المؤلفون: Chen, Yuyang^{Aff1, Aff2}, Dawes, Ruebena^{Aff1, Aff2}, Kim, Hyung Chul^{Aff1, Aff2}, Ljungdahl, Alicia^{Aff3, Aff4}, Stenton, Sarah L.^{Aff5, Aff6}, Walker, Susan, Lord, Jenny, Lemire, Gabrielle^{Aff5, Aff6}, Martin-Geary, Alexandra C.^{Aff1, Aff2}, Ganesh, Vijay S.^{Aff5, Aff6, Aff9}, Ma, Jialan, Ellingford, Jamie M.^{Aff7, Aff10, Aff11}, Delage, Erwan, D’Souza, Elston N.^{Aff1, Aff2}, Dong, Shan^{Aff3, Aff4}, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I.^{Aff17, Aff18}, Bernstein, Jonathan A.^{Aff19, Aff20, Aff21}, Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J.^{Aff14, Aff23}, Burrage, Lindsay C., Chapman, Kimberly, Coman, David J.^{Aff25, Aff26, Aff27}, Compton, Alison G.^{Aff14, Aff23, Aff28}, Cunningham, Chloe A.^{Aff14, Aff23}, D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae^{Aff29, Aff30}, Elias, Ellen R.^{Aff31, Aff32}, Elmslie, Frances, Evans, Care-Anne^{Aff29, Aff34}, Ewans, Lisa^{Aff35, Aff36, Aff37}, Ezell, Kimberly, Fraser, Jamie L.^{Aff17, Aff18}, Gallacher, Lyndon^{Aff14, Aff23}, Genetti, Casie A.^{Aff6, Aff39}, Goriely, Anne^{Aff40, Aff41}, Grant, Christina L., Haack, Tobias^{Aff42, Aff43}, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lachlan, Katherine L.^{Aff46, Aff47}, Lalani, Seema R., Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J.^{Aff23, Aff28, Aff49}, Liebelt, Jan E.^{Aff50, Aff51}, Lindsay, Sarah, Lockhart, Paul J.^{Aff23, Aff52}, Ma, Alan S.^{Aff53, Aff54}, Macnamara, Ellen F., Mansour, Sahar, Maurer, Taylor M.^{Aff20, Aff21, Aff55}, Mendez, Hector R.^{Aff20, Aff21, Aff56}, Metcalfe, Kay, Montgomery, Stephen B.^{Aff20, Aff21, Aff58}, Moosajee, Mariya^{Aff59, Aff60, Aff61}, Nassogne, Marie-Cécile^{Aff62, Aff63}, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E.^{Aff35, Aff36}, Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan^{Aff35, Aff36, Aff66}, Rehm, Heidi L.^{Aff5, Aff67}, Reuter, Chloe M.^{Aff20, Aff21, Aff56}, Revencu, Nicole, Riess, Angelika, Rius, Rocio^{Aff23, Aff69, Aff70}, Rodan, Lance, Roscioli, Tony^{Aff29, Aff30, Aff34}, Rosenfeld, Jill A., Sachdev, Rani^{Aff35, Aff36}, Shaw-Smith, Charles J., Simons, Cas^{Aff69, Aff70}, Sisodiya, Sanjay M.^{Aff72, Aff73}, Snell, Penny, St Clair, Laura, Stark, Zornitza^{Aff14, Aff23}, Stewart, Helen S., Tan, Tiong Yang^{Aff14, Aff23}, Tan, Natalie B., Temple, Suzanna E. L.^{Aff15, Aff74}, Thorburn, David R.^{Aff14, Aff23, Aff28}, Tifft, Cynthia J., Uebergang, Eloise, VanNoy, Grace E., Vasudevan, Pradeep, Vilain, Eric, Viskochil, David H., Wedd, Laura^{Aff69, Aff70}, Wheeler, Matthew T.^{Aff20, Aff21, Aff56}, White, Susan M.^{Aff14, Aff23}, Wojcik, Monica^{Aff6, Aff39, Aff77}, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana^{Aff83, Aff84}, Depienne, Christel, MacArthur, Daniel G.^{Aff69, Aff70}, Howson, Joanna M. M., Sanders, Stephan J.^{Aff3, Aff4}, O’Donnell-Luria, Anne^{Aff5, Aff6, Aff67}, Whiffin, Nicola^{Aff1, Aff2, Aff5, IDs41586024077737_cor119}

المصدر: Nature: International weekly journal of science. 632(8026):832-840

المؤلفون: Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.

