clinical genomics
Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.
Published in American journal of human genetics (07.01.2021)
Published in American journal of human genetics (07.01.2021)
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Journal Article
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
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Journal Article
Web Resource
MED12 related disorders
Graham Jr, John M., Schwartz, Charles E.
Published in American journal of medical genetics. Part A (01.11.2013)
Published in American journal of medical genetics. Part A (01.11.2013)
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Journal Article
Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis
Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Journal Article
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (01.07.2014)
Published in American journal of medical genetics. Part A (01.07.2014)
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Journal Article
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Mirzaa, Ghayda M., Conway, Robert L., Gripp, Karen W., Lerman-Sagie, Tally, Siegel, Dawn H., deVries, Linda S., Lev, Dorit, Kramer, Nancy, Hopkins, Elizabeth, Graham Jr, John M., Dobyns, William B.
Published in American journal of medical genetics. Part A (01.02.2012)
Published in American journal of medical genetics. Part A (01.02.2012)
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Journal Article
The NuRD complex and macrocephaly associated neurodevelopmental disorders
Pierson, Tyler Mark, Otero, Maria G., Grand, Katheryn, Choi, Andrew, Graham, John M., Young, Juan I., Mackay, Joel P.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Journal Article
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
NAMAVAR, Yasmin, BARTH, Peter G, BASEL-VANAGAITE, Lina, EGGENS, Veerle R. C, KRÄGELOH-MANN, Ingeborg, DE MEIRLEIR, Linda, KING, Mary, GRAHAM JR, John M, VON MOERS, Arpad, KNOERS, Nine, SZTRIHA, Laszlo, KORINTHENBERG, Rudolf, KASHER, Paul R, DOBYNS, William B, BAAS, Frank, TIEN POLL-THE, Bwee, VAN RUISSEN, Fred, BROCKMANN, Knut, BERNERT, Günther, WRITZL, Karin, VENTURA, Karen, CHENG, Edith Y, FERRIERO, Donna M
Published in Brain (London, England : 1878) (01.01.2011)
Published in Brain (London, England : 1878) (01.01.2011)
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Journal Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
Shaffer, Lisa G, Ballif, Blake C, Hornor, Sara A, Jenkins, Elizabeth, Madan-Khetarpal, Suneeta, Surti, Urvashi, Jackson, Kelly E, Asamoah, Alexander, Brock, Pamela L, Gowans, Gordon C, Conway, Robert L, Graham, John M, Medne, Livija, Zackai, Elaine H, Shaikh, Tamim H, Geoghegan, Joel, Selzer, Rebecca R, Eis, Peggy S, Bejjani, Bassem A
Published in Nature genetics (01.09.2007)
Published in Nature genetics (01.09.2007)
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Journal Article
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
Verscaj, Courtney P, Velez-Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J, Thorson, Willa, Tan, Wen-Hann, Rodig, Nancy, Graham, Jr, John M, Peron, Angela, Quintero-Rivera, Fabiola, Zackai, Elaine H, Thomas, Mary Ann, Stevens, Cathy A, Adam, Margaret P, Bird, Lynne M, Jones, Marilyn C, Matalon, Dena R
Published in Prenatal diagnosis (01.02.2024)
Published in Prenatal diagnosis (01.02.2024)
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Journal Article
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
Chen, Wenjuan, Shieh, Christine, Swanger, Sharon A, Tankovic, Anel, Au, Margaret, McGuire, Marianne, Tagliati, Michele, Graham, John M, Madan-Khetarpal, Suneeta, Traynelis, Stephen F, Yuan, Hongjie, Pierson, Tyler Mark
Published in Journal of human genetics (01.06.2017)
Published in Journal of human genetics (01.06.2017)
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Journal Article
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan J., McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad Abou, Zhe, Zhang, Abdul‐Rahman, Omar, Allen, Bill, Angula, Moris A., Anyane‐Yeboa, Kwame, Argente, Jesús, Arn, Pamela H., Armstrong, Linlea, Basel‐Salmon, Lina, Baynam, Gareth, Bird, Lynne M., Bruegger, Daniel, Ch'ng, Gaik‐Siew, Chitayat, David, Clark, Robin, Cox, Gerald F., Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham Jr, John M., Gripp, Karen W., Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert J., Jones, Kenneth L., Jones, Marilyn C., Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally Ann, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia M., Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan F., Sangha, Karan, Scheuerle, Angela E., Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia G., White, Susan M., Young, Terri, Loomes, Kathleen M., Pipan, Mary, Harrington, Ann Tokay, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew A., McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie D., Izumi, Kosuke, Raible, Sarah E., Krantz, Ian D.
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
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Journal Article
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Friez, Michael J, Risheg, Hiba, Graham, John M, Clark, Robin D, Rogers, R Curtis, Opitz, John M, Moeschler, John B, Peiffer, Andreas P, May, Melanie, Joseph, Sumy M, Jones, Julie R, Stevenson, Roger E, Schwartz, Charles E
Published in Nature genetics (01.04.2007)
Published in Nature genetics (01.04.2007)
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Journal Article
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
McDonell, Laura M, Mirzaa, Ghayda M, Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T, Lee, Leo J, Clericuzio, Carol L, Graham, Jr, John M, Morris-Rosendahl, Deborah J, Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, David, Albert, Smyser, Christopher D, Paciorkowski, Alex R, Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L, Marcadier, Janet, Geraghty, Michael T, Frey, Brendan J, Majewski, Jacek, Bulman, Dennis E, Dobyns, William B, O'Driscoll, Mark, Boycott, Kym M
Published in Nature genetics (01.05.2013)
Published in Nature genetics (01.05.2013)
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Journal Article
Non-Cystic Fibrosis−Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing
Woods, Jeremy D., Payton, Kurlen S.E., Sanchez-Lara, Pedro A., Au, Margaret, Simmons, Charles F., Graham, John M.
Published in The Journal of pediatrics (01.08.2019)
Published in The Journal of pediatrics (01.08.2019)
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Journal Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
RIVIERE, Jean-Baptiste, MIRZAA, Ghayda M, WORTHYLAKE, Thea, SULLIVAN, Christopher T, WARD, Thomas R, BUTLER, Hailly E, KRAMER, Nancy A, ALBRECHT, Beate, ARMOUR, Christine M, ARMSTRONG, Linlea, CALUSERIU, Oana, CYTRYNBAUM, Cheryl, O'ROAK, Brian J, DROLET, Beth A, INNES, Amicheil, LAUZON, Juliel, LIN, Angela E, MANCINI, Grazia M. S, MESCHINO, Wendy S, REGGIN, James D, SAGGAR, Anand K, LERMAN-SAGIE, Tally, UYANIK, Gokhan, BEDDAOUI, Margaret, WEKSBERG, Rosanna, ZIRN, Birgit, BEAULIEU, Chandree L, MAJEWSKI, Jacek, BULMAN, Dennis E, O'DRISCOLL, Mark, SHENDURE, Jay, GRAHAM, John M, BOYCOTT, Kym M, DOBYNS, William B, ALCANTARA, Diana, CONWAY, Robert L, ST-ONGE, Judith, SCHWARTZENTRUBER, Jeremy A, GRIPP, Karen W, NIKKEL, Sarah M
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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