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Science (American Association for the Advancement of Science), 2016-07, Vol.353 (6297), p.389-394
2016
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Nature biotechnology, 2012-02, Vol.30 (2), p.190-192
2012
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Nature communications, 2019-09, Vol.10 (1), p.4272-17, Article 4272
- Brouwer, Philip J M
- Antanasijevic, Aleksandar
- Berndsen, Zachary
- Yasmeen, Anila
- Fiala, Brooke
- Bijl, Tom P L
- Bontjer, Ilja
- Bale, Jacob B
- Sheffler, William
- Allen, Joel D
- Schorcht, Anna
- Burger, Judith A
- Camacho, Miguel
- Ellis, Daniel
- Cottrell, Christopher A
- Behrens, Anna-Janina
- Catalano, Marco
- Del Moral-Sánchez, Iván
- Ketas, Thomas J
- LaBranche, Celia
- van Gils, Marit J
- Sliepen, Kwinten
- Stewart, Lance J
- Crispin, Max
- Montefiori, David C
- Baker, David
- Moore, John P
- Klasse, Per Johan
- Ward, Andrew B
- King, Neil P
- Sanders, Rogier W
2019
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Nature (London), 2014-06, Vol.510 (7503), p.103-108
2014
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Nature (London), 2016-07, Vol.535 (7610), p.136-139
2016
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Nature (London), 2017-12, Vol.552 (7685), p.415-420
2017
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Protein science, 2015-10, Vol.24 (10), p.1695-1701
2015
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Nature (London), 2016-12, Vol.540 (7631), p.150-150
2016
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Nature (London), 2016-12, Vol.540 (7631), p.150-150
2016
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Nature (London), 2014-05, Vol.510 (7503), p.103-108
2014
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Biophysical journal, 2014-01, Vol.106 (2), p.445a-445a
2014
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Nature biotechnology, 2012-01, Vol.30 (2), p.190-192
2012
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Nature (London), 2016-07, Vol.535 (7610), p.136
2016
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Proceedings of the National Academy of Sciences - PNAS, 2015-03, Vol.112 (12), p.3704-3709
2015
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Human molecular genetics, 2022-08, Vol.31 (17), p.2934-2950
- Barish, Scott
- Senturk, Mumine
- Schoch, Kelly
- Minogue, Amanda L
- Lopergolo, Diego
- Fallerini, Chiara
- Harland, Jake
- Seemann, Jacob H
- Stong, Nicholas
- Kranz, Peter G
- Kansagra, Sujay
- Mikati, Mohamad A
- Jasien, Joan
- El-Dairi, Mays
- Galluzzi, Paolo
- Ariani, Francesca
- Renieri, Alessandra
- Mari, Francesca
- Wangler, Michael F
- Arur, Swathi
- Jiang, Yong-Hui
- Yamamoto, Shinya
- Shashi, Vandana
- Bellen, Hugo J
2022
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American journal of human genetics, 2019-06, Vol.104 (6), p.1127-1138
- Becerril, Alissa
- Larson, Austin
- Zerfas, Patricia M.
- Acosta, Maria T.
- Agrawal, Pankaj
- Alejandro, Mercedes E.
- Andrews, Ashley
- Bacino, Carlos A.
- Bademci, Guney
- Baker, Eva
- Baldridge, Dustin
- Bale, Jim
- Barbouth, Deborah
- Batzli, Gabriel F.
- Bayrak-Toydemir, Pinar
- Bernstein, Jonathan A.
- Birch, Camille L.
- Bivona, Stephanie
- Bohnsack, John
- Bonnenmann, Carsten
- Bostwick, Bret L.
- Brokamp, Elly
- Burrage, Lindsay C.
- Carey, John
- Clark, Gary D.
- Cope, Heidi
- Dasari, Surendra
- Dayal, Jyoti G.
- Dorset, Daniel C.
- Eng, Christine M.
- Esteves, Cecilia
- Fresard, Laure
- Goldman, Alica M.
- Goldstein, David B.
- Groden, Catherine A.
- Haendel, Melissa
- Hayes, Nichole
- Holm, Ingrid A.
- Jiang, Yong-hui
- Johnston, Jean M.
- Jones, Angela L.
- Kohane, Isaac S.
- Krakow, Deborah
- Krasnewich, Donna M.
- Korrick, Susan
- Krier, Joel B.
- Lalani, Seema R.
- Lam, Byron
- Lazar, Jozef
- Levy, Shawn E.
- Liu, Xue Zhong
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Marom, Ronit
- Martínez-Agosto, Julian A.
