يعرض 1 - 10 نتائج من 1,155 نتيجة بحث عن '"Nussbaum, Robert"', وقت الاستعلام: 1.41s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Using a chat-based informed consent tool in large-scale genomic research.

    المؤلفون: Savage, Sarah, LoTempio, Jonathan, Smith, Erica, Andrew, E, Mas, Gloria, Kahn-Kirby, Amanda, Délot, Emmanuèle, Cohen, Andrea, Pitsava, Georgia, Nussbaum, Robert, Fusaro, Vincent, Berger, Seth, Vilain, Eric

    المصدر: Journal of the American Medical Informatics Association. 31(2)

    مصطلحات موضوعية: chatbot, genetic counseling, genomics, informed consent, large-scale research, Humans, Prospective Studies, Informed Consent, Genomics, Software, Communication

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/2sp275d9

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    المؤلفون: Matuozzo, DanielaAff1, Aff2, Talouarn, EstelleAff1, Aff2, Marchal, AstridAff1, Aff2, Zhang, Peng, Manry, JeremyAff1, Aff2, Seeleuthner, YoannAff1, Aff2, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, AdrianAff1, Aff2, Bastard, PaulAff1, Aff2, Aff3, Asano, Takaki, Bizien, LucyAff1, Aff2, Barzaghi, Federica, Abolhassani, HassanAff7, Aff8, Tayoun, Ahmad AbouAff9, Aff10, Aiuti, AlessandroAff11, Aff12, Darazam, Ilad AlaviAff13, Aff14, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés AugustoAff3, Aff17, Aff18, Aytekin, Gokhan, Bergman, PeterAff20, Aff21, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, GiorgioAff27, Aff28, Chaïbi, KhalilAff29, Aff30, Colobran, RogerAff31, Aff32, Aff33, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., Zein, Loubna El, Flores, CarlosAff36, Aff37, Aff38, Aff39, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, DavoodAff50, Aff51, Aff52, Martinez-Picado, JavierAff53, Aff54, Aff55, Aff56, Aff57, Akcan, Ozge Metin, Migeotte, Isabelle, Morange, Pierre-EmmanuelAff59, Aff60, Morelle, Guillaume, Martin-Nalda, AndreaAff31, Aff61, Aff62, Novelli, GiuseppeAff63, Aff64, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, LauraAff68, Aff69, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, AuroraAff56, Aff68, Aff69, Reyes, Luis Felipe, Rivière, Jacques G.Aff31, Aff61, Aff62, Rodriguez-Gallego, CarlosAff72, Aff73, Rojas, Julian, Rovere-Querini, PatriziaAff12, Aff74, Schlüter, AgathaAff68, Aff69, Shahrooei, MohammadAff75, Aff76, Sobh, Ali, Soler-Palacin, PereAff31, Aff61, Aff62, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, PawelAff84, Aff85, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, HagitAff87, Aff88, Butte, Manish J., Constantinescu, Stefan N.Aff90, Aff91, Aff92, Aff93, Cooper, Megan A., Dalgard, Clifton L.Aff95, Aff96, Fellay, JacquesAff97, Aff98, Aff99, Heath, James R., Lau, Yu-Lung, Lifton, Richard P.Aff102, Aff103, Aff104, Maniatis, TomAff105, Aff106, Mogensen, Trine H.Aff107, Aff108, von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, PierreAff117, Aff118, Meyts, Isabelle, Zhang, Shen-YingAff1, Aff2, Aff3, Puel, AnneAff1, Aff2, Aff3, Notarangelo, Luigi D., Boisson-Dupuis, StephanieAff1, Aff2, Aff3, Su, Helen C., Boisson, BertrandAff1, Aff2, Aff3, Jouanguy, EmmanuelleAff1, Aff2, Aff3, Casanova, Jean-LaurentAff1, Aff2, Aff3, Aff121, IDs13073023012780_cor126, Zhang, QianAff1, Aff2, Aff3, Abel, LaurentAff1, Aff2, Aff3, Cobat, AurélieAff1, Aff2, Aff3, IDs13073023012780_cor129

    المصدر: Genome Medicine. 16(1)

