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American journal of medical genetics. Part C, Seminars in medical genetics, 2016-12, Vol.172C (4), p.367-383
2016
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PLoS genetics, 2023-11, Vol.19 (11), p.e1011005-e1011005
- Marom, Ronit
- Zhang, Bo
- Washington, Megan E
- Song, I-Wen
- Burrage, Lindsay C
- Rossi, Vittoria C
- Berrier, Ava S
- Lindsey, Anika
- Lesinski, Jacob
- Nonet, Michael L
- Chen, Jian
- Baldridge, Dustin
- Silverman, Gary A
- Sutton, V Reid
- Rosenfeld, Jill A
- Tran, Alyssa A
- Hicks, M John
- Murdock, David R
- Dai, Hongzheng
- Weis, MaryAnn
- Jhangiani, Shalini N
- Muzny, Donna M
- Gibbs, Richard A
- Caswell, Richard
- Pottinger, Carrie
- Cilliers, Deirdre
- Stals, Karen
- Eyre, David
- Krakow, Deborah
- Schedl, Tim
- Pak, Stephen C
- Lee, Brendan H
- Barsh, Gregory S.
2023
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100159, Article 100159
2023
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Disease models & mechanisms, 2023-08, Vol.16 (8)
2023
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European journal of endocrinology, 2020-10, Vol.183 (4), p.R95
2020
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Current opinion in pediatrics, 2019-12, Vol.31 (6), p.708
2019
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Current opinion in pediatrics, 2016-12, Vol.28 (6), p.694-699
2016
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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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Molecular genetics and metabolism, 2023-07, Vol.139 (3), p.107609-107609, Article 107609
2023
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Clinical pediatrics, 2020-07, Vol.59 (8), p.841-843
2020
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Mammalian genome, 2024-06, Vol.35 (2), p.113-121
2024
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Nature genetics, 2023-09, Vol.55 (9), p.1598-1607
- Dingemans, Alexander J M
- Hinne, Max
- Truijen, Kim M G
- Goltstein, Lia
- van Reeuwijk, Jeroen
- de Leeuw, Nicole
- Schuurs-Hoeijmakers, Janneke
- Pfundt, Rolph
- Diets, Illja J
- den Hoed, Joery
- de Boer, Elke
- Coenen-van der Spek, Jet
- Jansen, Sandra
- van Bon, Bregje W
- Jonis, Noraly
- Ockeloen, Charlotte W
- Vulto-van Silfhout, Anneke T
- Kleefstra, Tjitske
- Koolen, David A
- Campeau, Philippe M
- Palmer, Elizabeth E
- Van Esch, Hilde
- Lyon, Gholson J
- Alkuraya, Fowzan S
- Rauch, Anita
- Marom, Ronit
- Baralle, Diana
- van der Sluijs, Pleuntje J
- Santen, Gijs W E
- Kooy, R Frank
- van Gerven, Marcel A J
- Vissers, Lisenka E L M
- de Vries, Bert B A
2023
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Clinical genetics, 2016-10, Vol.90 (4), p.351-360
2016
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Genetics in medicine, 2019-01, Vol.21 (1), p.161-172
- Schoch, Kelly
- Spillmann, Rebecca
- Tan, Queenie K.-G.
- McConkie-Rosell, Allyn
- Jiang, Yong-Hui
- Goldstein, David B.
- Adams, David R.
- Allard, Patrick
- Ashley, Euan A.
- Bacino, Carlos A.
- Beggs, Alan H.
- Birch, Camille L.
- Bonner, Devon
- Boone, Braden E.
- Brown, Donna M.
- Chen, Shan
- Coakley, Terra R.
- Cogan, Joy D.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- Davidson, Jean M.
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dipple, Katrina M.
- Donnell-Fink, Laurel A.
- Dorrani, Naghmeh
- Draper, David D.
- Dries, Annika M.
- Eckstein, David J.
- Emrick, Lisa T.
- Enns, Gregory M.
- Esteves, Cecilia
- Estwick, Tyra
- Fernandez, Liliana
- Ferreira, Carlos
- Fisher, Paul G.
- Fogel, Brent L.
- Friedman, Noah D.
- Gahl, William A.
- Gourdine, Jean-Philippe F.
- Haendel, Melissa
- Handley, Lori H.
- Krasnewich, Donna M.
- Krier, Joel B.
- Lazar, Jozef
- Levy, Shawn E.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Majcherska, Marta M.
- Mamounas, Laura A.
- Manolio, Teri A.
- Markello, Thomas C.
- Marom, Ronit
- Martin, Martin G.
- McCormack, Colleen E.
- Might, Matthew
- Morimoto, Marie
- Mulvihill, John J.