- McCormack, Colleen E.
- McCray, Alexa T.
- Might, Matthew
- Morava-Kozicz, Eva
- Murdock, David R.
- Nath, Avi
- Nelson, Stan F.
- Newman, John H.
- Orengo, James P.
- Pace, Laura
- Papp, Jeanette C.
- Parker, Neil H.
- Potocki, Lorraine
- Raja, Archana N.
- Reuter, Chloe M.
- Rives, Lynette
- Rowley, Robb K.
- Sampson, Jacinda B.
- Saporta, Mario
- Schedl, Timothy
- Shields, Kathleen
- Signer, Rebecca
- Sillari, Catherine H.
- Sisco, Kathy
- Spillmann, Rebecca C.
- Stoler, Joan M.
- Stong, Nicholas
- Sullivan, Jennifer A.
- Tekin, Mustafa
- Thorson, Willa
- Tran, Alyssa A.
- Wahl, Colleen E.
- Wan, Jijun
- Wang, Lee-kai
- Wangler, Michael F.
- Westerfield, Monte
- Wheeler, Matthew T.
- Wolfe, Lynne A.
- Woods, Jeremy D.
- Worthey, Elizabeth A.
- Yamamoto, Shinya
- Zuchner, Stephan
- Day-Salvatore, Debra L.
- Mindell, Joseph A.
2019
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Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.206-206, Article 206
2021
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American journal of human genetics, 2020-04, Vol.106 (4), p.570-583
- Mao, Dongxue
- Reuter, Chloe M.
- Farrow, Emily G.
- Rosenfeld, Jill A.
- Mackenzie, Katherine M.
- Küry, Sébastien
- Genetti, Casie A.
- Alejandro, Mercedes
- Agrawal, Pankaj B.
- Alvey, Justin
- Ashley, Euan A.
- Balasubramanyam, Ashok
- Beck, Anita
- Bellen, Hugo J.
- Berg-Rood, Beverly
- Bernier, Raphael
- Bivona, Stephanie
- Bohnsack, John
- Briere, Lauren C.
- Burke, Elizabeth A.
- Butte, Manish J.
- Carrasquillo, Olveen
- Cogan, Joy D.
- Cole, F. Sessions
- Colley, Heather A.
- Cooper, Cynthia M.
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Dhar, Shweta U.
- Emrick, Lisa T.
- Estwick, Tyra
- Ferreira, Carlos
- Fieg, Elizabeth L.
- Fogel, Brent L.
- Forghani, Irman
- Gahl, William A.
- Godfrey, Rena A.
- Goldman, Alica M.
- Hahn, Sihoun
- Hanchard, Neil A.
- Hing, Anne
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
- Jayadev, Suman
- Karaviti, Lefkothea
- Kelley, Emily G.
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Krakow, Deborah
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lam, Byron
- Lanpher, Brendan C.
- Lanza, Ian R.
- Lee, Brendan H.
- Lewis, Richard A.
- Loo, Sandra K.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McCormack, Colleen E.
- Merritt, J. Lawrence
- Moretti, Paolo M.
- Mulvihill, John J.
- Murdock, David R.
- Nickerson, Deborah
- Pallais, J. Carl
- Posey, Jennifer E.
- Potocki, Lorraine
- Raja, Archana N.
- Renteria, Genecee
- Samson, Susan L.
- Schedl, Timothy
- Shakachite, Lisa
- Signer, Rebecca
- Silverman, Edwin K.
- Sybert, Virginia
- Tekin, Mustafa
- Thorson, Willa
- Tran, Alyssa A.
- Urv, Tiina K.
- Wahl, Colleen E.
- Wegner, Daniel
- Wheeler, Matthew T.
- Yamamoto, Shinya
- Yang, John
- Yoon, Amanda J.
- Yu, Guoyun
- Zastrow, Diane B.
- Zhao, Chunli
- Bernstein, Jonathan A.
- Chao, Hsiao-Tuan
2020
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Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1420-1435
- Srivastava, Siddharth
- Shaked, Hagar Mor
- Gable, Kenneth
- Gupta, Sita D
- Pan, Xueyang
- Somashekarappa, Niranjanakumari
- Han, Gongshe
- Mohassel, Payam
- Gotkine, Marc
- Doney, Elizabeth
- Goldenberg, Paula
- Tan, Queenie K G
- Gong, Yi
- Kleinstiver, Benjamin
- Wishart, Brian
- Cope, Heidi
- Pires, Claudia Brito
- Stutzman, Hannah
- Spillmann, Rebecca C
- Sadjadi, Reza
- Elpeleg, Orly
- Lee, Chia-Hsueh
- Bellen, Hugo J
- Edvardson, Simon
- Eichler, Florian
- Dunn, Teresa M
2023
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Genetics in medicine, 2021-04, Vol.23 (4), p.740-750
- Ruiter, Jos P.N.
