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The New England journal of medicine, 2021-11, Vol.385 (20), p.1868-1880
- Martin, Antonio
- Arno, Gavin
- Tucci, Arianna
- Chan, Georgia
- Williams, Hywel J
- Stirrups, Kathleen
- Ibanez, Kristina
- Moutsianas, Loukas
- Vestito, Letizia
- Wordsworth, Sarah
- Ashford, Sofie
- Spasic-Boskovic, Olivera
- Gurnell, Mark
- Burrows, Nigel
- Dewhurst, Eleanor
- Gräf, Stefan
- Mapeta, Rutendo
- Haworth, Andrea
- Savage, Helen
- Reese, Martin G
- Baple, Emma
- Boustred, Christopher
- de Burca, Anna
- Kasperaviciute, Dalia
- Polychronopoulos, Dimitris
- Matchan, Angela
- Tavares, Ana L T
- Turnbull, Clare
- Leigh, Sarah
- Leong, Ivone U S
- Wright, Caroline F
- Davies, Jim
- Crichton, Charles
- Welch, James
- Abulhoul, Lara
- Aurora, Paul
- Cleary, Maureen A
- Footitt, Emma
- Ganesan, Vijeya
- Compeyrot-Lacassagne, Sandrine
- Pilkington, Clarissa
- Thapar, Nikhil
- Worth, Austen
- Compton, Cecilia
- Fassihi, Hiva
- Haque, Eshika
- Izatt, Louise
- Rose, Sarah
- Shaw, Adam C
- Wolejko, Agata
- Burns, Gavin
- Hunter, Sarah
- Grocock, Russell J
- Humphray, Sean J
- Robinson, Peter N
- Haendel, Melissa
- Simpson, Michael A
- Clayton-Smith, Jill
- Douzgou, Sofia
- Hall, Georgina
- O'Keefe, Raymond T
- Michaelides, Michel
- Pontikos, Nikolas
- Straub, Volker
- Gorman, Gráinne S
- Schaefer, Andrew M
- Yu-Wai-Man, Patrick
- McFarland, Robert
- Taylor, Robert W
- O'Connor, Emer
- Morris, Huw R
- Wood, Nicholas W
- Campbell, Carolyn
- Camps, Carme
- Koelling, Nils
- Palles, Claire
- Patel, Smita
- Sen, Arjune
- Taylor, John
- Cacheiro, Pilar
- Jacobsen, Julius O
- Seaby, Eleanor G
- Ellard, Sian
- Wilson, Gill
- Beales, Phil
- Black, Graeme
- Burn, John
- Chinnery, Patrick F
- Newman, William
- Rahman, Shamima
- Taylor, Jenny C
- Webster, Andrew R
- Wilkie, Andrew O M
- Ouwehand, Willem H
- Raymond, F Lucy
- Chisholm, John
- Hill, Sue
- Bentley, David
- Rendon, Augusto
- Caulfield, Mark
2021
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Science advances, 2023-04, Vol.9 (17), p.eade0631-eade0631
- Patterson, Victoria
- Ullah, Farid
- Bryant, Laura
- Griffin, John N
- Sidhu, Alpa
- Saliganan, Sheila
- Blaile, Mackenzie
- Saenz, Margarita S
- Smith, Rosemarie
- Ellingwood, Sara
- Grange, Dorothy K
- Hu, Xuyun
- Mireguli, Maimaiti
- Luo, Yanfei
- Shen, Yiping
- Mulhern, Maureen
- Zackai, Elaine
- Ritter, Alyssa
- Izumi, Kosaki
- Hoefele, Julia
- Wagner, Matias
- Riedhammer, Korbinian M
- Seitz, Barbara
- Robin, Nathaniel H
- Goodloe, Dana
- Mignot, Cyril
- Keren, Boris
- Cox, Helen
- Jarvis, Joanna
- Hempel, Maja
- Gibson, Cynthia Forster
- Tran Mau-Them, Frederic
- Vitobello, Antonio
- Bruel, Ange-Line
- Sorlin, Arthur
- Mehta, Sarju
- Raymond, F Lucy
- Gilmore, Kelly
- Powell, Bradford C
- Weck, Karen
- Li, Chumei
- Vulto-van Silfhout, Anneke T
- Giacomini, Thea
- Mancardi, Maria Margherita
- Accogli, Andrea
- Salpietro, Vincenzo
- Zara, Federico
- Vora, Neeta L
- Davis, Erica E
- Burdine, Rebecca
- Bhoj, Elizabeth
2023
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Journal of bone and mineral research, 2016-04, Vol.31 (4), p.796-805
2016
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Biochemical Society transactions, 1983-08, Vol.11 (4), p.435
1983
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Journal of medical genetics, 2018-02, Vol.55 (2), p.114
2018
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American journal of human genetics, 2018-10, Vol.103 (4), p.592-601
- Alston, Charlotte L.
