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BMC bioinformatics, 2020-12, Vol.21 (1), p.569-569, Article 569
2020
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Npj genomic medicine, 2021-07, Vol.6 (1), p.60-60, Article 60
2021
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Scientific reports, 2021-10, Vol.11 (1), p.20307-20307, Article 20307
2021
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Scientific reports, 2022-04, Vol.12 (1), p.5800-5800, Article 5800
2022
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BMC medical genomics, 2019-12, Vol.12 (1), p.190-190, Article 190
2019
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Journal of medical genetics, 2018-12, Vol.55 (12), p.824
2018
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100509, Article 100509
2023
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Genetics in Medicine Open, 2024, Vol.2, p.101470, Article 101470
2024
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Journal of personalized medicine, 2022-01, Vol.12 (1), p.73
2022
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S106-S107
2021
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S106-S107
2021
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Genetics in medicine, 2022-03, Vol.24 (3), p.S170-S170
2022
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Journal of clinical and translational science, 2017-12, Vol.1 (6), p.381-386
2017
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Genetics in medicine, 2022-03, Vol.24 (3), p.S260-S260
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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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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Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.206-206, Article 206
2021
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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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The Journal of experimental medicine, 2024-08, Vol.221 (8)
- Rael, Victoria E
- Yano, Julian A
- Huizar, John P
- Slayden, Leianna C
- Weiss, Madeleine A
- Turcotte, Elizabeth A
- Terry, Jacob M
- Zuo, Wenqi
- Thiffault, Isabelle
- Pastinen, Tomi
- Farrow, Emily G
- Jenkins, Janda L
- Becker, Mara L
- Wong, Stephen C
- Stevens, Anne M
- Otten, Catherine
- Allenspach, Eric J
- Bonner, Devon E
- Bernstein, Jonathan A
- Wheeler, Matthew T
- Saxton, Robert A
- Liu, Bo
- Majer, Olivia
- Barton, Gregory M
2024
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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
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American journal of human genetics, 2024-01, Vol.111 (1), p.96-118
- Michener, Sydney L.
- Chan, Hiuling
- Rosenfeld, Jill A.
- Bekheirnia, Mir Reza
- Wagner, Matias
- Engels, Hartmut
- Guillen Sacoto, Maria J.
- McDonnell, Pamela P.
- Pastinen, Tomi
- Zhou, Dihong
- Bolton, Jeffrey
- Julia Suh, Dong Sun
- Toosi, Mehran Beiraghi
- Maroofian, Reza
- Schaefer, Gerald Bradley
- Russ-Hall, Sophie
- Carvill, Gemma L.
- Mefford, Heather
- Acosta, Maria T.
- Adams, David R.
- Amendola, Laura
- Bademci, Guney
- Balasubramanyam, Ashok
- Beck, Anita
- Bican, Anna
- Blue, Elizabeth
- Botto, Lorenzo
- Boyd, Brenna
- Briere, Lauren C.
- Brown, Gabrielle
- Carey, John
- Crouse, Andrew B.
- Dipple, Katrina
- Doss, Argenia L.
- Douine, Emilie D.
- Eckstein, David J.
- Fieg, Elizabeth L.
- Forghani, Irman
- Godfrey, Rena A.
- Grajewski, Alana
- Hahn, Sihoun
- Hisama, Fuki M.
- Hutchison, Sarah
- Introne, Wendy
- Ketkar, Shamika
- Kiley, Dana
- Kilich, Gonench
- Korrick, Susan
- Kozuira, Mary
- Krakow, Deborah
- Kravets, Elijah
- Lalani, Seema R.
- LeBlanc, Kimberly
- Levitt, Roy
- Lewis, Richard A.
- Loo, Sandra K.
- Mahoney, Rachel
- Mao, Rong
- Maravilla, Kenneth
- Marwaha, Shruti
- McCray, Alexa T.
- Merritt, J. Lawrence
- Morava, Eva
- Nakano-Okuno, Mariko
- Nelson, Stanley F.
- Phillips III, John A.
- Posey, Jennifer E.
- Potocki, Lorraine
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Reuter, Chloe M.
- Robertson, Amy K.
- Rossignol, Francis
- Ruzhnikov, Maura
- Saporta, Mario
- Seto, Elaine
- Sisco, Kathy
- Spillmann, Rebecca C.
- Stoler, Joan M.
- Tabor, Holly K.
- Tan, Queenie K.-G.
- Tan, Amelia L.M.
- Telischi, Fred
- Tifft, Cynthia J.
- Toro, Camilo
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vogel, Tiphanie P.
- Wallace, Stephanie
- Wambach, Jennifer
- Wegner, Daniel
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Worley, Kim
- Xiao, Changrui
- Yang, John
- Chao, Hsiao-Tuan
2024
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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
Volltextzugriff (PDF)
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
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American journal of human genetics, 2023-08, Vol.110 (8), p.1414-1435
- Niggl, Eva
- Elgersma, Minetta
- Clayton-Smith, Jill
- Jain, Mahim
- Krantz, Ian
- Vetrini, Francesco
- Witt, Dennis
- Zhou, Dihong
- Arumugam, P.
- Boardman-Pretty, F.
- Brown, M.A.
- Chan, G.C.
- Henderson, S.
- Kayikci, M.
- Kousathanas, A.
- Lahnstein, L.
- Maleady-Crowe, F.
- McEntagart, M.
- Minneci, F.
- O‘Donovan, P.
- Pereira, M.B.
- Rahim, T.
- Savage, K.
- Sawant, K.
- Smith, S.C.
- Sosinsky, A.
- Tucci, A.
- Williams, E.
- Alvey, Justin
- Andrews, Ashley
- Baldridge, Dustin
- Bale, Jim
- Bamshad, Michael
- Bayrak-Toydemir, Pinar
- Bejerano, Gill
- Bican, Anna
- Bivona, Stephanie
- Bonner, Devon
- Burke, Elizabeth A.
- Chang, Ta Chen
- Chanprasert, Sirisak
- Chao, Hsiao-Tuan
- Clark, Gary D.
- Corona, Rosario
- Crouse, Andrew B.
- Dipple, Katrina
- Doss, Argenia L.
- Fisher, Paul G.
- Fu, Jiayu
- Gahl, William A.
- Hamid, Rizwan
- Hassey, Kelly
- Huang, Yan
- Introne, Wendy
- Izumi, Kosuke
- Jean-Marie, Orpa
- Kaitryn, Emerald
- Ketkar, Shamika
- Kiley, Dana
- Kilich, Gonench
- Kohane, Isaac S.
- Krakow, Deborah
- Lewis, Richard A.
- Loscalzo, Joseph
- Maghiro, AudreyStephannie
- Mahoney, Rachel
- Mao, Rong
- Marth, Gabor
- McCauley, Jacob
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- McGee, Elisabeth
- Mirzaa, Ghayda
- Morava, Eva
- Morimoto, Marie
- Nelson, Stanley F.
- Novacic, Donna
- Posey, Jennifer E.
- Potocki, Lorraine
- Swerdzewski, Barbara N.
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Schaechter, Judy
- Shashi, Vandana
- Shin, Jimann
- Sinsheimer, Janet
- Solnica-Krezel, Lilianna
- Sullivan, Kathleen
- Tan, Amelia L.
- Tarakad, Arjun
- Telischi, Fred
- Urv, Tiina K.
- Wahl, Colleen E.
- Wan, Jijun
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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