- van Lint, Alida E.M.
- Pras-Raves, Mia
- Wever, Eric
- Guillen Sacoto, Maria J.
- Begtrup, Amber
- Tarnopolsky, Mark
- Sell, Susan L.
- Nowak, Catherine B.
- Douglas, Jessica
- Perlman, Seth
- Martin, Nicole
- Brault, Jennifer
- Gahl, William A.
- Alejandro, Mercedes E.
- Dai, Hongzheng
- Dhar, Shweta U.
- Hanchard, Neil A.
- Lee, Brendan H.
- Moretti, Paolo M.
- Murdock, David R.
- Nicholas, Sarah K.
- Potocki, Lorraine
- Scott, Daryl A.
- Eng, Christine M.
- Deardorff, Matthew
- Hassey, Kelly
- Sullivan, Kathleen
- Tan, Queenie K.-G.
- Beggs, Alan H.
- Berry, Gerard T.
- Cooper, Cynthia M.
- Pallais, J. Carl
- Rodan, Lance H.
- Kelley, Emily G.
- Morava, Eva
- Forghani, Irman
- Lam, Byron
- Levitt, Roy
- Liu, Xue Zhong
- McCauley, Jacob
- Tekin, Mustafa
- Thorson, Willa
- Findley, Laurie C.
- Krasnewich, Donna M.
- Manolio, Teri A.
- Goldrich, Madison P.
- Draper, David D.
- Nath, Avi
- Pusey, Barbara N.
- Toro, Camilo
- Baker, Eva
- Gochuico, Bernadette
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Adam, Margaret
- Amendola, Laura
- Cunningham, Michael
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Lam, Christina
- Raskind, Wendy
- Sybert, Virginia
- Ashley, Euan A.
- Coakley, Terra R.
- Hom, Jason
- Majcherska, Marta M.
- Martin, Beth A.
- Marwaha, Shruti
- Ruzhnikov, Maura
- Tabor, Holly K.
- Tucker, Brianna M.
- Zastrow, Diane B.
- Byrd, William E.
- Dell’Angelica, Esteban C.
- Douine, Emilie D.
- Mak, Bryan C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McGee, Elisabeth
- Nelson, Stanley F.
- Parker, Neil H.
- Sinsheimer, Janet S.
- Wang, Lee-kai
- Perry, Katherine Wesseling
- Woods, Jeremy D.
- Pace, Laura
- Marth, Gabor
- Viskochil, Dave
- Bayrak-Toydemir, Pinar
- Duncan, Laura
- Robertson, Amy K.
- Solem, Emily
- Schedl, Timothy
- Shin, Jimann
- Solnica-Krezel, Lilianna
- Waisfisz, Quinten
- Zwijnenburg, Petra J.G.
- Wanders, Ronald J.A.
- Vaz, Frédéric M.
2021
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Brain (London, England : 1878), 2020-08, Vol.143 (8), p.2437-2453
- Schneeberger, Pauline E
- Kortüm, Fanny
- Korenke, Georg Christoph
- Alawi, Malik
- Santer, René
- Woidy, Mathias
- Buhas, Daniela
- Fox, Stephanie
- Juusola, Jane
- Alfadhel, Majid
- Webb, Bryn D
- Coci, Emanuele G
- Abou Jamra, Rami
- Siekmeyer, Manuela
- Biskup, Saskia
- Heller, Corina
- Maier, Esther M
- Javaher-Haghighi, Poupak
- Bedeschi, Maria F
- Ajmone, Paola F
- Iascone, Maria
- Peeters, Hilde
- Ballon, Katleen
- Jaeken, Jaak
- Rodríguez Alonso, Aroa
- Palomares-Bralo, María
- Santos-Simarro, Fernando
- Meuwissen, Marije E C
- Beysen, Diane
- Kooy, R Frank
- Houlden, Henry
- Murphy, David
- Doosti, Mohammad
- Karimiani, Ehsan G
- Mojarrad, Majid
- Maroofian, Reza
- Noskova, Lenka
- Kmoch, Stanislav
- Honzik, Tomas
- Cope, Heidi
- Sanchez-Valle, Amarilis
- Gelb, Bruce D
- Kurth, Ingo
- Hempel, Maja
- Kutsche, Kerstin
2020
Link zum Volltext
American journal of human genetics, 2023-05, Vol.110 (5), p.774-789
- Tepe, Burak
- Cogne, Benjamin
- Neil, Jennifer E.
