Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)
Assia Batzir, Nurit, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily, Holtrop, Shannon G., Mizerik, Elizabeth, Nieto Moreno, Margarita, Payne, Katelyn, Raas‐Rothschild, Annick, Scott, Richard, Vernon, Hilary J., Zadeh, Neda, Lupski, James R., Sutton, V. Reid
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
Get full text
Journal Article
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder
Graham Jr, John M., Zadeh, Neda, Kelley, Melissa, Tan, Ee Shien, Liew, Wendy, Tan, Victoria, Deardorff, Matthew A., Wilson, Golder N., Sagi-Dain, Lena, Shalev, Stavit A.
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
Get full text
Journal Article
Lifestyle determinants of behavioural outcomes triggered by direct‐to‐consumer advertising of prescription medicines: a cross‐sectional study
Zadeh, Neda Khalil, Robertson, Kirsten, Green, James A.
Published in Australian and New Zealand journal of public health (01.04.2019)
Published in Australian and New Zealand journal of public health (01.04.2019)
Get full text
Journal Article
Challenges and difficulties of technology commercialization − a mixed-methods study of an industrial development organization
Khalil Zadeh, Neda, Khalilzadeh, Mohammad, Mozafari, Mehrdad, Vasei, Morteza, Amoei Ojaki, Ali
Published in Management research review (01.01.2017)
Published in Management research review (01.01.2017)
Get full text
Journal Article
IL-1 blockade as a novel approach to treatment of hyperzincemia and hypercalprotectinemia, a possible new autoinflammatory syndrome
Lionetti, Geraldina, Bernstein, Jonathan A, Holzinger, Dirk, Jeng, Michael, Roth, Johannes, Zadeh, Neda, Hsu, Joyce
Published in Pediatric rheumatology online journal (13.07.2012)
Published in Pediatric rheumatology online journal (13.07.2012)
Get full text
Journal Article
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
Dimmock, David, Caylor, Sara, Waldman, Bryce, Benson, Wendy, Ashburner, Christina, Carmichael, Jason L., Carroll, Jeanne, Cham, Elaine, Chowdhury, Shimul, Cleary, John, D’Harlingue, Arthur, Doshi, A., Ellsworth, Katarzyna, Galarreta, Carolina I., Hobbs, Charlotte, Houtchens, Kathleen, Hunt, Juliette, Joe, Priscilla, Joseph, Maries, Kaplan, Robert H., Kingsmore, Stephen F., Knight, Jason, Kochhar, Aaina, Kronick, Richard G., Limon, Jolie, Martin, Madelena, Rauen, Katherine A., Schwarz, Adam, Shankar, Suma P., Spicer, Rosanna, Rojas, Mario Augusto, Vargas-Shiraishi, Ofelia, Wigby, Kristen, Zadeh, Neda, Farnaes, Lauge
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
Get full text
Journal Article
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
Krantz, Ian D, Medne, Livija, Weatherly, Jamila M, Wild, K Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P, Abdul-Rahman, Omar, Euteneuer, Joshua C, Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J, Vargas-Shiraishi, Ofelia M, Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A, Baldridge, Dustin, Cole, F Sessions, Wegner, Daniel J, Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J, Pivnick, Eniko K, Ward, Jewell C, Talati, Ajay, Brown, Chester W, Belmont, John W, Ortega, Julia L, Robinson, Keisha D, Brocklehurst, W Tyler, Perry, Denise L, Ajay, Subramanian S, Hagelstrom, R Tanner, Bennett, Maren, Rajan, Vani, Taft, Ryan J
Published in JAMA pediatrics (01.12.2021)
Published in JAMA pediatrics (01.12.2021)
Get more information
Journal Article
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
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 in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
Get full text
Journal Article
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, van der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A
Published in Molecular psychiatry (01.06.2017)
Published in Molecular psychiatry (01.06.2017)
Get full text
Journal Article
Web Resource
