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Frontiers in physiology, 2021-05, Vol.12, p.660883-660883
2021
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Nature communications, 2017-05, Vol.8 (1), p.15171-15171, Article 15171
2017
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Angewandte Chemie (International ed.), 2019-10, Vol.58 (43), p.15263-15267
International ed. in English, 2019
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The Journal of biological chemistry, 2010-01, Vol.285 (4), p.2227-2231
2010
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Human mutation, 2022-05, Vol.43 (5), p.582-594
- Vegas, Nancy
- Demir, Zeynep
- Gordon, Christopher T.
- Breton, Sylvain
- Romanelli Tavares, Vanessa L.
- Moisset, Hugo
- Zechi‐Ceide, Roseli
- Kokitsu‐Nakata, Nancy M.
- Kido, Yasuhiro
- Marlin, Sandrine
- Gherbi Halem, Souad
- Meerschaut, Ilse
- Callewaert, Bert
- Chung, Brian
- Revencu, Nicole
- Lehalle, Daphné
- Petit, Florence
- Propst, Evan J.
- Papsin, Blake C.
- Phillips, John H.
- Jakobsen, Linda
- Le Tanno, Pauline
- Thévenon, Julien
- McGaughran, Julie
- Gerkes, Erica H.
- Leoni, Chiara
- Kroisel, Peter
- Tan, Tiong Y.
- Henderson, Alex
- Terhal, Paulien
- Basel‐Salmon, Lina
- Alkindy, Adila
- White, Susan M.
- Passos‐Bueno, Maria R.
- Pingault, Véronique
- De Pontual, Loïc
- Amiel, Jeanne
2022
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Genetics in medicine, 2021-12, Vol.23 (12), p.2443-2447
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William R
- Bacino, Carlos A
- Hoover-Fong, Julie
- Font, Rosendo Ullot
- Harmatz, Paul
- Rutsch, Frank
- Bober, Michael B
- Polgreen, Lynda E
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Alanay, Yasemin
- Arundel, Paul
- Kotani, Yumiko
- Yasui, Natsuo
- White, Klane K
- Saal, Howard M
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Basel, Donald
- Porco, Dania M
- Jayaram, Kala
- Fisheleva, Elena
- Huntsman-Labed, Alice
- Day, Jonathan R S
2021
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PLoS medicine, 2021-04, Vol.18 (4), p.e1003587-e1003587
- Polonsky, Jonathan A
- Ivey, Melissa
- Mazhar, Md Khadimul Anam
- Rahman, Ziaur
- le Polain de Waroux, Olivier
- Karo, Basel
- Jalava, Katri
- Vong, Sirenda
- Baidjoe, Amrish
- Diaz, Janet
- Finger, Flavio
- Habib, Zakir H
- Halder, Charls Erik
- Haskew, Christopher
- Kaiser, Laurent
- Khan, Ali S
- Sangal, Lucky
- Shirin, Tahmina
- Zaki, Quazi Ahmed
- Salam, Md Abdus
- White, Kate
- Spiegel, Paul
2021
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The Lancet (British edition), 2020-09, Vol.396 (10252), p.684-692
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William
- Bacino, Carlos A
- Hoover-Fong, Julie
- Ullot Font, Rosendo
- Harmatz, Paul
- Rutsch, Frank
- Bober, Michael B
- Polgreen, Lynda E
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Alanay, Yasemin
- Arundel, Paul
- Kagami, Shoji
- Yasui, Natsuo
- White, Klane K
- Saal, Howard M
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Basel, Donald
- Porco, Dania M
- Jayaram, Kala
- Fisheleva, Elena
- Huntsman-Labed, Alice
- Day, Jonathan
2020
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American journal of human genetics, 2024-03, Vol.111 (3), p.487-508
- Shepherdson, James L.
- Hutchison, Katie
- Don, Dilan Wellalage
- McGillivray, George
- Choi, Tae-Ik
- Allan, Carolyn A.