- Walsh, Christopher A.
- Magal, Nurit
- Drasinover, Valerie
- Schwab, Tanya
- Schmitz, Chris
- Clark, Karl
- Blanc, Pierre
- Bademci, Guney
- Balasubramanyam, Ashok
- Baldridge, Dustin
- Bayrak-Toydemir, Pinar
- Beck, Anita
- Behrens, Edward
- Bican, Anna
- Bivona, Stephanie
- Blue, Elizabeth
- Boyd, Brenna
- Briere, Lauren C.
- Brown, Gabrielle
- Byers, Peter
- Byrd, William E.
- Carey, John
- Clark, Gary D.
- Coakley, Terra R.
- Colley, Heather A.
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Deardorff, Matthew
- Dipple, Katrina
- Doherty, Daniel
- Doss, Argenia L.
- Emrick, Lisa T.
- Fernandez, Liliana
- Forghani, Irman
- Glass, Ian
- Gochuico, Bernadette
- Golden-Grant, Katie
- Goldrich, Madison P.
- Gutierrez, Irma
- Hamid, Rizwan
- Hayes, Nichole
- Hom, Jason
- Horike-Pyne, Martha
- Isasi, Rosario
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kiley, Dana
- Kobren, Shilpa N.
- Krasnewich, Donna M.
- LeBlanc, Kimberly
- Levitt, Roy
- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- Merritt, J. Lawrence
- Morava, Eva
- Newman, John H.
- Nickerson, Deborah
- Novacic, Donna
- Oglesbee, Devin
- Pace, Laura
- Palmer, Christina GS
- Papp, Jeanette C.
- Rao, Deepak A.
- Renteria, Genecee
- Reuter, Chloe M.
- Robertson, Amy K.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Ruzhnikov, Maura
- Scott, C. Ron
- Shin, Jimann
- Sinsheimer, Janet S.
- Sullivan, Jennifer A.
- Sun, Angela
- Tabor, Holly K.
- Telischi, Fred
- Toro, Camilo
- Tucker, Brianna M.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Walker, Melissa
- Wangler, Michael F.
- Perry, Katherine Wesseling
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Zuchner, Stephan
2023
Link zum Volltext
American journal of human genetics, 2019-08, Vol.105 (2), p.413-424
- Kanca, Oguz
- Andrews, Jonathan C.
- Patel, Chirag
- Slavotinek, Anne M.
- Williams, Judy
- Indaram, Maanasa
- Lau, C. Christopher
- Adams, David R.
- Agrawal, Pankaj
- Bademci, Guney
- Baker, Eva
- Baldridge, Dustin
- Bale, Jim
- Batzli, Gabriel F.
- Bayrak-Toydemir, Pinar
- Bernstein, Jonathan A.
- Bick, David P.
- Bohnsack, John
- Briere, Lauren C.
- Carey, John
- Cogan, Joy D.
- Cole, F. Sessions
- D'Souza, Precilla
- Dayal, Jyoti G.
- Dorset, Daniel C.
- Douine, Emilie D.
- Draper, David D.
- Duncan, Laura
- Fieg, Elizabeth L.
- Forghani, Irman
- Fresard, Laure
- Godfrey, Rena A.
- Goldman, Alica M.
- Groden, Catherine A.
- Haendel, Melissa
- Hayes, Nichole
- Huang, Alden
- Huang, Yong
- Jones, Angela L.
- Krasnewich, Donna M.
- Kyle, Jennifer E.
- Lalani, Seema R.
- Levy, Shawn E.
- Liu, Xue Zhong
- Loo, Sandra K.
- Loscalzo, Joseph
- Markello, Thomas C.
- Marth, Gabor
- McConkie-Rosell, Allyn
- Might, Matthew
- Morimoto, Marie
- Nelson, Stan F.
- Newberry, J. Scott
- Newman, John H.
- Orengo, James P.
- Pak, Stephen
- Pallais, J. Carl
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Parker, Neil H.
- Pusey, Barbara N.
- Quinlan, Aaron
- Raja, Archana N.
- Rosenfeld, Jill A.
- Ruzhnikov, Maura
- Samson, Susan L.
