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Genetics in medicine, 2020-09, Vol.22 (9), p.1498-1506
- Calpena, Eduardo
- Cuellar, Araceli
- Bala, Krithi
- Swagemakers, Sigrid M A
- Koelling, Nils
- McGowan, Simon J
- Phipps, Julie M
- Balasubramanian, Meena
- Cunningham, Michael L
- Douzgou, Sofia
- Lattanzi, Wanda
- Morton, Jenny E V
- Shears, Deborah
- Weber, Astrid
- Wilson, Louise C
- Lord, Helen
- Lester, Tracy
- Johnson, David
- Wall, Steven A
- Twigg, Stephen R F
- Mathijssen, Irene M J
- Boardman-Pretty, Freya
- Boyadjiev, Simeon A
- Wilkie, Andrew O M
2020
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Nature communications, 2020-04, Vol.11 (1), p.1740-1740, Article 1740
2020
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The European respiratory journal, 2022-11, Vol.60 (5), p.2200176
- Shoemark, Amelia
- Griffin, Helen
- Wheway, Gabrielle
- Hogg, Claire
- Lucas, Jane S
- Camps, Carme
- Taylor, Jenny
- Carroll, Mary
- Loebinger, Michael R
- Chalmers, James D
- Morris-Rosendahl, Deborah
- Mitchison, Hannah M
- De Soyza, Anthony
- Brown, D
- Ambrose, J C
- Arumugam, P
- Bevers, R
- Bleda, M
- Boardman-Pretty, F
- Boustred, C R
- Brittain, H
- Caulfield, M J
- Chan, G C
- Fowler, T
- Giess, A
- Hamblin, A
- Henderson, S
- Hubbard, T J P
- Jackson, R
- Jones, L J
- Kasperaviciute, D
- Kayikci, M
- Kousathanas, A
- Lahnstein, L
- Leigh, S E A
- Leong, I U S
- Lopez, F J
- Maleady-Crowe, F
- McEntagart, M
- Minneci, F
- Moutsianas, L
- Mueller, M
- Murugaesu, N
- Need, A C
- O'Donovan, P
- Odhams, C A
- Patch, C
- Perez-Gil, D
- Pereira, M B
- Pullinger, J
- Rahim, T
- Rendon, A
- Rogers, T
- Savage, K
- Sawant, K
- Scott, R H
- Siddiq, A
- Sieghart, A
- Smith, S C
- Sosinsky, A
- Stuckey, A
- Tanguy, M
- Taylor Tavares, A L
- Thomas, E R A
- Thompson, S R
- Tucci, A
- Welland, M J
- Williams, E
- Witkowska, K
- Wood, S M
2022
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British journal of cancer, 2022-07, Vol.127 (1), p.137-144
2022
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Human genetics, 2023-03, Vol.142 (3), p.351-362
2023
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European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.265-270
2022
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European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1439-1443
2022
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Scientific reports, 2023-06, Vol.13 (1), p.9369-9369, Article 9369
2023
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Genome medicine, 2023-07, Vol.15 (1), p.47-47, Article 47
2023
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Scientific reports, 2022-07, Vol.12 (1), p.11257-11257, Article 11257
2022
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Nature communications, 2020-07, Vol.11 (1), p.3741-3741, Article 3741
2020
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BMC nephrology, 2023-08, Vol.24 (1), p.1-256, Article 256
- Hayward, S
- Norton, J
- Bownass, L
- Platt, C
- Ambrose, J. C
- Arumugam, P
- Bevers, R
- Bleda, M
- Boardman-Pretty, F
- Boustred, C. R
- Brittain, H
- Brown, M. A
- Caulfield, M. J
- Chan, G. C
- Giess, A
- Griffin, J. N
- Hamblin, A
- Henderson, S
- Hubbard, T. J. P