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

    المؤلفون: Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Carter, Jennefer, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Delot, Emmanuele, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garcia, Brandon, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Page, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Sousa, Rodrigo Guarischi, Gudmundsson, Sanna, Gulati, Ashima, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lee, Arthur, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James (Jim), Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Mastrorosa, Francesco Kumara, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Mendez, Hector Rodrigo, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Nguyen, Thuy-mi P., Nguyen, Jonathan, Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria`Sara, Ponce, Sarah, Porter, Elizabeth, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Evette, Scott, Stuart, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Kevin, Smith, Josh, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael (Mike), Tise, Christina, Tong, Catherine (Cat), Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Wei, Chia-Lin, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Chong, Jessica X., Berger, Seth I., Smith, Erica, Calame, Daniel G., Hawley, Megan H., Rivera-Munoz, E. Andres, Bamshad, Michael J., Rehm, Heidi L.

    المصدر: In Genetics in Medicine October 2024 26(10)

    View record in Lippincott, Williams & Wilkins
    أضف إلى المفضلة
  4. 4
    دورية أكاديمية
    Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    المؤلفون: Matuozzo, DanielaAff1, Aff2, Talouarn, EstelleAff1, Aff2, Marchal, AstridAff1, Aff2, Zhang, Peng, Manry, JeremyAff1, Aff2, Seeleuthner, YoannAff1, Aff2, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, AdrianAff1, Aff2, Bastard, PaulAff1, Aff2, Aff3, Aff6, Asano, Takaki, Bizien, LucyAff1, Aff2, Barzaghi, Federica, Abolhassani, HassanAff8, Aff9, Abou Tayoun, AhmadAff10, Aff11, Aiuti, AlessandroAff12, Aff13, Alavi Darazam, IladAff14, Aff15, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés AugustoAff3, Aff18, Aff19, Aytekin, Gokhan, Bergman, PeterAff21, Aff22, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, GiorgioAff28, Aff29, Chaïbi, KhalilAff30, Aff31, Colobran, RogerAff32, Aff33, Aff34, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., El Zein, Loubna, Flores, CarlosAff37, Aff38, Aff39, Aff40, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, DavoodAff51, Aff52, Aff53, Martinez-Picado, JavierAff54, Aff55, Aff56, Aff57, Aff58, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-EmmanuelAff60, Aff61, Morelle, Guillaume, Martin-Nalda, AndreaAff32, Aff62, Aff63, Novelli, GiuseppeAff64, Aff65, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, LauraAff69, Aff70, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, AuroraAff57, Aff69, Aff70, Reyes, Luis Felipe, Rivière, Jacques G.Aff32, Aff62, Aff63, Rodriguez-Gallego, CarlosAff73, Aff74, Rojas, Julian, Rovere-Querini, PatriziaAff13, Aff75, Schlüter, AgathaAff69, Aff70, Shahrooei, MohammadAff76, Aff77, Sobh, Ali, Soler-Palacin, PereAff32, Aff62, Aff63, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, PawelAff85, Aff86, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, HagitAff88, Aff89, Butte, Manish J., Constantinescu, Stefan N.Aff91, Aff92, Aff93, Aff94, Cooper, Megan A., Dalgard, Clifton L.Aff96, Aff97, Fellay, JacquesAff98, Aff99, Aff100, Heath, James R., Lau, Yu-Lung, Lifton, Richard P.Aff103, Aff104, Aff105, Maniatis, TomAff106, Aff107, Mogensen, Trine H.Aff108, Aff109, von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, PierreAff118, Aff119, Meyts, Isabelle, Zhang, Shen-YingAff1, Aff2, Aff3, Puel, AnneAff1, Aff2, Aff3, Notarangelo, Luigi D., Boisson-Dupuis, StephanieAff1, Aff2, Aff3, Su, Helen C., Boisson, BertrandAff1, Aff2, Aff3, Jouanguy, EmmanuelleAff1, Aff2, Aff3, Casanova, Jean-LaurentAff1, Aff2, Aff3, Aff122, IDs13073023011738_cor127, Zhang, QianAff1, Aff2, Aff3, Abel, LaurentAff1, Aff2, Aff3, Cobat, AurélieAff1, Aff2, Aff3, IDs13073023011738_cor130

