학술논문
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'학술논문'
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1~20
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Academic Journal
Negi, Shloka ; Stenton, Sarah L. ; Berger, Seth I. ; Canigiula, Paolo ; McNulty, Brandy ; Violich, Ivo ; Gardner, Joshua ; Hillaker, Todd ; O’Rourke, Sara M. ; O’Leary, Melanie C. ; Carbonell, Elizabeth ; Austin-Tse, Christina ; Lemire, Gabrielle ; Serrano, Jillian ; Mangilog, Brian ; VanNoy, Grace ; Kolmogorov, Mikhail ; Vilain, Eric ; O’Donnell-Luria, Anne ; Délot, Emmanuèle ; Miga, Karen H. ; Monlong, Jean ; Paten, Benedict
In The American Journal of Human Genetics 6 February 2025 112(2):428-449
Academic Journal
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.
In Genetics in Medicine October 2024 26(10)
Academic Journal
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.
In The American Journal of Human Genetics 3 August 2023 110(8):1229-1248
Academic Journal
Barrick, Rebekah ; Shah, Eshita ; LoTempio, Jonathan ; Andrew, Hallie ; Délot, Emmanuèle ; Fusaro, Vincent ; Berger, Seth ; Vilain, Eric ; Xiao, Changrui
In Genetics in Medicine Open 2025 3 Supplement 2
Academic Journal
Dawood, Moez ; Heavner, Ben ; Wheeler, Marsha ; Ungar, Rachel ; LoTempio, Jonathan ; Wiel, Laurens ; Berger, Seth ; Bernstein, Jonathan ; Chong, Jessica ; Délot, Emmanuèle ; Eichler, Evan ; Gibbs, Richard ; Lupski, James ; Shojaie, Ali ; Talkowski, Michael ; Wei, Chia-Lin ; Wheeler, Matthew ; Vilain, Eric ; Sedlazeck, Fritz ; Miller, Danny ; Gifford, Casey ; May, Susanne ; Rehm, Heidi ; O'Donnell-Luria, Anne ; Posey, Jennifer ; Chadwick, Lisa ; Bamshad, Michael ; Montgomery, Stephen
In Genetics in Medicine Open 2025 3 Supplement 2
Academic Journal
Parivesh, Abhinav; Délot, Emmanuèle; Reyes, Alejandra; Ryan, Janelle; Bhattacharya, Surajit; Harley, Vincent; Vilain, Eric
Academic Journal
Délot, Emmanuèle ; Monlong, Jean ; Chen, Xiao ; Barseghyan, Hayk ; Bhattacharya, Surajit ; LoTempio, Jonathan ; McNulty, Brandy ; Negi, Shloka ; O'Rourke, Sara ; Robertson, Alexander ; Rowell, William ; Berger, Seth ; Miga, Karen ; Paten, Benedict ; Cool, Jonah ; Vilain, Eric
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Chen, Xiao; Baker, Daniel; Dolzhenko, Egor; Devaney, Joseph M.; Noya, Jessica; Berlyoung, April S.; Brandon, Rhonda; Hruska, Kathleen S.; Lochovsky, Lucas; Kruszka, Paul; Newman, Scott; Farrow, Emily; Thiffault, Isabelle; Pastinen, Tomi; Kasperaviciute, Dalia; Gilissen, Christian; Vissers, Lisenka; Hoischen, Alexander; Berger, Seth; Vilain, Eric; Délot, Emmanuèle; Eberle, Michael A.