- Jackson, R
- Jones, L. J
- Kasperaviciute, D
- Kayikci, M
- Kousathanas, A
- Lahnstein, L
- Lakey, A
- Leigh, S. E. A
- Leong, I. U. S
- Lopez, F. J
- Maleady-Crowe, F
- McEntagart, M
- Minneci, F
- Mitchell, J
- Moutsianas, L
- Mueller, M
- Murugaesu, N
- Need, A. C
- O'Donovan, P
- Odhams, C. A
- Patch, C
- Perez-Gil, D
- Pereira, M. B
- Pullinger, J
- Rahim, T
- Rendon, A
- Rogers, T
- Savage, K
- Sawant, K
- Scott, R. H
- Siddiq, A
- Sieghart, A
- Smith, S. C
- Sosinsky, A
- Stuckey, A
- Tanguy, M
- Taylor Tavares, A. L
- Thomas, E. R. A
- Thompson, S. R
- Tucci, A
- Welland, M. J
- Williams, E
- Witkowska, K
- Wood, S. M
- Zarowiecki, M
2023
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BMC research notes, 2021-10, Vol.14 (1), p.385-385, Article 385
2021
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Nature (London), 2020-04, Vol.580 (7802), p.269-273
- Pleguezuelos-Manzano, Cayetano
- Puschhof, Jens
- Rosendahl Huber, Axel
- van Hoeck, Arne
- Wood, Henry M
- Nomburg, Jason
- Gurjao, Carino
- Manders, Freek
- Dalmasso, Guillaume
- Stege, Paul B
- Paganelli, Fernanda L
- Geurts, Maarten H
- Beumer, Joep
- Mizutani, Tomohiro
- Miao, Yi
- van der Linden, Reinier
- van der Elst, Stefan
- Garcia, K Christopher
- Top, Janetta
- Willems, Rob J L
- Giannakis, Marios
- Bonnet, Richard
- Quirke, Phil
- Meyerson, Matthew
- Cuppen, Edwin
- van Boxtel, Ruben
- Clevers, Hans
2020
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Science advances, 2023-04, Vol.9 (17), p.eade2675-eade2675
- Choi, Dong-Joo
- Armstrong, Georgina
- Lozzi, Brittney
- Vijayaraghavan, Prashanth
- Plon, Sharon E
- Wong, Terence C
- Boerwinkle, Eric
- Muzny, Donna M
- Chen, Hsiao-Chi
- Gibbs, Richard A
- Ostrom, Quinn T
- Melin, Beatrice
- Deneen, Benjamin
- Bondy, Melissa L
- Bainbridge, Matthew N
- Amos, Christopher I
- Barnholtz-Sloan, Jill S
- Bernstein, Jonine L
- Claus, Elizabeth B
- Houlston, Richard S
- Il'yasova, Dora
- Jenkins, Robert B
- Johansen, Christoffer
- Lachance, Daniel
- Lai, Rose
- Melin, Beatrice S
- Merrell, Ryan T
- Olson, Sara H
- Sadetzki, Siegal
- Schildkraut, Joellen
- Shete, Sanjay
- Ambrose, J C
- Arumugam, P
- Bevers, R
- Bleda, M
- Boardman-Pretty, F
- Boustred, C R
- Brittain, H
- Brown, M A
- Caulfield, M J
- Chan, G C
- Giess, A
- Griffin, J N
- Hamblin, A
- Henderson, S
- Hubbard, T J P
- Jackson, R
- Jones, L J
- Kasperaviciute, D
- Kayikci, M
- Kousathanas, A
- Lahnstein, L
- Lakey, A
- Leigh, S E A
- Leong, I U S
- Lopez, F J
- Maleady-Crowe, F
- McEntagart, M
- Minneci, F
- Mitchell, J
- Moutsianas, L
- Mueller, M
- Murugaesu, N
- Need, A C
- O'Donovan, P
- Odhams, C A
- Patch, C
- Perez-Gil, D
- Pereira, M B
- Pullinger, J
- Rahim, T
- Rendon, A
- Rogers, T
- Savage, K
- Sawant, K
- Scott, R H
- Siddiq, A
- Sieghart, A
- Smith, S C
- Sosinsky, A
- Stuckey, A
- Tanguy, M
- Taylor Tavares, A L
- Thomas, E R A
- Thompson, S R
- Tucci, A
- Welland, M J
- Williams, E
- Witkowska, K
- Wood, S M
- Zarowiecki, M
2023
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Epilepsia open, 2021-12, Vol.6 (4), p.770-776
- Silvennoinen, Katri
- Puvirajasinghe, Clinda
- Hudgell, Kirsty
- Sidhu, Meneka K.
- Martins Custodio, Helena
- Jones, Wendy D.
- Balestrini, Simona
- Sisodiya, Sanjay M.