- Heidler, Juliana
- Dibley, Marris G.
- Kremer, Laura S.
- Taylor, Lucie S.
- Fratter, Carl
- French, Courtney E.
- Glasgow, Ruth I.C.
- Feichtinger, René G.
- Delon, Isabelle
- Pagnamenta, Alistair T.
- Dolling, Helen
- Lemonde, Hugh
- Aiton, Neil
- Bjørnstad, Alf
- Henneke, Lisa
- Gärtner, Jutta
- Thiele, Holger
- Tauchmannova, Katerina
- Quaghebeur, Gerardine
- Houstek, Josef
- Sperl, Wolfgang
- Raymond, F. Lucy
- Prokisch, Holger
- Mayr, Johannes A.
- McFarland, Robert
- Poulton, Joanna
- Ryan, Michael T.
- Wittig, Ilka
- Henneke, Marco
- Taylor, Robert W.
2018
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American journal of human genetics, 2017-02, Vol.100 (2), p.334-342
- Arno, Gavin
- Zihni, Ceniz
- Robson, Anthony G.
- Fiorentino, Alessia
- Black, Graeme
- Ponitkos, Nikos
- Holder, Graham E.
- Aitman, Timothy
- Alachkar, Hana
- Allsup, David
- Anderson, Julie
- Armstrong, Ruth
- Arumugakani, Gururaj
- Ashford, Sofie
- Bakchoul, Tamam
- Bariana, Tadbir K.
- Bibi, Shahnaz
- Bitner-Glindzicz, Maria
- Bolton-Maggs, Paula
- Brady, Angie
- Brown, Matthew
- Caulfield, Mark
- Chitre, Manali
- Clowes, Virginia
- Coghlan, Gerry
- Collins, Peter
- Creaser-Myers, Amanda
- DaCosta, Rosa
- Davies, Sophie
- Deegan, Patrick
- Deshpande, Charu
- Doffinger, Rainer
- Egner, William
- Erwood, Marie
- Favier, Remi
- Flinter, Frances
- Furie, Bruce
- Furnell, Abigail
- Gardham, Alice
- Gattens, Michael
- Ghataorhe, Pavandeep K.
- Gibbs, Simon
- Gilmour, Kimberley
- Gissen, Paul
- Goddard, Sarah
- Gordins, Pavel
- Greinacher, Andreas
- Grigoriadou, Sofia
- Hayman, Grant
- Henderson, Robert
- Henskens, Yvonne
- Holden, Simon
- Hu, Fengyuan
- Jolles, Stephen
- Josifova, Dragana
- Keeling, David
- Kelleher, Peter
- Kelly, Anne M.
- Kuijpers, Taco W.
- Kumararatne, Dinakantha
- Kurian, Manju
- Laffan, Michael A.
- Linger, Rachel
- Machado, Rajiv
- Manson, Ania
- Markus, Hugh S.
- Meehan, Sharon
- Ouwehand, Willem H.
- Park, Soo-Mi
- Parker, Alasdair
- Paterson, Joan
- Peerlinck, Kathelijne
- Perry, David J.
- Qasim, Waseem
- Rankin, Julia
- Rehnstrom, Karola
- Roberts, Irene
- Roughley, Catherine
- Rue-Albrecht, Kevin
- Schulze, Harald
- Shamardina, Olga
- Shipley, Debbie
- Simeoni, Ilenia
- Stephens, Jonathan
- Suntharalingam, Jay
- Thachil, Jecko
- Thaventhiran, James
- Thomas, Ellen
- Titterton, Catherine
- Toh, Cheng-Hock
- Turek, Wojciech
- Turro, Ernest
- Van Geet, Chris
- Wakeling, Emma
- Warner, Timothy Q.
- Webster, Andrew
- Wilkins, Martin
- Young, Tim
- Yu, Ping
- Webster, Andrew R.