    المصدر: Genome Medicine. 15(1)

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

    المؤلفون: Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Manry, Jérémy, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Eto, Shohei, Garcia-Prat, Marina, Bizien, Lucy, Parra-Martínez, Alba, Yang, Rui, Haljasmägi, Liis, Migaud, Mélanie, Särekannu, Karita, Maslovskaja, Julia, de Prost, Nicolas, Tandjaoui-Lambiotte, Yacine, Luyt, Charles-Edouard, Amador-Borrero, Blanca, Gaudet, Alexandre, Poissy, Julien, Morel, Pascal, Richard, Pascale, Cognasse, Fabrice, Troya, Jesus, Trouillet-Assant, Sophie, Belot, Alexandre, Saker, Kahina, Garçon, Pierre, Rivière, Jacques G, Lagier, Jean-Christophe, Gentile, Stéphanie, Rosen, Lindsey B, Shaw, Elana, Morio, Tomohiro, Tanaka, Junko, Dalmau, David, Tharaux, Pierre-Louis, Sene, Damien, Stepanian, Alain, Megarbane, Bruno, Triantafyllia, Vasiliki, Fekkar, Arnaud, Heath, James R, Franco, José Luis, Anaya, Juan-Manuel, Solé-Violán, Jordi, Imberti, Luisa, Biondi, Andrea, Bonfanti, Paolo, Castagnoli, Riccardo, Delmonte, Ottavia M, Zhang, Yu, Snow, Andrew L, Holland, Steven M, Biggs, Catherine, Moncada-Vélez, Marcela, Arias, Andrés Augusto, Lorenzo, Lazaro, Boucherit, Soraya, Coulibaly, Boubacar, Anglicheau, Dany, Planas, Anna M, Haerynck, Filomeen, Duvlis, Sotirija, Nussbaum, Robert L, Ozcelik, Tayfun, Keles, Sevgi, Bousfiha, Ahmed A, Bakkouri, Jalila El, Ramirez-Santana, Carolina, Paul, Stéphane, Pan-Hammarström, Qiang, Hammarström, Lennart, Dupont, Annabelle, Kurolap, Alina, Metz, Christine N, Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Ciceri, Fabio, Barreiros, Lucila A, Dominguez-Garrido, Elena, Vidigal, Mateus, Zatz, Mayana, van de Beek, Diederik, Sahanic, Sabina, Tancevski, Ivan, Stepanovskyy, Yurii, Boyarchuk, Oksana, Nukui, Yoko, Tsumura, Miyuki, Vidaur, Loreto, Tangye, Stuart G, Burrel, Sonia, Duffy, Darragh, Quintana-Murci, Lluis, Klocperk, Adam

    المصدر: Science Immunology. 6(62)

    مصطلحات موضوعية: Pneumonia, Lung, Infectious Diseases, Emerging Infectious Diseases, Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Infection, Good Health and Well Being, Adolescent, Adult, Aged, Aged, 80 and over, Antibodies, Neutralizing, Autoantibodies, COVID-19, Case-Control Studies, Child, Child, Preschool, Critical Illness, Humans, Immunoglobulin G, Infant, Infant, Newborn, Interferon Type I, Interferon-alpha, Middle Aged, Young Adult, HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response to COVID Group, NH-COVAIR Study Group, Danish CHGE, Danish Blood Donor Study, St. James's Hospital, SARS CoV2 Interest group, French COVID Cohort Study Group, Imagine COVID-Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19, Biobank Investigators, COVID Human Genetic Effort, CONSTANCES cohort, 3C-Dijon Study, Cerba Health-Care, Etablissement du Sang study group

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/1sp3z9cj

    أضف إلى المفضلة
  6. 6
    دورية أكاديمية
    Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

    المؤلفون: van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.