- Ambrose, J. C.
- Arumugam, P.
- Baple, E. L.
- Bleda, M.
- Boardman‐Pretty, F.
- Boissiere, J. M.
- Boustred, C. R.
- Caulfield, M. J.
- Chan, G. C.
- Craig, C. E. H.
- Daugherty, L. C.
- de Burca, A.
- Devereau, A.
- Elgar, G.
- Foulger, R. E.
- Fowler, T.
- Furió‐Tarí, P.
- Hackett, J. M.
- Halai, D.
- Hamblin, A.
- Henderson, S.
- Holman, J. E.
- Hubbard, T. J. P.
- Ibáñez, K.
- Jackson, R.
- Jones, L. J.
- Kasperaviciute, D.
- Kayikci, M.
- Lahnstein, L.
- Lawson, K.
- Leigh, S. E. A.
- Leong, I. U. S.
- Lopez, F. J.
- Maleady‐Crowe, F.
- Mason, J.
- McDonagh, E. M.
- Moutsianas, L.
- Mueller, M.
- Murugaesu, N.
- Need, A. C.
- Odhams, C. A.
- Patch, C.
- Perez‐Gil, D.
- Polychronopoulos, D.
- Pullinger, J.
- Rahim, T.
- Rendon, A.
- Riesgo‐Ferreiro, P.
- Rogers, T.
- Ryten, M.
- Savage, K.
- Sawant, K.
- Scott, R. H.
- Siddiq, A.
- Sieghart, A.
- Smedley, D.
- Smith, K. R.
- Sosinsky, A.
- Spooner, W.
- Stevens, H. E.
- Stuckey, A.
- Sultana, R.
- Thomas, E. R. A.
- Thompson, S. R.
- Tucci, A.
- Walsh, E.
- Watters, S. A.
- Welland, M. J.
- Williams, E.
- Witkowska, K.
2021
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Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6591)
- Degasperi, Andrea
- Zou, Xueqing
- Amarante, Tauanne Dias
- Martinez-Martinez, Andrea
- Koh, Gene Ching Chiek
- Dias, João M L
- Heskin, Laura
- Chmelova, Lucia
- Rinaldi, Giuseppe
- Wang, Valerie Ya Wen
- Nanda, Arjun S
- Bernstein, Aaron
- Momen, Sophie E
- Young, Jamie
- Perez-Gil, Daniel
- Memari, Yasin
- Badja, Cherif
- Shooter, Scott
- Czarnecki, Jan
- Brown, Matthew A
- Davies, Helen R
- Nik-Zainal, Serena
2022
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BMJ (Online), 2021-11, Vol.375, p.e066288
- Schon, Katherine R
- Horvath, Rita
- Wei, Wei
- Calabrese, Claudia
- Tucci, Arianna
- Ibañez, Kristina
- Ratnaike, Thiloka
- Pitceathly, Robert D S
- Bugiardini, Enrico
- Quinlivan, Rosaline
- Hanna, Michael G
- Clement, Emma
- Ashton, Emma
- Sayer, John A
- Brennan, Paul
- Josifova, Dragana
- Izatt, Louise
- Fratter, Carl
- Nesbitt, Victoria
- Barrett, Timothy
- McMullen, Dominic J
- Smith, Audrey
- Deshpande, Charulata
- Smithson, Sarah F
- Festenstein, Richard
- Canham, Natalie
- Caulfield, Mark
- Houlden, Henry
- Rahman, Shamima
- Chinnery, Patrick F
2021
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Nature genetics, 2022-11, Vol.54 (11), p.1675-1689
- Robbe, Pauline
- Ridout, Kate E
- Vavoulis, Dimitrios V
- Dréau, Helene
- Kinnersley, Ben
- Denny, Nicholas
- Chubb, Daniel
- Appleby, Niamh
- Cutts, Anthony
- Cornish, Alex J
- Lopez-Pascua, Laura
- Clifford, Ruth
- Burns, Adam
- Stamatopoulos, Basile
- Cabes, Maite
- Alsolami, Reem
- Antoniou, Pavlos
- Oates, Melanie
- Cavalieri, Doriane
- Gibson, Jane
- Prabhu, Anika V
- Schwessinger, Ron
- Jennings, Daisy
- James, Terena
- Maheswari, Uma
- Duran-Ferrer, Martí
- Carninci, Piero
- Knight, Samantha J L
- Månsson, Robert
- Hughes, Jim
- Davies, James
- Ross, Mark
- Bentley, David
- Strefford, Jonathan C
- Devereux, Stephen
- Pettitt, Andrew R