- Murphy, Jennifer L.
- Muzny, Donna M.
- Nehrebecky, Michele E.
- Nelson, Stan F.
- Newberry, J. Scott
- Newman, John H.
- Nicholas, Sarah K.
- Pallais, J. Carl
- Palmer, Christina GS
- Parker, Neil H.
- Phillips, John A.
- Postlethwait, John H.
- Reuter, Chloe M.
- Sampson, Jacinda B.
- Scott, Daryl A.
- Sharma, Prashant
- Shashi, Vandana
- Silverman, Edwin K.
- Tifft, Cynthia J.
- Toro, Camilo
- Tran, Alyssa A.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Walsh, Chris A.
- Wan, Jijun
- Wangler, Michael F.
- Ward, Patricia A.
- Wheeler, Matthew T.
- Wolfe, Lynne A.
- Worthey, Elizabeth A.
- Yamamoto, Shinya
- Yang, Yaping
- Yu, Guoyun
- Zhao, Chunli
- Zheng, Allison
2019
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Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.256-256
2022
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Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.256
2022
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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 clinical investigation, 2024-08, Vol.134 (15), p.1-17
- Marom, Ronit
- Song, I-Wen
- Busse, Emily C.
- Washington, Megan E.
- Berrier, Ava S.
- Rossi, Vittoria C.
- Ortinau, Laura
- Jeong, Youngjae
- Jiang, Ming-Ming
- Dawson, Brian C.
- Adeyeye, Mary
- Leynes, Carolina
- Lietman, Caressa D.
- Stroup, Bridget M.
- Batkovskyte, Dominyka
- Jain, Mahim
- Chen, Yuqing
- Cela, Racel
- Castellon, Alexis
- Tran, Alyssa A.
- Lorenzo, Isabel
- Meyers, D. Nicole
- Huang, Shixia
- Turner, Alicia
- Shenava, Vinitha
- Wallace, Maegen
- Orwoll, Eric
- Park, Dongsu
- Ambrose, Catherine G.
- Nagamani, Sandesh C.S.
- Heaney, Jason D.
- Lee, Brendan H.
2024
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American journal of human genetics, 2018-03, Vol.102 (3), p.494-504
- Yoon, Wan Hee
- Jangam, Sharayu
- Davidson, Jean M.
- Grove, Megan E.
- Kohler, Jennefer N.
- Holmes, Matthew
- Zhao, Chunli
- Contrepois, Kévin
- Heyman, Heino M.
- Webb-Robertson, Bobbie-Jo M.
- Alejandro, Mercedes E.
- Allard, Patrick
- Balasubramanyam, Ashok
- Barseghyan, Hayk
- Bican, Anna
- Birch, Camille L.
- Bostwick, Bret L.
- Briere, Lauren C.
- Brown, Donna M.
- Brush, Matthew
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- D’Souza, Precilla
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dorset, Daniel C.
- Draper, David D.
- Eckstein, David J.
- Emrick, Lisa T.
- Esteves, Cecilia
- Estwick, Tyra
- Ferreira, Carlos
- Glanton, Emily
- Godfrey, Rena A.
- Goldstein, David B.
- Gould, Sarah E.
- Gourdine, Jean-Philippe F.
- Hanchard, Neil A.
- Herzog, Matthew R.
- Hom, Jason
- Howerton, Ellen M.
- Huang, Yong
- Jacob, Howard J.
- Jiang, Yong-hui
- Johnston, Jean M.
- Jones, Angela L.
- Kohane, Isaac S.
- Krier, Joel B.
- Lazar, Jozef
- Lee, Hane
- Levy, Shawn E.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Majcherska, Marta M.
- Mamounas, Laura A.
- Manolio, Teri A.
- Markello, Thomas C.
- Marom, Ronit
- May, Thomas
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Moretti, Paolo M.
- Novacic, Donna
- Orange, Jordan S.
- Palmer, Christina G.S.
- Potocki, Lorraine
- Pusey, Barbara N.
- Robertson, Amy K.
- Rodan, Lance H.
- Rosenfeld, Jill A.
- Samson, Susan L.
- Schoch, Kelly
- Schroeder, Molly C.
- Shashi, Vandana
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Spillmann, Rebecca C.
- Stong, Nicholas
- Tifft, Cynthia J.
- Tran, Alyssa A.
- Valivullah, Zaheer M.
- Ward, Patricia A.
- Yamamoto, Shinya
- Snyder, Michael
- Merker, Jason D.
- Fisher, Paul G.
- Mayr, Johannes A.
- Morris, Andrew A.
- Schelley, Susan
- Friederich, Marisa W.
- Wangler, Michael F.
- Taylor, Robert W.
