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2023
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Genetics in medicine, 2019-12, Vol.21 (12), p.2823-2826
2019
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European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.577-586
2022
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Genetics in medicine, 2020-07, Vol.22 (7), p.1254-1261
- Riley, Lisa G.
- Cowley, Mark J.
- Gayevskiy, Velimir
- Minoche, Andre E.
- Puttick, Clare
- Thorburn, David R.
- Rius, Rocio
- Compton, Alison G.
- Menezes, Minal J.
- Bhattacharya, Kaustuv
- Coman, David
- Ellaway, Carolyn
- Alexander, Ian E.
- Adams, Louisa
- Kava, Maina
- Robinson, Jacqui
- Sue, Carolyn M.
- Balasubramaniam, Shanti
- Christodoulou, John
2020
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Human genetics, 2020-10, Vol.139 (10), p.1325-1343
- Tucker, Elena J.
- Rius, Rocio
- Jaillard, Sylvie
- Bell, Katrina
- Lamont, Phillipa J.
- Travessa, André
- Dupont, Juliette
- Sampaio, Lurdes
- Dulon, Jérôme
- Vuillaumier-Barrot, Sandrine
- Whalen, Sandra
- Isapof, Arnaud
- Stojkovic, Tanya
- Quijano-Roy, Susana
- Robevska, Gorjana
- van den Bergen, Jocelyn
- Hanna, Chloe
- Simpson, Andrea
- Ayers, Katie
- Thorburn, David R.
- Christodoulou, John
- Touraine, Philippe
- Sinclair, Andrew H.
2020
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HGG advances, 2022-01, Vol.3 (1), p.100075-100075, Article 100075
- Levy, Michael A.
- McConkey, Haley
- Kerkhof, Jennifer
- Barat-Houari, Mouna
- Bargiacchi, Sara
- Biamino, Elisa
- Bralo, María Palomares
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Fletcher, Robin S.
- Cherik, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Østergaard, Elsebet
- Pallares, Nathalie Ruiz
- Piccione, Maria
- Pizzi, Simone
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Relator, Raissa
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W.E.
- Santos-Simarro, Fernando
- Schijns, Josephine
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- St John, Miya
- Thauvin-Robinet, Christel
- Traficante, Giovanna
- van der Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M.A.M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
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- Campeau, Philippe M.
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Kerrnohan, Kristin D.
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- Tedder, Matthew L.
- Sadikovic, Bekim
2022
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Med (New York, N.Y. : Online), 2021-01, Vol.2 (1), p.49-73.e10
- Frazier, Ann E.
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- Kishita, Yoshihito
- Hock, Daniella H.
- Welch, AnneMarie E.
- Amarasekera, Sumudu S.C.
- Rius, Rocio
- Formosa, Luke E.
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- Wang, Min
- Lake, Nicole J.
- Tregoning, Simone
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- Nitta, Kazuhiro R.
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- Amor, David J.
- McGillivray, George
- Wong, Flora Y.
- van der Knaap, Marjo S.
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- Minoche, André E.
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- Simons, Cas
- Christodoulou, John
- Thorburn, David R.
2021
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JIMD reports, 2022-05, Vol.63 (3), p.240-249
- Akesson, Lauren S.
- Rius, Rocio
- Brown, Natasha J.
- Rosenbaum, Jeremy
- Donoghue, Sarah
- Stormon, Michael
- Chai, Charmaine
- Bordador, Esmeralda
- Guo, Yiran
- Hakonarson, Hakon
- Compton, Alison G.
- Thorburn, David R.
- Amarasekera, Sumudu
- Marum, Justine
- Monaco, Alisha
- Lee, Crystle
- Chong, Belinda
- Lunke, Sebastian
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- Christodoulou, John
2022
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Nephrology (Carlton, Vic.), 2022-07, Vol.27 (7), p.640-641
2022
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Human genetics, 2020-10, Vol.139 (10), p.1325
2020
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Human mutation, 2022-11, Vol.43 (11), p.1609-1628
- Levy, Michael A.
- Relator, Raissa
- McConkey, Haley
- Pranckeviciene, Erinija
- Kerkhof, Jennifer
- Barat‐Houari, Mouna
- Bargiacchi, Sara
- Biamino, Elisa
- Palomares Bralo, María
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Ferilli, Marco
- Fletcher, Robin S.
- Cherick, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Østergaard, Elsebet
- Pallares, Nathalie R.
- Piccione, Maria
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W. E.
- Santos‐Simarro, Fernando
- Schijns, Josephine
- Squeo, Gabriella M.