- Hillmen, Peter
- Caulfield, Mark J
- Houlston, Richard S
- Martín-Subero, José I
- Schuh, Anna
2022
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Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5060-5069
- Dominik, Natalia
- Magri, Stefania
- Currò, Riccardo
- Abati, Elena
- Facchini, Stefano
- Corbetta, Marinella
- Macpherson, Hannah
- Di Bella, Daniela
- Sarto, Elisa
- Stevanovski, Igor
- Chintalaphani, Sanjog R
- Akcimen, Fulya
- Manini, Arianna
- Vegezzi, Elisa
- Quartesan, Ilaria
- Montgomery, Kylie-Ann
- Pirota, Valentina
- Crespan, Emmanuele
- Perini, Cecilia
- Grupelli, Glenda Paola
- Tomaselli, Pedro J
- Marques, Wilson
- Shaw, Joseph
- Polke, James
- Salsano, Ettore
- Fenu, Silvia
- Pareyson, Davide
- Pisciotta, Chiara
- Tofaris, George K
- Nemeth, Andrea H
- Ealing, John
- Radunovic, Aleksandar
- Kearney, Seamus
- Kumar, Kishore R
- Vucic, Steve
- Kennerson, Marina
- Reilly, Mary M
- Houlden, Henry
- Deveson, Ira
- Tucci, Arianna
- Taroni, Franco
- Cortese, Andrea
2023
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Nature communications, 2020-01, Vol.11 (1), p.655-16, Article 655
- Cacheiro, Pilar
- Muñoz-Fuentes, Violeta
- Murray, Stephen A
- Dickinson, Mary E
- Bucan, Maja
- Nutter, Lauryl M J
- Peterson, Kevin A
- Haselimashhadi, Hamed
- Flenniken, Ann M
- Morgan, Hugh
- Westerberg, Henrik
- Konopka, Tomasz
- Hsu, Chih-Wei
- Christiansen, Audrey
- Lanza, Denise G
- Beaudet, Arthur L
- Heaney, Jason D
- Fuchs, Helmut
- Gailus-Durner, Valerie
- Sorg, Tania
- Prochazka, Jan
- Novosadova, Vendula
- Lelliott, Christopher J
- Wardle-Jones, Hannah
- Wells, Sara
- Teboul, Lydia
- Cater, Heather
- Stewart, Michelle
- Hough, Tertius
- Wurst, Wolfgang
- Sedlacek, Radislav
- Adams, David J
- Seavitt, John R
- Tocchini-Valentini, Glauco
- Mammano, Fabio
- Braun, Robert E
- McKerlie, Colin
- Herault, Yann
- de Angelis, Martin Hrabě
- Mallon, Ann-Marie
- Lloyd, K C Kent
- Brown, Steve D M
- Parkinson, Helen
- Meehan, Terrence F
- Smedley, Damian
2020
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Genetics in medicine, 2020-12, Vol.22 (12), p.2041-2051
- Vig, Anjali
- Poulter, James A
- Ottaviani, Daniele
- Tavares, Erika
- Toropova, Katerina
- Tracewska, Anna Maria
- Mollica, Antonio
- Kang, Jasmine
- Kehelwathugoda, Oshini
- Paton, Tara
- Maynes, Jason T
- Wheway, Gabrielle
- Arno, Gavin
- Khan, Kamron N
- McKibbin, Martin
- Toomes, Carmel
- Ali, Manir
- Di Scipio, Matteo
- Li, Shuning
- Ellingford, Jamie
- Black, Graeme
- Webster, Andrew
- Rydzanicz, Małgorzata
- Stawiński, Piotr
- Płoski, Rafał
- Vincent, Ajoy
- Cheetham, Michael E
- Inglehearn, Chris F
- Roberts, Anthony
- Heon, Elise
2020
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Journal of medical genetics, 2023-05, Vol.60 (5), p.505
2023
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Journal of medical genetics, 2022-12, Vol.59 (12), p.1151
2022
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Annals of neurology, 2022-01, Vol.91 (1), p.101-116
2022
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