- Bernstein, Jonathan A.
2018
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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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Human molecular genetics, 2020-08, Vol.29 (13), p.2171-2184
- Stroup, Bridget M
- Marom, Ronit
- Li, Xiaohui
- Hsu, Chih-Wei
- Chang, Cheng-Yen
- Truong, Luan D
- Dawson, Brian
- Grafe, Ingo
- Chen, Yuqing
- Jiang, Ming-Ming
- Lanza, Denise
- Green, Jennie Rose
- Sun, Qin
- Barrish, J P
- Ani, Safa
- Christiansen, Audrey E
- Seavitt, John R
- Dickinson, Mary E
- Kheradmand, Farrah
- Heaney, Jason D
- Lee, Brendan
- Burrage, Lindsay C
2020
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Genetics in medicine, 2019-12, Vol.21 (12), p.2713-2722
- Nizon, Mathilde
- Laugel, Vincent
- Flanigan, Kevin M
- Pastore, Matthew
- Waldrop, Megan A
- Rosenfeld, Jill A
- Marom, Ronit
- Xiao, Rui
- Gerard, Amanda
- Pichon, Olivier
- Le Caignec, Cédric
- Gérard, Marion
- Dieterich, Klaus
- Truitt Cho, Megan
- McWalter, Kirsty
- Hiatt, Susan
- Thompson, Michelle L
- Bézieau, Stéphane
- Wadley, Alexandrea
- Wierenga, Klaas J
- Egly, Jean-Marc
- Isidor, Bertrand
2019
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Cell reports (Cambridge), 2022-03, Vol.38 (11), p.110517-110517, Article 110517
- Marcogliese, Paul C.
- Deal, Samantha L.
- Andrews, Jonathan
- Harnish, J. Michael
- Bhavana, V. Hemanjani
- Graves, Hillary K.
- Jangam, Sharayu
- Luo, Xi
- Liu, Ning
- Bei, Danqing
- Chao, Yu-Hsin
- Hull, Brooke
- Lee, Pei-Tseng
- Pan, Hongling
- Bhadane, Pradnya
- Huang, Mei-Chu
- Longley, Colleen M.
- Chao, Hsiao-Tuan
- Chung, Hyung-lok
- Haelterman, Nele A.
- Kanca, Oguz
- Manivannan, Sathiya N.
- Rossetti, Linda Z.
- German, Ryan J.
- Gerard, Amanda
- Schwaibold, Eva Maria Christina
- Fehr, Sarah
- Guerrini, Renzo
- Vetro, Annalisa
- England, Eleina
- Murali, Chaya N.
- Barakat, Tahsin Stefan
- van Dooren, Marieke F.
- Wilke, Martina
- van Slegtenhorst, Marjon
- Lesca, Gaetan
- Sabatier, Isabelle
- Chatron, Nicolas
- Brownstein, Catherine A.
- Madden, Jill A.
- Agrawal, Pankaj B.
- Keren, Boris
- Courtin, Thomas
- Perrin, Laurence
- Brugger, Melanie
- Roser, Timo
- Leiz, Steffen
- Mau-Them, Frederic Tran
- Delanne, Julian
- Sukarova-Angelovska, Elena
- Trajkova, Slavica
- Rosenhahn, Erik
- Strehlow, Vincent
- Platzer, Konrad
- Keller, Roberto
- Pavinato, Lisa
- Brusco, Alfredo
- Rosenfeld, Jill A.
- Marom, Ronit
- Wangler, Michael F.
- Yamamoto, Shinya
2022
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American journal of human genetics, 2018-07, Vol.103 (1), p.154-162
- Tokita, Mari J.
- Chen, Chun-An
- Chitayat, David
- Macnamara, Ellen
- Rosenfeld, Jill A.
- Hanchard, Neil
- Lewis, Andrea M.
- Brown, Chester W.
- Marom, Ronit
- Shao, Yunru
- Novacic, Danica
- Wolfe, Lynne
- Wahl, Colleen
- Tifft, Cynthia J.
- Toro, Camilo
- Bernstein, Jonathan A.
- Hale, Caitlin L.
- Silver, Julia
- Hudgins, Louanne
- Ananth, Amitha
- Hanson-Kahn, Andrea
- Shuster, Shirley
- Magoulas, Pilar L.
- Patel, Vipulkumar N.
- Zhu, Wenmiao
- Chen, Stella M.
- Jiang, Yanjun
- Liu, Pengfei
- Eng, Christine M.
- Batkovskyte, Dominyka
- di Ronza, Alberto
- Sardiello, Marco
- Lee, Brendan H.
- Schaaf, Christian P.
- Yang, Yaping
- Wang, Xia
2018
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S86
2021
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