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Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
2017
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Nature genetics, 2016-12, Vol.48 (12), p.1581-1586
2016
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Nature genetics, 2022-04, Vol.54 (4), p.374-381
- Roberts, Genevieve H. L.
- Partha, Raghavendran
- Rhead, Brooke
- Knight, Spencer C.
- Park, Danny S.
- Coignet, Marie V.
- Zhang, Miao
- Berkowitz, Nathan
- Turrisini, David A.
- Gaddis, Michael
- McCurdy, Shannon R.
- Pavlovic, Milos
- Ruiz, Luong
- Sass, Chodon
- Haug Baltzell, Asher K.
- Guturu, Harendra
- Girshick, Ahna R.
- Ball, Catherine A.
- Hong, Eurie L.
- Rand, Kristin A.
2022
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Science translational medicine, 2020-05, Vol.12 (544)
2020
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Nature communications, 2024-02, Vol.15 (1), p.989-989, Article 989
2024
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Genome research, 2014-09, Vol.24 (9), p.1504-1516
2014
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Nature communications, 2017-02, Vol.8 (1), p.14238-14238, Article 14238
2017
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International journal of molecular sciences, 2024-07, Vol.25 (15), p.8010
- Chang, Matthew E. K.
- Lange, Jane
- Cartier, Jessie May
- Moore, Travis W.
- Soriano, Sophia M.
- Albracht, Brenna
- Krawitzky, Michael
- Guturu, Harendra
- Alavi, Amir
- Stukalov, Alexey
- Zhou, Xiaoyuan
- Elgierari, Eltaher M.
- Chu, Jessica
- Benz, Ryan
- Cuevas, Juan C.
- Ferdosi, Shadi
- Hornburg, Daniel
- Farokhzad, Omid
- Siddiqui, Asim
- Batzoglou, Serafim
- Leach, Robin J.
- Liss, Michael A.
- Kopp, Ryan P.
- Flory, Mark R.
2024
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PLoS computational biology, 2016-02, Vol.12 (2), p.e1004711-e1004711
2016
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BMJ open, 2022-10, Vol.12 (10), p.e049657-e049657
- Knight, Spencer C
- McCurdy, Shannon R
- Rhead, Brooke
- Coignet, Marie V
- Park, Danny S
- Roberts, Genevieve H L
- Berkowitz, Nathan D
- Zhang, Miao
- Turissini, David
- Delgado, Karen
- Pavlovic, Milos
- Haug Baltzell, Asher K
- Guturu, Harendra
- Rand, Kristin A
- Girshick, Ahna R
- Hong, Eurie L
- Ball, Catherine A
- Banda, Yambazi
- Bi, Ke
- Burton, Robert
- Champine, Marjan
- Curtis, Ross
- Drokhlyansky, Abby
- Elrick, Ashley
- Foo, Cat
- Gaddis, Michael
- Gu, Jialiang
- Hateley, Shannon
- Harris, Heather
- King, Shea
- Maldonado, Christine
- McCartney-Melstad, Evan
- McFarland, Alexandra
- Miller, Patty
- Nguyen, Luong
- Noto, Keith
- Pei, Jingwen
- Petersen, Jenna
- Pew, Scott
- Sass, Chodon
- Schraiber, Josh
- Sedghifar, Alisa
- Smelter, Andrey
- South, Sarah
- Starr, Barry
- Vaughn, Cecily
- Wang, Yong
2022
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PLoS genetics, 2013-08, Vol.9 (8), p.e1003728-e1003728
2013
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Bioinformatics, 2007-08, Vol.23 (16), p.2196-2197
2007
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Nature genetics, 2022-04, Vol.54 (4), p.382-392
- Horowitz, Julie E
- Kosmicki, Jack A
- Damask, Amy
- Sharma, Deepika
- Roberts, Genevieve H L
- Justice, Anne E
- Banerjee, Nilanjana
- Coignet, Marie V
- Yadav, Ashish
- Leader, Joseph B
- Marcketta, Anthony
- Park, Danny S
- Lanche, Rouel
- Maxwell, Evan
- Knight, Spencer C
- Bai, Xiaodong
- Guturu, Harendra
- Sun, Dylan
- Baltzell, Asher
- Kury, Fabricio S P
- Backman, Joshua D
- Girshick, Ahna R
- O'Dushlaine, Colm
- McCurdy, Shannon R
- Partha, Raghavendran
- Mansfield, Adam J
- Turissini, David A
- Li, Alexander H
- Zhang, Miao
- Mbatchou, Joelle
- Watanabe, Kyoko
- Gurski, Lauren
- McCarthy, Shane E
- Kang, Hyun M
- Dobbyn, Lee
- Stahl, Eli
- Verma, Anurag
- Sirugo, Giorgio
- Ritchie, Marylyn D
- Jones, Marcus
- Balasubramanian, Suganthi
- Siminovitch, Katherine
- Salerno, William J
- Shuldiner, Alan R
- Rader, Daniel J
- Mirshahi, Tooraj
- Locke, Adam E
- Marchini, Jonathan
- Overton, John D
- Carey, David J
- Habegger, Lukas
- Cantor, Michael N