2017
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Movement disorders, 2020-02, Vol.35 (2), p.372-373
2020
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Genetics in medicine, 2021-03, Vol.23 (3), p.488-497
2021
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British journal of psychiatry, 2021-06, Vol.218 (6), p.315-322
2021
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European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.687-694
2018
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Genetics in medicine, 2017-08, Vol.19 (8), p.900-908
- Bengani, Hemant
- Handley, Mark
- Alvi, Mohsan
- Ibitoye, Rita
- Lees, Melissa
- Lynch, Sally Ann
- Lam, Wayne
- Fannemel, Madeleine
- Nordgren, Ann
- Malmgren, H
- Kvarnung, M
- Mehta, Sarju
- McKee, Shane
- Whiteford, Margo
- Stewart, Fiona
- Connell, Fiona
- Clayton-Smith, Jill
- Mansour, Sahar
- Mohammed, Shehla
- Fryer, Alan
- Morton, Jenny
- Grozeva, Detelina
- Asam, Tara
- Moore, David
- Sifrim, Alejandro
- McRae, Jeremy
- Hurles, Matthew E
- Firth, Helen V
- Raymond, F Lucy
- Kini, Usha
- Nellåker, Christoffer
- Ddd Study
- FitzPatrick, David R
2017
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Neurology, 2023-03, Vol.100 (12), p.e1234
- Carapancea, Evelina
- Cornet, Marie-Coralie
- Milh, Mathieu
- De Cosmo, Lucrezia
- Huang, Eric J
- Granata, Tiziana
- Striano, Pasquale
- Ceulemans, Berten
- Stein, Anja
- Morris-Rosendahl, Deborah
- Conti, Greta
- Mitra, Nipa
- Raymond, F Lucy
- Rowitch, David H
- Solazzi, Roberta
- Vercellino, Fabiana
- De Liso, Paola
- D'Onofrio, Gianluca
- Boniver, Clementina
- Danhaive, Olivier
- Carkeek, Katherine
- Salpietro, Vincenzo
- Weckhuysen, Sarah
- Fedrigo, Marny
- Angelini, Annalisa
- Castellotti, Barbara
- Lederer, Damien
- Benoit, Valerie
- Raviglione, Federico
- Guerrini, Renzo
- Dilena, Robertino
- Cilio, Maria Roberta
2023
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Investigative ophthalmology & visual science, 2018-10, Vol.59 (12), p.4812-4820
2018
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Gene, 2004-06, Vol.335, p.109-119
2004
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Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95
- Sanchis-Juan, Alba
- Stephens, Jonathan
- French, Courtney E
- Gleadall, Nicholas
- Mégy, Karyn
- Penkett, Christopher
- Shamardina, Olga
- Stirrups, Kathleen
- Delon, Isabelle
- Dewhurst, Eleanor
- Dolling, Helen
- Erwood, Marie
- Grozeva, Detelina
- Stefanucci, Luca
- Arno, Gavin
- Webster, Andrew R
- Cole, Trevor
- Austin, Topun
- Branco, Ricardo Garcia
- Ouwehand, Willem H
- Raymond, F Lucy
- Carss, Keren J
2018
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American journal of human genetics, 2017-01, Vol.100 (1), p.75-90
- Stephens, Jonathan
- Dewhurst, Eleanor
- Malka, Samantha
- Plagnol, Vincent
- Rizzo, Roberta
- Scott, Richard H.
- Henderson, Robert H.H.
- MacLaren, Robert E.
- Paterson, Joan
- Aitman, Timothy
- Ali, Sonia
- Ambegaonkar, Gautum
- Arno, Gavin
- Astle, William
- Attwood, Antony
- Bennett, David
- Bitner-Glindzicz, Maria
- Bleda, Marta
- Boggard, Harm
- Carss, Keren
- Clements-Brod, Naomi
- DaCosta, Rosa
- De Vries, Minka
- Drewe, Elizabeth
- Egner, William
- Erber, Wendy N.
- Everington, Tamara
- Fletcher, Debra
- Freson, Kathleen
- Gale, Daniel
- Ghali, Neeti
- Ghurye, Rohit
- Gräf, Stefan
- Greene, Daniel
- Grigoriadou, Sofia
- Grozeva, Detelina
- Hackett, Scott
- Hadinnapola, Charaka
- Hague, Rosie
- Hammerton, Tracey
- Heemskerk, Johan W.M.
- Holder, Muriel
- Holder, Susan
- Huissoon, Aarnoud
- Hurst, Jane
- Jolles, Stephen
- Keeling, David
- Kennedy, Fiona
- Kiely, David
- Lawrie, Allan
- Lear, Sara
- Lees, Melissa
- Lentaigne, Claire
- Lorenzo, Lorena
- Mangles, Sarah
- Mapeta, Rutendo
- Masati, Larahmie
- Mathias, Mary
- Michaelides, Michel
- Millar, Carolyn M.
- Moledina, Shahin
- Moore, Anthony
- Murng, Sai
- Oksenhendler, Eric
- Park, Soo-Mi
- Patch, Chris
- Penkett, Christopher J.