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Ebstein, Frédéric, Küry, Sébastien, Most, Victoria, Rosenfelt, Cory, Scott-Boyer, Marie-Pier, van Woerden, Geeske M, Besnard, Thomas, Papendorf, Jonas Johannes, Studencka-Turski, Maja, Wang, Tianyun, Hsieh, Tzung-Chien, Golnik, Richard, Baldridge, Dustin, Forster, Cara, de Konink, Charlotte, Teurlings, Selina M W, Vignard, Virginie, van Jaarsveld, Richard H, Ades, Lesley, Cogné, Benjamin, Mignot, Cyril, Deb, Wallid, Jongmans, Marjolijn C J, Cole, F Sessions, van den Boogaard, Marie-José H, Wambach, Jennifer A, Wegner, Daniel J, Yang, Sandra, Hannig, Vickie, Brault, Jennifer Ann, Zadeh, Neda, Bennetts, Bruce, Keren, Boris, Gélineau, Anne-Claire, Powis, Zöe, Towne, Meghan, Bachman, Kristine, Seeley, Andrea, Beck, Anita E, Morrison, Jennifer, Westman, Rachel, Averill, Kelly, Brunet, Theresa, Haasters, Judith, Carter, Melissa T, Osmond, Matthew, Wheeler, Patricia G, Forzano, Francesca, Mohammed, Shehla, Trakadis, Yannis, Accogli, Andrea, Harrison, Rachel, Guo, Yiran, Hakonarson, Hakon, Rondeau, Sophie, Baujat, Geneviève, Barcia, Giulia, Feichtinger, René Günther, Mayr, Johannes Adalbert, Preisel, Martin, Laumonnier, Frédéric, Kallinich, Tilmann, Knaus, Alexej, Isidor, Bertrand, Krawitz, Peter, Völker, Uwe, Hammer, Elke, Droit, Arnaud, Eichler, Evan E, Elgersma, Ype, Hildebrand, Peter W, Bolduc, François, Krüger, Elke, Bézieau, Stéphane
Published in Science translational medicine (31.05.2023)
Published in Science translational medicine (31.05.2023)
Get more information
Journal Article
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis
Bayram, Yavuz, White, Janson J., Elcioglu, Nursel, Cho, Megan T., Zadeh, Neda, Gedikbasi, Asuman, Palanduz, Sukru, Ozturk, Sukru, Cefle, Kivanc, Kasapcopur, Ozgur, Coban Akdemir, Zeynep, Pehlivan, Davut, Begtrup, Amber, Carvalho, Claudia M.B., Paine, Ingrid Sophie, Mentes, Ali, Bektas-Kayhan, Kivanc, Karaca, Ender, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R.
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
Get full text
Journal Article
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz-Gonzalez, Xilma, Schelhaas, Helenius J, Willemsen, Marjolein H, van der Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez-Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R, Vari, Stella, Roende, Gitte, Bak, Mads, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M, Hammer, Trine Bjørg, Møller, Rikke S, Rabin, Rachel, Pappas, John, Zupanc, Mary L, Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormos, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Battaglia, Domenica Immacolata, Gambardella, Maria Luigia, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Bova, Stefania Maria, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta
Published in Epilepsia (Copenhagen) (02.07.2024)
Published in Epilepsia (Copenhagen) (02.07.2024)
Get full text
Journal Article
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
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, 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, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., 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, Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola
Published in American journal of medical genetics. Part A (01.06.2021)
Published in American journal of medical genetics. Part A (01.06.2021)
Get full text
Journal Article
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
Burns, William, Bird, Lynne M., Heron, Delphine, Keren, Boris, Ramachandra, Divya, Thiffault, Isabelle, Del Viso, Florencia, Amudhavalli, Shivarajan, Engleman, Kendra, Parenti, Ilaria, Kaiser, Frank J., Wierzba, Jolanta, Riedhammer, Korbinian M., Liptay, Susanne, Zadeh, Neda, Porrmann, Joseph, Fischer, Andrea, Gößwein, Sophie, McLaughlin, Heather M., Telegrafi, Aida, Langley, Katherine G., Steet, Richard, Louie, Raymond J., Lyons, Michael J.
Published in American journal of medical genetics. Part A (01.10.2021)
Published in American journal of medical genetics. Part A (01.10.2021)
Get full text
Journal Article
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P., Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K., Wigby, Kristen M., Baralle, Diana, Mehrjardi, Mohammad Y.V., Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M., Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T., Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E., Ercan-Sencicek, A. Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C., Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N., Kraus, Alison, Valenzuela, Irene, McLean, Scott D., Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E., Torti, Erin, Haack, Tobias B., Prada, Carlos E., Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
Get full text
Journal Article