Nature Communications. 16(1)
Academic Journal
Leon, Eyby ; Gomez-Lobo, Veronica ; Shimy, Kim ; Monaghan, Maureen ; Vilain, Eric ; Casella, Daniel ; Delot, Emmanuele
In Genetics in Medicine Open 2023 1(1) Supplement
P148: Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing*
Academic Journal
Cohen, Andrea ; Hughes, Joel ; Dalgard, Clifton ; Kruszka, Paul ; Delot, Emmanuele ; Fusaro, Vincent ; Vilain, Eric ; Muenke, Maximilian ; Berger, Seth
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Kocher, Kristen M.; Ngwa, Julius; Kapse, Kushal J.; Bhattacharya, Surajit; Rossi, Christopher; Delot, Emmanuele; duPlessis, Adre; Limperopoulos, Catherine; Andescavage, Nickie
Academic Journal
Hughes, Joel J. ; Alkhunaizi, Ebba ; Kruszka, Paul ; Pyle, Louise C. ; Grange, Dorothy K. ; Berger, Seth I. ; Payne, Katelyn K. ; Masser-Frye, Diane ; Hu, Tommy ; Christie, Michelle R. ; Clegg, Nancy J. ; Everson, Joshua L. ; Martinez, Ariel F. ; Walsh, Laurence E. ; Bedoukian, Emma ; Jones, Marilyn C. ; Harris, Catharine Jean ; Riedhammer, Korbinian M. ; Choukair, Daniela ; Fechner, Patricia Y. ; Rutter, Meilan M. ; Hufnagel, Sophia B. ; Roifman, Maian ; Kletter, Gad B. ; Delot, Emmanuele ; Vilain, Eric ; Lipinski, Robert J. ; Vezina, Chad M. ; Muenke, Maximilian ; Chitayat, David
In The American Journal of Human Genetics 2 January 2020 106(1):121-128
Book
In Current Topics in Developmental Biology 2019 134:317-375
Academic Journal
Savage, Sarah K; LoTempio, Jonathan; Smith, Erica D; Andrew, E Hallie; Mas, Gloria; Kahn-Kirby, Amanda H; Délot, Emmanuèle; Cohen, Andrea J; Pitsava, Georgia; Nussbaum, Robert; Fusaro, Vincent A; Berger, Seth; Vilain, Eric
Academic Journal
King CH; University of California, Irvine, Institute for Clinical and Translational Science.; Barrick R; University of California, Irvine, Institute for Clinical and Translational Science.; Almalvez M; University of California, Irvine, Institute for Clinical and Translational Science.; Blanco K; University of California, Irvine, Institute for Clinical and Translational Science.; De Dios I; University of California, Irvine, Institute for Clinical and Translational Science.; Fusaro VA; University of California, Irvine, Institute for Clinical and Translational Science.; Délot E; University of California, Irvine, Institute for Clinical and Translational Science.; Donohue C; University of California, Irvine, Institute for Clinical and Translational Science.; Berger S; Ambry Genetics Inc.; Xiao C; University of California, Irvine, Institute for Clinical and Translational Science.; Vilain E; University of California, Irvine, Institute for Clinical and Translational Science.; University of California Irvine, School of Medicine, Department of Pediatrics.; LoTempio J; University of California, Irvine, Institute for Clinical and Translational Science.; University of California Irvine, School of Medicine, Department of Pediatrics.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Patel, Nishita ; Naroji, Swetha ; Kyrillos, Alexandra ; Vilian, Eric ; Délot, Emmanuèle ; Gomez-Lobo, Veronica
In Journal of Pediatric and Adolescent Gynecology April 2022 35(2):213-214
Academic Journal
Mosema, Kizito ; Spencer, D'Andre ; Bramble, Matthew ; Balali, Esther Likuba ; Matondo, Alex Ibanda ; Kamate, Kirauli ; Katumbay, Désiré Tshala ; Ngoyi, Dieudonné Mumba ; Délot, Emmanuèle ; Vilain, Eric
In Genetics in Medicine March 2022 24(3) Supplement:S118-S119
Academic Journal
Jordan, Brian K. ; Mohammed, Mansoor ; Ching, Saunders T. ; Délot, Emmanuèle ; Chen, Xiao-Ning ; Dewing, Phoebe ; Swain, Amanda ; Rao, P. Nagesh ; Elejalde, B. Rafael ; Vilain, Eric
In The American Journal of Human Genetics 2001 68(5):1102-1109
Academic Journal
In Journal of Pediatric and Adolescent Gynecology April 2021 34(2):262-262
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[AR] Delot, Emmanuele
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