- Rand, Kristin A
- Hong, Eurie L
- Reid, Jeffrey G
- Ball, Catherine A
- Baras, Aris
- Abecasis, Gonçalo R
- Ferreira, Manuel A R
2022
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Nucleic acids research, 2018-10, Vol.46 (18), p.9299-9308
2018
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Nature genetics, 2022-04, Vol.54 (4), p.374
- Roberts, Genevieve H L
- Partha, Raghavendran
- Rhead, Brooke
- Knight, Spencer C
- Park, Danny S
- Coignet, Marie V
- Zhang, Miao
- Berkowitz, Nathan
- Turrisini, David A
- Gaddis, Michael
- McCurdy, Shannon R
- Pavlovic, Milos
- Ruiz, Luong
- Sass, Chodon
- Haug Baltzell, Asher K
- Guturu, Harendra
- Girshick, Ahna R
- Ball, Catherine A
- Hong, Eurie L
- Rand, Kristin A
2022
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Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622
- Alcantara, Diana
- Timms, Andrew E
- Gripp, Karen
- Baker, Laura
- Park, Kaylee
- Collins, Sarah
- Cheng, Chi
- Stewart, Fiona
- Mehta, Sarju G
- Saggar, Anand
- Sztriha, László
- Zombor, Melinda
- Caluseriu, Oana
- Mesterman, Ronit
- Van Allen, Margot I
- Jacquinet, Adeline
- Ygberg, Sofia
- Bernstein, Jonathan A
- Wenger, Aaron M
- Guturu, Harendra
- Bejerano, Gill
- Gomez-Ospina, Natalia
- Lehman, Anna
- Alfei, Enrico
- Pantaleoni, Chiara
- Conti, Valerio
- Guerrini, Renzo
- Moog, Ute
- Graham, Jr, John M
- Hevner, Robert
- Dobyns, William B
- O'Driscoll, Mark
- Mirzaa, Ghayda M
2017
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Development (Cambridge), 2020-12, Vol.147 (24)
2020
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Nucleic acids research, 2013-08, Vol.41 (15), p.e151-e151
2013
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Genetics in medicine, 2019-02, Vol.21 (2), p.464-470
2019
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Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2013-12, Vol.368 (1632), p.20130029
2013
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PLoS computational biology, 2016-02, Vol.12 (2)
2016
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European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1810-1818
2018
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International journal of molecular sciences, 2024-08, Vol.25 (15)
- Chang, Matthew E. K
- Lange, Jane
- Ca
- Moore, Travis W
- Soriano, Sophia M
- Albracht, Brenna
- Krawitzky, Michael
- Guturu, Harendra
- Alavi, Amir
- Stukalov, Alexey
- Zhou, Xiaoyuan
- Elgierari, Eltaher M
- Chu, Jessica
- Benz, Ryan
- Cuevas, Juan C
- Ferdosi, Shadi
- Hornburg, Daniel
- Farokhzad, Omid
- Siddiqui, Asim
- Batzoglou, Serafim
- Leach, Robin J
- Liss, Michael A
- Kopp, Ryan P
- Flory, Mark R
2024
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Nature genetics, 2024-08, Vol.56 (8), p.1592-1596
- Kosmicki, Jack A.
- Marcketta, Anthony
- Sharma, Deepika
- Di Gioia, Silvio Alessandro
- Batista, Samantha
- Yang, Xiao-Man
- Tzoneva, Gannie
- Martinez, Hector
- Sidore, Carlo
- Kessler, Michael D.
- Horowitz, Julie E.
- Roberts, Genevieve H. L.
- Justice, Anne E.
- Banerjee, Nilanjana
- Coignet, Marie V.
- Leader, Joseph B.
- Park, Danny S.
- Lanche, Rouel
- Maxwell, Evan
- Knight, Spencer C.
- Bai, Xiaodong
- Guturu, Harendra
- Baltzell, Asher
- Girshick, Ahna R.
- McCurdy, Shannon R.
- Partha, Raghavendran
- Mansfield, Adam J.
- Turissini, David A.
- Zhang, Miao
- Mbatchou, Joelle
- Watanabe, Kyoko
- Verma, Anurag
- Sirugo, Giorgio
- Crooks, Kristy
- Cerhan, James R.
- Geschwind, Daniel H.
- Ritchie, Marylyn D.
- Salerno, William J.
- Shuldiner, Alan R.
- Rader, Daniel J.
- Mirshahi, Tooraj
- Marchini, Jonathan
- Overton, John D.
- Carey, David J.
- Habegger, Lukas
- Reid, Jeffrey G.
- Economides, Aris
- Kyratsous, Christos
- Karalis, Katia
- Baum, Alina
- Cantor, Michael N.
- Rand, Kristin A.
- Hong, Eurie L.
- Ball, Catherine A.
- Siminovitch, Katherine
- Baras, Aris
- Abecasis, Goncalo R.
- Ferreira, Manuel A. R.
2024
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American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.1030-1036
2018
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