مصطلحات موضوعية: Quantitative Biology - Genomics

URL الوصول: http://arxiv.org/abs/2301.07363

المؤلفون: Kocher, Kristen^{Aff1, Aff2}, Bhattacharya, Surajit, Niforatos-Andescavage, Nickie, Almalvez, Miguel, Henderson, Diedtra, Vilain, Eric^{Aff4, IDs12920023017074_cor6}, Limperopoulos, Catherine, Délot, Emmanuèle C.^{Aff1, Aff2, IDs12920023017074_cor8}

المصدر: BMC Medical Genomics. 16(1)

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

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المؤلفون: Barseghyan, Hayk, Symon, Aleisha, Zadikyan, Mariam, Almalvez, Miguel, Segura, Eva E, Eskin, Ascia, Bramble, Matthew S, Arboleda, Valerie A, Baxter, Ruth, Nelson, Stanley F, Délot, Emmanuèle C, Harley, Vincent, Vilain, Eric

المصدر: Biology of sex differences. 9(1)

مصطلحات موضوعية: Animals, Mice, Inbred C57BL, Models, Animal, Female, Male, SOX9 Transcription Factor, Disorder of Sex Development, 46, XY, 46, XY DSD, C57BL/6J mouse, Disorders of sex development, Exome, Gonadal dysgenesis, RNA-Seq, Undervirilization, Pediatric, Genetics, Human Genome, Contraception/Reproduction, Aetiology, 2.1 Biological and endogenous factors, 46, XY DSD

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7hm5m47v

المؤلفون: Barseghyan, Hayk, Tang, Wilson, Wang, Richard T, Almalvez, Miguel, Segura, Eva, Bramble, Matthew S, Lipson, Allen, Douine, Emilie D, Lee, Hane, Délot, Emmanuèle C, Nelson, Stanley F, Vilain, Eric

المصدر: Genome Medicine. 9(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Duchenne/ Becker Muscular Dystrophy, Biotechnology, Muscular Dystrophy, Pediatric, Human Genome, Brain Disorders, Genetic Testing, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Chromosome Mapping, Cohort Studies, DNA Mutational Analysis, Dystrophin, Female, Gene Deletion, Genetic Carrier Screening, Genome, Human, Genomic Structural Variation, Humans, Male, Mothers, Muscular Dystrophy, Duchenne, Mutagenesis, Insertional, Sequence Inversion, Next-generation mapping, Duchenne muscular dystrophy, Bionano, Structural variants, DMD, Optical mapping, Nanochannel, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2m24k017

المؤلفون: Délot, Emmanuèle C.^{Aff1, Aff2}, Vilain, Eric^{Aff1, Aff2, IDs41576021003655_cor2}

المصدر: Nature Reviews Genetics. 22(9):588-602

المؤلفون: Kocher, Kristen^{Aff1, Aff2}, Delot-Vilain, Arthur, Spencer, D’Andre, LoTempio, Jonathan^{Aff1, Aff2}, Délot, Emmanuèle C.^{Aff1, Aff2, Aff4}

المصدر: Archives of Sexual Behavior: The Official Publication of the International Academy of Sex Research. 50(2):407-426

المؤلفون: Bhattacharya, Surajit, Barseghyan, Hayk^{Aff1, Aff2, Aff3}, Délot, Emmanuèle C.^{Aff1, Aff2}, Vilain, Eric^{Aff1, Aff2}

المصدر: BMC Genomics. 22(1)