- John, Miya St
- Thauvin‐Robinet, Christel
- Traficante, Giovanna
- Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce B.
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M. A. M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
- Brunetti‐Pierri, Nicola
- Campeau, Philippe M.
- Campion, Dominique
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Heron, Delphine
- Husson, Thomas
- Kernohan, Kristin D.
- McNeill, Alisdair
- Menke, Leonie A.
- Merla, Giuseppe
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- Rockman‐Greenberg, Cheryl
- Schwartz, Charles
- Skinner, Steven A.
- Stevenson, Roger E.
- Vincent, Marie
- Vitobello, Antonio
- Tartaglia, Marco
- Alders, Marielle
- Tedder, Matthew L.
- Sadikovic, Bekim
2022
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Human mutation, 2022-12, Vol.43 (12), p.1970-1978
2022
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American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1225-1231
2018
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Nature communications, 2023-02, Vol.14 (1), p.1009-1009, Article 1009
- Van Haute, Lindsey
- O’Connor, Emily
- Díaz-Maldonado, Héctor
- Munro, Benjamin
- Polavarapu, Kiran
- Hock, Daniella H.
- Arunachal, Gautham
- Athanasiou-Fragkouli, Alkyoni
- Bardhan, Mainak
- Barth, Magalie
- Bonneau, Dominique
- Brunetti-Pierri, Nicola
- Cappuccio, Gerarda
- Caruana, Nikeisha J.
- Dominik, Natalia
- Goel, Himanshu
- Helman, Guy
- Houlden, Henry
- Lenaers, Guy
- Mention, Karine
- Murphy, David
- Nandeesh, Bevinahalli
- Olimpio, Catarina
- Powell, Christopher A.
- Preethish-Kumar, Veeramani
- Procaccio, Vincent
- Rius, Rocio
- Rebelo-Guiomar, Pedro
- Simons, Cas
- Vengalil, Seena
- Zaki, Maha S.
- Ziegler, Alban
- Thorburn, David R.
- Stroud, David A.
- Maroofian, Reza
- Christodoulou, John
- Gustafsson, Claes
- Nalini, Atchayaram
- Lochmüller, Hanns
- Minczuk, Michal
- Horvath, Rita
2023
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Nature (London), 2024-08, Vol.632 (8026), p.832-840
- Chen, Yuyang
- Kim, Hyung Chul
- Ljungdahl, Alicia
- Stenton, Sarah L.
- Lord, Jenny
- Lemire, Gabrielle
- Martin-Geary, Alexandra C.
- Ganesh, Vijay S.
- Ma, Jialan
- Ellingford, Jamie M.
- Delage, Erwan
- D’Souza, Elston N.
- Dong, Shan
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- Allan, Kirsten
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- Baldwin, Erin E.
- Berger, Seth I.
- Brown, Natasha J.
- Burrage, Lindsay C.
- Chapman, Kimberly
- Coman, David J.
- Compton, Alison G.
- Cunningham, Chloe A.
- D’Souza, Precilla
- Danecek, Petr
- Délot, Emmanuèle C.
- Dias, Kerith-Rae
- Elias, Ellen R.
- Elmslie, Frances
- Evans, Care-Anne
- Ezell, Kimberly
- Fraser, Jamie L.
- Gallacher, Lyndon
- Genetti, Casie A.
- Grant, Christina L.
- Haack, Tobias
- Higgs, Jenny E.
- Hinch, Anjali G.
- Hurles, Matthew E.
- Kuechler, Alma
- Lecoquierre, François
- Fevre, Anna Le
- Leventer, Richard J.
- Liebelt, Jan E.
- Lindsay, Sarah
- Lockhart, Paul J.
- Ma, Alan S.
- Macnamara, Ellen F.
- Mendez, Hector R.
- Metcalfe, Kay
- Montgomery, Stephen B.
- Moosajee, Mariya
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- O’Donoghue, Michael
- O’Leary, Melanie
- Palmer, Elizabeth E.
- Pattani, Nikhil
- Pitsava, Georgia
- Pysar, Ryan
- Rehm, Heidi L.
- Reuter, Chloe M.
- Revencu, Nicole
- Riess, Angelika
- Rodan, Lance
- Roscioli, Tony
- Rosenfeld, Jill A.
- Sachdev, Rani
- Shaw-Smith, Charles J.
- Simons, Cas
- Sisodiya, Sanjay M.
- Snell, Penny
- St Clair, Laura
- Stewart, Helen S.
- Tan, Natalie B.
- Temple, Suzanna E. L.
- Thorburn, David R.
- Tifft, Cynthia J.