- Schaechter, Judy
- Schedl, Timothy
- Schoch, Kelly
- Shakachite, Lisa
- Sharma, Prashant
- Shashi, Vandana
- Shields, Kathleen
- Sillari, Catherine H.
- Sinsheimer, Janet S.
- Smith, Kevin S.
- Solnica-Krezel, Lilianna
- Spillmann, Rebecca C.
- Stong, Nicholas
- Sweetser, David A.
- Tekin, Mustafa
- Telischi, Fred
- Tran, Alyssa A.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Walley, Nicole M.
- Wang, Lee-kai
- Wangler, Michael F.
- Wegner, Daniel
- Wolfe, Lynne A.
- Worthey, Elizabeth A.
- Yu, Guoyun
- Zhao, Chunli
- Chung, Wendy K.
- Dobyns, William B.
- Gahl, William A.
- Malicdan, May Christine V.
2019
Link zum Volltext
American journal of human genetics, 2019-10, Vol.105 (4), p.854-868
- Accogli, Andrea
- Calabretta, Sara
- St-Onge, Judith
- Boudrahem-Addour, Nassima
- Dionne-Laporte, Alexandre
- Joset, Pascal
- Azzarello-Burri, Silvia
- Rauch, Anita
- Krier, Joel
- Fieg, Elizabeth
- Pallais, Juan C
- McConkie-Rosell, Allyn
- McDonald, Marie
- Freedman, Sharon F
- Rivière, Jean-Baptiste
- Lafond-Lapalme, Joël
- Simpson, Brittany N
- Hopkin, Robert J
- Trimouille, Aurélien
- Van-Gils, Julien
- Begtrup, Amber
- McWalter, Kirsty
- Delphine, Heron
- Keren, Boris
- Genevieve, David
- Argilli, Emanuela
- Sherr, Elliott H
- Severino, Mariasavina
- Rouleau, Guy A
- Yam, Patricia T
- Charron, Frédéric
- Srour, Myriam
2019
Link zum Volltext
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Kurata, Harley T.
- Jamra, Rami Abou
- Alkelai, Anna
- Antonarakis, Stylianos E.
- Bolkier, Yoav
- Dickson, Patricia
- Donald, Kirsten A.
- Eliyahu, Aviva
- Emrick, Lisa
- Odent, Sylvie
- Ortiz-Gonzalez, Xilma
- Rosenfeld, Jill A.
- Skraban, Cara
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Chao, Hsiao-Tuan
- Dai, Hongzheng
- Dhar, Shweta U.
- Karaviti, Lefkothea
- Lee, Brendan H.
- Scott, Daryl A.
- Wangler, Michael F.
- Eng, Christine M.
- Sullivan, Kathleen
- Goldstein, David B.
- McConkie-Rosell, Allyn
- Schoch, Kelly
- Shashi, Vandana
- Beggs, Alan H.
- Cobban, Laurel A.
- Cooper, Cynthia M.
- Fieg, Elizabeth L.
- Korrick, Susan
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Stoler, Joan M.
- Nagy, Anna
- Dasari, Surendra
- Lanpher, Brendan C.
- Bivona, Stephanie
- Isasi, Rosario
- Levitt, Roy
- Tekin, Mustafa
- Thorson, Willa
- Eckstein, David J.
- Mamounas, Laura A.
- D’Souza, Precilla
- Ferreira, Carlos
- Godfrey, Rena A.
- Groden, Catherine A.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Nath, Avi
- Baker, Eva
- Power, Bradley
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Yousef, Muhammad
- Amendola, Laura
- Bamshad, Michael
- Beck, Anita
- Bennett, Jimmy
- Blue, Elizabeth
- Chanprasert, Sirisak
- Glass, Ian
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Mefford, Heather
- Merritt, J. Lawrence
- Raskind, Wendy
- Sybert, Virginia
- Wener, Mark
- Wenger, Tara
- Fisher, Paul G.
- Reuter, Chloe M.
- Smith, Kevin S.
- Zastrow, Diane B.
- Nakano-Okuno, Mariko
- Whitlock, Jordan
- Butte, Manish J.
- Fogel, Brent L.
- Krakow, Deborah
- Lee, Hane
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Woods, Jeremy D.
- Andrews, Ashley
- Pace, Laura
- Viskochil, Dave
- Bican, Anna
- Kennedy, Jennifer
- Cogan, Joy D.
- Cole, F. Sessions
- Kiley, Dana
- Sisco, Kathy
- Schedl, Timothy
- Solnica-Krezel, Lilianna
- Pitt, Geoffrey S.
2021
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