- Amor, David J.
- Banka, Siddharth
- Basel, Donald G.
- Buch, Laura D.
- Carere, Deanna Alexis
- Carroll, Renée
- Clayton-Smith, Jill
- Crawford, Ali
- Dunø, Morten
- Faivre, Laurence
- Gilfillan, Christopher P.
- Gold, Nina B.
- Gripp, Karen W.
- Hobson, Emma
- Holtz, Alexander M.
- Innes, A. Micheil
- Isidor, Bertrand
- Jackson, Adam
- Katsonis, Panagiotis
- Amel Riazat Kesh, Leila
- Küry, Sébastien
- Lecoquierre, François
- Lockhart, Paul
- Maraval, Julien
- Matsumoto, Naomichi
- McCarrier, Julie
- McCarthy, Josephine
- Miyake, Noriko
- Moey, Lip Hen
- Németh, Andrea H.
- Østergaard, Elsebet
- Patel, Rushina
- Pope, Kate
- Posey, Jennifer E.
- Schnur, Rhonda E.
- Shaw, Marie
- Stolerman, Elliot
- Taylor, Julie P.
- Wadman, Erin
- Wakeling, Emma
- White, Susan M.
- Wong, Lawrence C.
- Lupski, James R.
- Lichtarge, Olivier
- Corbett, Mark A.
- Gecz, Jozef
- Nicolet, Charles M.
- Farnham, Peggy J.
- Kim, Cheol-Hee
- Shinawi, Marwan
2024
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American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2113-2131
- Kaur, Maninder
- Blair, Justin
- Devkota, Batsal
- Fortunato, Sierra
- Clark, Dinah
- Lawrence, Audrey
- Kim, Jiwoo
- Do, Wonwook
- Semeo, Benjamin
- Katz, Olivia
- Mehta, Devanshi
- Yamamoto, Nobuko
- Schindler, Emma
- Al Rawi, Zayd
- Wallace, Nina
- Wilde, Jonathan J.
- McCallum, Jennifer
- Liu, Jinglan
- Xu, Dongbin
- Jackson, Marie
- Rentas, Stefan
- Tayoun, Ahmad Abou
- Zhe, Zhang
- Abdul‐Rahman, Omar
- Allen, Bill
- Angula, Moris A.
- Anyane‐Yeboa, Kwame
- Argente, Jesús
- Arn, Pamela H.
- Armstrong, Linlea
- Basel‐Salmon, Lina
- Baynam, Gareth
- Bird, Lynne M.
- Bruegger, Daniel
- Ch'ng, Gaik‐Siew
- Chitayat, David
- Clark, Robin
- Cox, Gerald F.
- Dave, Usha
- DeBaere, Elfrede
- Field, Michael
- Graham Jr, John M.
- Gripp, Karen W.
- Greenstein, Robert
- Gupta, Neerja
- Heidenreich, Randy
- Hoffman, Jodi
- Hopkin, Robert J.
- Jones, Kenneth L.
- Jones, Marilyn C.
- Kariminejad, Ariana
- Kogan, Jillene
- Lace, Baiba
- Leroy, Julian
- Lynch, Sally Ann
- McDonald, Marie
- Meagher, Kirsten
- Mendelsohn, Nancy
- Micule, Ieva
- Moeschler, John
- Nampoothiri, Sheela
- Ohashi, Kaoru
- Powell, Cynthia M.
- Ramanathan, Subhadra
- Raskin, Salmo
- Roeder, Elizabeth
- Rio, Marlene
- Rope, Alan F.
- Sangha, Karan
- Scheuerle, Angela E.
- Schneider, Adele
- Shalev, Stavit
- Siu, Victoria
- Smith, Rosemarie
- Stevens, Cathy
- Tkemaladze, Tinatin
- Toimie, John
- Toriello, Helga
- Turner, Anne
- Wheeler, Patricia G.
- White, Susan M.