    المصدر: In The American Journal of Human Genetics 5 October 2023 110(10):1769-1786

    أضف إلى المفضلة
  7. 7
    دورية أكاديمية
    Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial

    المؤلفون: Shore, Neal, Gazi, Mukaram, Pieczonka, Christopher, Heron, Sean, Modh, Rishi, Cahn, David, Belkoff, Laurence H., Berger, Aaron, Mazzarella, Brian, Veys, Joseph, Idom, Charles, Morris, David, Jayram, Gautam, Engelman, Alexander, Bukkapatnam, Raviender, Dato, Paul, Bevan-Thomas, Richard, Cornell, Robert, Wise, David R., Hardwick, Mary Kay, Hernandez, Ryan D., Rojahn, Susan, Layman, Paige, Hatchell, Kathryn E., Heald, Brandie, Nussbaum, Robert L., Nielsen, Sarah M., Esplin, Edward D.

    المصدر: In European Urology Oncology October 2023 6(5):477-483

    View record from ScienceDirect Full Text via ClinicalKey Full Text Finder
    أضف إلى المفضلة
  8. 8
    دورية أكاديمية
    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

    المؤلفون: Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Bozkurt-Yozgatli, Tugce, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Délot, Emmanuèle, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fatih, Jawid, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Pagé, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Guarischi Sousa, Rodrigo, Gudmundsson, Sanna, Gulati, Ashima, Guo, Daniel, Hale, Walker, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Herman, Isabella, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kohler, Jennefer, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James, Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Kumara Mastrorosa, Francesco, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Rodrigo Mendez, Hector, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moussa, Hala Mohamed, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Neu, Matthew B., Nguyen, Jonathan, Nguyen, Thuy-mi P., Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria, Ponce, Sarah, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Stuart, Scott, Evette, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Josh, Smith, Kevin, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sundaram, Laksshman, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael, Tise, Christina, Tong, Catherine, Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Wong, Issac, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Wojcik, Monica H., Reuter, Chloe M., Duyzend, Michael H., Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Starita, Lea M., Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., Sedlazeck, Fritz J.

    المصدر: In The American Journal of Human Genetics 3 August 2023 110(8):1229-1248

    أضف إلى المفضلة
  9. 9
    دورية أكاديمية
    The role of exome sequencing in newborn screening for inborn errors of metabolism

    المؤلفون: Adhikari, Aashish N, Gallagher, Renata C, Wang, Yaqiong, Currier, Robert J, Amatuni, George, Bassaganyas, Laia, Chen, Flavia, Kundu, Kunal, Kvale, Mark, Mooney, Sean D, Nussbaum, Robert L, Randi, Savanna S, Sanford, Jeremy, Shieh, Joseph T, Srinivasan, Rajgopal, Sunderam, Uma, Tang, Hao, Vaka, Dedeepya, Zou, Yangyun, Koenig, Barbara A, Kwok, Pui-Yan, Risch, Neil, Puck, Jennifer M, Brenner, Steven E

    المصدر: Nature Medicine. 26(9)

    مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Clinical Research, Genetics, Prevention, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, 4.2 Evaluation of markers and technologies, 4.4 Population screening, Detection, screening and diagnosis, Exome, Genetic Testing, Humans, Infant, Newborn, Metabolism, Inborn Errors, Neonatal Screening, Tandem Mass Spectrometry, Exome Sequencing, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/9vf568hp

    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

    المؤلفون: Adhikari, Aashish N, Currier, Robert J, Tang, Hao, Turgeon, Coleman T, Nussbaum, Robert L, Srinivasan, Rajgopal, Sunderam, Uma, Kwok, Pui-Yan, Brenner, Steven E, Gavrilov, Dimitar, Puck, Jennifer M, Gallagher, Renata

    المصدر: International Journal of Neonatal Screening. 6(2)

    مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Genetic Testing, Neurodegenerative, Pediatric, Clinical Research, Prevention, Human Genome, Perinatal Period - Conditions Originating in Perinatal Period, Biotechnology, Brain Disorders, 4.2 Evaluation of markers and technologies, Aetiology, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, newborn screening, short-chain acyl-CoA dehydrogenase deficiency, SCADD, ACADS, second-tier testing, ethylmalonic acid, exome sequence, butyrylcarnitine

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/3h2485wf

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS – أرسل هذا البحث بالبريد الإلكتروني – حفظ البحث – جدول التنبيهات: لا شيء