Search Results - Dorrani, Naghmeh

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  1. 1
    Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

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

    Published 2009
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  2. 2
    Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers

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

    Published 2019
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  3. 3
    Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome

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

    Published 2020
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  4. 4
    Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

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

    Published 2017
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  5. 5
    PATH-23. GERMLINE GNAS MUTATION IN AN 18-MONTH-OLD WITH MEDULLOBLASTOMA

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

    Published 2018
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  6. 6
    Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

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

    Published 2008
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  7. 7
    A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma

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

    Published 2019
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  8. 8
    De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

    De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing by 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

    Published 2014
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  9. 9
    Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

    Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network by 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

    Published 2018
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  10. 10
    Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder

    Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder by 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

    Published 2016
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  11. 11
    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay by 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.

    Published 2015
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  12. 12
    Novel NUDT2 variant causes intellectual disability and polyneuropathy

    Novel NUDT2 variant causes intellectual disability and polyneuropathy by 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.

    Published 2020
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  13. 13
    Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

    Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders by 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.

    Published 2014
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  14. 14
    New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

    New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome by 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

    Published 2019
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  15. 15
    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome by 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.

    Published 2017
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  16. 16
    Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

    Diagnostic utility of transcriptome sequencing for rare Mendelian diseases by 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.

    Published 2019
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  17. 17
    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay by 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

    Published 2017
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  18. 18
    De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

    De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas by 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

    Published 2020
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  19. 19
    SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals.

    SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. by 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.

    Published 2019
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  20. 20
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome by 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

    Published 2021
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