- Young, Terri
- Loomes, Kathleen M.
- Pipan, Mary
- Harrington, Ann Tokay
- Zackai, Elaine
- Rajagopalan, Ramakrishnan
- Conlin, Laura
- Deardorff, Matthew A.
- McEldrew, Deborah
- Pie, Juan
- Ramos, Feliciano
- Musio, Antonio
- Kline, Antonie D.
- Izumi, Kosuke
- Raible, Sarah E.
- Krantz, Ian D.
2023
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Npj genomic medicine, 2020-12, Vol.5 (1), p.53-53, Article 53
- Jolly, Lachlan A
- Parnell, Euan
- Gardner, Alison E
- Corbett, Mark A
- Pérez-Jurado, Luis A
- Shaw, Marie
- Lesca, Gaetan
- Keegan, Catherine
- Schneider, Michael C
- Griffin, Emily
- Maier, Felicitas
- Kiss, Courtney
- Guerin, Andrea
- Crosby, Kathleen
- Rosenbaum, Kenneth
- Tanpaiboon, Pranoot
- Whalen, Sandra
- Keren, Boris
- McCarrier, Julie
- Basel, Donald
- Sadedin, Simon
- White, Susan M
- Delatycki, Martin B
- Kleefstra, Tjitske
- Küry, Sébastien
- Brusco, Alfredo
- Sukarova-Angelovska, Elena
- Trajkova, Slavica
- Yoon, Sehoun
- Wood, Stephen A
- Piper, Michael
- Penzes, Peter
- Gecz, Jozef
2020
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American journal of human genetics, 2020-04, Vol.106 (4), p.467-483
- Tan, Tiong Yang
- Sedmík, Jiří
- Fitzgerald, Mark P.
- Halevy, Rivka Sukenik
- Keegan, Liam P.
- Helbig, Ingo
- Basel-Salmon, Lina
- Cohen, Lior
- Straussberg, Rachel
- Chung, Wendy K.
- Helal, Mayada
- Maroofian, Reza
- Houlden, Henry
- Juusola, Jane
- Sadedin, Simon
- Pais, Lynn
- Howell, Katherine B.
- White, Susan M.
- Christodoulou, John
- O’Connell, Mary A.
2020
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American journal of human genetics, 2012-12, Vol.91 (6), p.998-1010
- Basel-Vanagaite, Lina
- Dallapiccola, Bruno
- Ramirez-Solis, Ramiro
- Segref, Alexandra
- Thiele, Holger
- Edwards, Andrew
- Arends, Mark J.
- Miró, Xavier
- White, Jacqueline K.
- Désir, Julie
- Abramowicz, Marc
- Dentici, Maria Lisa
- Lepri, Francesca
- Hofmann, Kay
- Har-Zahav, Adi
- Ryder, Edward
- Karp, Natasha A.
- Estabel, Jeanne
- Gerdin, Anna-Karin B.
- Podrini, Christine
- Ingham, Neil J.
- Altmüller, Janine
- Nürnberg, Gudrun
- Frommolt, Peter
- Abdelhak, Sonia
- Pasmanik-Chor, Metsada
- Konen, Osnat
- Kelley, Richard I.
- Shohat, Mordechai
- Nürnberg, Peter
- Flint, Jonathan
- Steel, Karen P.
- Hoppe, Thorsten
- Kubisch, Christian
- Adams, David J.
- Borck, Guntram
2012
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Angewandte Chemie, 2019-10, Vol.131 (43), p.15407-15411
2019
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Proceedings of the National Academy of Sciences - PNAS, 2008-06, Vol.105 (24), p.8250-8255
2008
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Genetics in medicine, 2022-12, Vol.24 (12), p.2444-2452
- Savarirayan, Ravi
- Irving, Melita
- Harmatz, Paul
- Delgado, Borja
- Wilcox, William R.
- Philips, John
- Owen, Natalie
- Bacino, Carlos A.