- VanNoy, Grace E.
- Vilain, Eric
- Viskochil, David H.
- Wedd, Laura
- Wheeler, Matthew T.
- White, Susan M.
- Wojcik, Monica
- Wolfe, Lynne A.
- Wolfenson, Zoe
- Wright, Caroline F.
- Xiao, Changrui
- Zocche, David
- Rubenstein, John L.
- Markenscoff-Papadimitriou, Eirene
- Fica, Sebastian M.
- Baralle, Diana
- Depienne, Christel
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- Sanders, Stephan J.
- O’Donnell-Luria, Anne
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2024
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Neurology India, 2018-07, Vol.66 (4), p.1162-1165
2018
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- Rius, Rocio
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- Balasubramaniam, Shanti
- Best, Stephanie
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- Boggs, Kirsten
- Boughtwood, Tiffany
- Braithwaite, Jeffrey
- Bratkovic, Drago
- Bray, Alessandra
- Brion, Marie-Jo
- Burke, Jo
- Casauria, Sarah
- Chong, Belinda
- Coman, David
- Cowie, Shannon
- Cowley, Mark
- de Silva, Michelle G.
- Delatycki, Martin B.
- Edwards, Samantha
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- Fahey, Michael C.
- Finlay, Keri
- Fletcher, Janice
- Frajman, Leah E.
- Frazier, Ann E.
- Gayevskiy, Velimir
- Ghaoui, Roula
- Goel, Himanshu
- Goranitis, Ilias
- Haas, Matilda
- Hock, Daniella H.
- Howting, Denise
- Jackson, Matilda R.
- Kava, Maina P.
- Kemp, Madonna
- King-Smith, Sarah
- Lake, Nicole J.
- Lamont, Phillipa J.
- Lee, Joy
- Long, Janet C.
- MacShane, Mandi
- Madelli, Evanthia O.
- Martin, Ellenore M.
- Marum, Justine E.
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- McGill, Jim
- Metke, Alejandro
- Murray, Sean
- Panetta, Julie
- Phillips, Liza K.
- Quinn, Michael C.J.
- Ryan, Michael T.
- Schenscher, Sarah
- Simons, Cas
- Smith, Nicholas
- Stroud, David A.
- Tchan, Michel C.
- Tom, Melanie
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- Ware, Tyson L.
- Welch, AnneMarie E.
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- Wu, You
- Christodoulou, John
- Thorburn, David R.
2024
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Molecular genetics and metabolism, 2019-01, Vol.126 (1), p.77-82
2019
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Internal medicine journal, 2022-01, Vol.52 (1), p.110-120
- Sue, Carolyn M.
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- Bonifant, Catherine
- Christodoulou, John
- Coman, David
- Crawley, Karen
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- Ellaway, Carolyn
- Ghaoui, Roula
- Kava, Maina
- Kearns, Lisa S.
- Lee, Joy
- Liang, Christina
- Mackey, David A.
- Murray, Sean
- Needham, Merrilee
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- Russell, Jacqui
- Smith, Nicholas J.C.
- Thyagarajan, Dominic
- Wools, Christine
2022
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Genes, 2021-04, Vol.12 (4), p.607
2021
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Orphanet journal of rare diseases, 2016-07, Vol.11 (1), p.102, Article 102
2016
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Journal of clinical medicine, 2019-11, Vol.8 (11), p.2020
2019
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Annals of clinical and translational neurology, 2019-03, Vol.6 (3), p.515-524
- Hayhurst, Hannah
- de Coo, Irenaeus F. M.
- Piekutowska‐Abramczuk, Dorota
- Alston, Charlotte L.
- Sharma, Sunil
- Thompson, Kyle
- Rius, Rocio
- He, Langping
- Hopton, Sila
- Ploski, Rafal
- Ciara, Elzbieta
- Lake, Nicole J.
- Compton, Alison G.
- Delatycki, Martin B.
- Verrips, Aad
- Bonnen, Penelope E.
- Jones, Simon A.
- Morris, Andrew A.
- Shakespeare, David
- Christodoulou, John
- Wesol‐Kucharska, Dorota
- Rokicki, Dariusz
- Smeets, Hubert J. M.
- Pronicka, Ewa
- Thorburn, David R.
- Gorman, Grainne S.
- McFarland, Robert
- Taylor, Robert W.
- Ng, Yi Shiau
2019
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Annals of clinical and translational neurology, 2019-04, Vol.6 (4), p.821-821
2019
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Nephrology (Carlton, Vic.), 2022, Vol.27 (7), p.640-641
2022
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