檢索結果 - Dorrani, Naghmeh

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report 由 Wu, David J, Wang, Nicholas J, Driscoll, Jennette, Dorrani, Naghmeh, Liu, Dahai, Sigman, Marian, Schanen, N Carolyn

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Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers 由 Eno, Celeste C., Barton, Stacey K., Dorrani, Naghmeh, Cederbaum, Stephen D., Deignan, Joshua L., Grody, Wayne W.

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Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome 由 Yazdani, Shahram, Badjatiya, Anish, Dorrani, Naghmeh, Lee, Hane, Grody, Wayne W., Nelson, Stanley F., Dipple, Katrina M.

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Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes 由 Mullegama, Sureni V., Jensik, Phillip, Li, Chen, Dorrani, Naghmeh, Kantarci, Sibel, Blumberg, Bruce, Grody, Wayne W., Strom, Samuel P.

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PATH-23. GERMLINE GNAS MUTATION IN AN 18-MONTH-OLD WITH MEDULLOBLASTOMA 由 Crane, Jacquelyn, Chang, Vivian, Lee, Hane, Yong, William, Salamon, Noriko, Kianmahd, Jessica, Dorrani, Naghmeh, Martinez-Agosto, Julian, Davidson, Tom

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Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15 由 Wang, Nicholas J, Parokonny, Alexander S, Thatcher, Karen N, Driscoll, Jennette, Malone, Barbara M, Dorrani, Naghmeh, Sigman, Marian, LaSalle, Janine M, Schanen, N Carolyn

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A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma 由 Crane, Jacquelyn N., Chang, Vivian Y., Yong, William H., Salamon, Noriko, Lee, Hane, Kianmahd, Jessica, Dorrani, Naghmeh, Martinez-Agosto, Julian A., Davidson, Tom B.

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De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing 由 Strom, Samuel P, Lozano, Reymundo, Lee, Hane, Dorrani, Naghmeh, Mann, John, O’Lague, Patricia F, Mans, Nicole, Deignan, Joshua L, Vilain, Eric, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola

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Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network 由 Palmer, Christina G. S., McConkie-Rosell, Allyn, Holm, Ingrid A., LeBlanc, Kimberly, Sinsheimer, Janet S., Briere, Lauren C., Dorrani, Naghmeh, Herzog, Matthew R., Lincoln, Sharyn, Schoch, Kelly, Spillmann, Rebecca C., Brokamp, Elly

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Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder 由 Bie, Anne S., Fernandez-Guerra, Paula, Birkler, Rune I. D., Nisemblat, Shahar, Pelnena, Dita, Lu, Xinping, Deignan, Joshua L., Lee, Hane, Dorrani, Naghmeh, Corydon, Thomas J., Palmfeldt, Johan, Bivina, Liga, Azem, Abdussalam, Herman, Kristin, Bross, Peter

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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay 由 Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P., Deignan, Joshua L., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.

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Novel NUDT2 variant causes intellectual disability and polyneuropathy 由 Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders 由 Lee, Hane, Deignan, Joshua L., Dorrani, Naghmeh, Strom, Samuel P., Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L., Martinez-Agosto, Julian A., Wong, Derek A., Chang, Vivian Y., Shieh, Perry B., Palmer, Christina G. S., Dipple, Katrina M., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome 由 Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T., Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J., Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W., Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome 由 Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.

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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases 由 Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Asher, Y. Jane Tavyev, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina G. S., Martinez-Agosto, Julian A., Nelson, Stanley F.

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay 由 Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Rosenfeld, Jill A., Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Goldstein, David B., Xiao, Rui, Yang, Yaping, Posey, Jennifer E., Martinez-Agosto, Julian A., Lupski, James R., Wangler, Michael F., Shashi, Vandana

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas 由 Tolchin, Dara, Yeager, Jessica P., Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A., Haseeb, Abdul, Angelozzi, Marco, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Ortiz, Damara, Lancaster, Emily, Krantz, Ian D., Krock, Bryan L., Pechter, Kieran B., Arkader, Alexandre, Medne, Livija, DeChene, Elizabeth T., Calpena, Eduardo, Melistaccio, Giada, Wilkie, Andrew O.M., Suri, Mohnish, Foulds, Nicola, Begtrup, Amber, Henderson, Lindsay B., Forster, Cara, Reed, Patrick, McDonald, Marie T., McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Tsai, Anne C.H., Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Martin-Coignard, Dominique, Stoeva, Radka, Lefebvre, Véronique, Le Caignec, Cédric

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SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. 由 Ng, Bobby G., Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A., Barone, Rita, Botto, Lorenzo D., Burton, Jennifer E., Carlston, Colleen, Hon-Yin Chung, Brian, Cohen, Julie S., Coman, David, Dipple, Katrina M., Dorrani, Naghmeh, Dobyns, William B., Elias, Abdallah F., Epstein, Leon, Gahl, William A., Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E., Hunter, Jesse M., Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher C.Y., McKnight, Dianalee, Mendelsohn, Bryce A., Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F., Olczak, Mariusz, Palmer, Christina G.S., Partikian, Arthur, Patterson, Marc C., Pierson, Tyler M., Quinonez, Shane C., Regan, Brigid M., Ross, M. Elizabeth, Guillen Sacoto, Maria J., Scaglia, Fernando, Scheffer, Ingrid E., Segal, Devorah, Shah Singhal, Nilika, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D., Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A., Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F., Rosenfeld, Jill A., Edmondson, Andrew C., Grunewald, Stephanie, Freeze, Hudson H.

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome 由 Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez-Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul-Rahman, Omar, Alkuraya, Fowzan S., Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary-Alice, Allain, Dawn C., Amlie-Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin-To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah K., Johnson, Amy E. Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell-Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J., Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero-Rivera, Fabiola

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