- Tofts, Louise
- Charrow, Joel
- Polgreen, Lynda E.
- Hoover-Fong, Julie
- Arundel, Paul
- Ginebreda, Ignacio
- Saal, Howard M.
- Basel, Donald
- Font, Rosendo Ullot
- Ozono, Keiichi
- Bober, Michael B.
- Cormier-Daire, Valerie
- Le Quan Sang, Kim-Hanh
- Baujat, Genevieve
- Alanay, Yasemin
- Rutsch, Frank
- Hoernschemeyer, Daniel
- Mohnike, Klaus
- Mochizuki, Hiroshi
- Tajima, Asako
- Kotani, Yumiko
- Weaver, David D.
- White, Klane K.
- Army, Clare
- Larrimore, Kevin
- Gregg, Keith
- Jeha, George
- Milligan, Claire
- Fisheleva, Elena
- Huntsman-Labed, Alice
- Day, Jonathan
2022
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Genetics in Medicine Open, 2024, Vol.2, p.101036, Article 101036
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William
- Bacino, Carlos
- Hoover-Fong, Julie
- Font, Rosendo Ullot
- Harmatz, Paul
- Rutsch, Frank
- Carroll, Ricki
- Polgreen, Lynda
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Prada, Carlos
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Kubota, Takuo
- Alanay, Yasemin
- Arundel, Paul
- Kotani, Yumiko
- Yasui, Natsuo
- White, Klane
- Brandstetter, Shelley
- Saal, Howard
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Tajima, Asako
- Basel, Donald
- Fisheleva, Elena
- Low, Andrea
- Lawrinson, Sue
- Day, Jonathan
2024
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Genetics in Medicine Open, 2024, Vol.2, p.101038, Article 101038
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William
- Bacino, Carlos
- Hoover-Fong, Julie
- Font, Rosendo Ullot
- Harmatz, Paul
- Rutsch, Frank
- Carroll, Ricki
- Polgreen, Lynda
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Prada, Carlos
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Kubota, Takuo
- Alanay, Yasemin
- Arundel, Paul
- Kotani, Yumiko
- Yasui, Natsuo
- White, Klane
- Brandstetter, Shelley
- Saal, Howard
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Tajima, Asako
- Basel, Donald
- Fisheleva, Elena
- Rowell, Richard
- Labed, Alice Huntsman
- Day, Jonathan
2024
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100222, Article 100222
- Hoover-Fong, Julie
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William
- Bacino, Carlos
- Font, Rosendo Ullot
- Harmatz, Paul
- Rutsch, Frank
- Bober, Michael
- Polgreen, Lynda
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Alanay, Yasemin
- Arundel, Paul
- Kagami, Shoji
- Yasui, Natsuo
- White, Klane
- Saal, Howard
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Basel, Donald
- Porco, Dania
- Jayaram, Kala
- Fisheleva, Elena
- Lawrinson, Sue
- Day, Jonathan
2023
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Bioorganic & medicinal chemistry, 2010-06, Vol.18 (11), p.4119-4137
2010
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Journal of medicinal chemistry, 2010-10, Vol.53 (20), p.7461-7465
2010
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Journal of medicinal chemistry, 2010-10, Vol.53 (20), p.7461-7465
2010
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The Journal of heart valve disease, 2013-01, Vol.22 (1), p.126
2013
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Journal of the Endocrine Society, 2021-05, Vol.5 (Supplement_1), p.A670-A671
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William
- Bacino, Carlos A
- Hoover-Fong, Julie
- Font, Rosendo Ullot
- Harmatz, Paul
- Rutsch, Frank
- Bober, Michael B
- Polgreen, Lynda
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Alanay, Yasemin
- Arundel, Paul
- Kagami, Shoji
- Yasui, Natsuo
- White, Klane
- Saal, Howard
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Basel, Donald
- Porco, Dania
- Jayaram, Kala
- Fisheleva, Elena
- Han, Lynn
- Day, Jonathan
2021
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