- Pepke-Zaba, Joanna
- Pollock, Val
- Qasim, Waseem
- Quinti, Isabella
- Reid, Evan
- Rondina, Matthew
- Rosser, Elisabeth
- Santra, Saikat
- Sargur, Ravishankar
- Savic, Sinisa
- Scully, Marie
- Sewell, Carrock
- Smith, Kenneth
- Southgate, Laura
- Stauss, Hans
- Stein, Penelope
- Talks, Kate
- Thomas, Ellen
- Thrasher, Adrian
- Tischkowitz, Marc
- Titterton, Catherine
- Turro, Ernest
- von Ziegenweldt, Julie
- Vonk Noordegraaf, Anton
- Wakeling, Emma
- Wanjiku, Ivy
- Welch, Steve
- Westbury, Sarah
- Woods, Geoffrey
- Yong, Patrick
- Webster, Andrew R.
2017
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Prenatal diagnosis, 2014-01, Vol.34 (1), p.12-17
2014
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CNS oncology, 2022-06, Vol.11 (2), p.CNS84
2022
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Genetics in medicine, 2019-08, Vol.21 (8), p.1751-1760
- Sangermano, Riccardo
- Garanto, Alejandro
- Khan, Mubeen
- Runhart, Esmee H
- Bauwens, Miriam
- Bax, Nathalie M
- van den Born, L Ingeborgh
- Khan, Muhammad Imran
- Cornelis, Stéphanie S
- Verheij, Joke B G M
- Pott, Jan-Willem R
- Thiadens, Alberta A H J
- Klaver, Caroline C W
- Puech, Bernard
- Meunier, Isabelle
- Naessens, Sarah
- Arno, Gavin
- Fakin, Ana
- Carss, Keren J
- Raymond, F Lucy
- Webster, Andrew R
- Dhaenens, Claire-Marie
- Stöhr, Heidi
- Grassmann, Felix
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- De Baere, Elfride
- Albert, Silvia
- Collin, Rob W J
- Cremers, Frans P M
2019
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American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1665-1671
- Fasham, James
- Arno, Gavin
- Lin, Siying
- Xu, Mingchu
- Carss, Keren J.
- Hull, Sarah
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- Wenger, Olivia
- Self, Jay E.
- Harlalka, Gaurav V.
- Salter, Claire G.
- Schema, Lynn
- Moss, Timothy J.
- Cheetham, Michael E.
- Moore, Anthony T.
- Raymond, F. Lucy
- Chen, Rui
- Baple, Emma L.
- Webster, Andrew R.
- Crosby, Andrew H.
2019
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JAMA ophthalmology, 2017-07, Vol.135 (7), p.749
2017
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Science translational medicine, 2010-09, Vol.2 (49), p.49ra68
- Noor, Abdul
- Whibley, Annabel
- Marshall, Christian R
- Gianakopoulos, Peter J
- Piton, Amelie
- Carson, Andrew R
- Orlic-Milacic, Marija
- Lionel, Anath C
- Sato, Daisuke
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- Drmic, Irene
- Noakes, Carolyn
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- Mo, Rong
- Gauthier, Julie
- Crosbie, Jennifer
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2010
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Movement disorders, 2020-08, Vol.35 (8), p.1357-1368
- Ng, Joanne
- Cortès‐Saladelafont, Elisenda
- Abela, Lucia
- Termsarasab, Pichet
- Mankad, Kshitij
- Sudhakar, Sniya
- Gorman, Kathleen M.
- Heales, Simon J.R.
- Pope, Simon
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- Csányi, Barbara
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- Rakshi, Karl
- Coutts, Helen
- Jayawant, Sandeep
- Jefferson, Rosalind
- Hughes, Deborah
- García‐Cazorla, Àngels
- Grozeva, Detelina
- Raymond, F. Lucy
- Pérez‐Dueñas, Belén
- De Goede, Christian
- Pearson, Toni S.
- Meyer, Esther
- Kurian, Manju A.
2020
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Science translational medicine, 2016-03, Vol.8 (328), p.328ra30
- Turro, Ernest
- Greene, Daniel
- Wijgaerts, Anouck
- Thys, Chantal
- Lentaigne, Claire
- Bariana, Tadbir K
- Westbury, Sarah K
- Kelly, Anne M
- Selleslag, Dominik
- Stephens, Jonathan C
- Papadia, Sofia
- Simeoni, Ilenia
- Penkett, Christopher J
- Ashford, Sofie
- Attwood, Antony
- Austin, Steve
- Bakchoul, Tamam
- Collins, Peter
- Deevi, Sri V V
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- Peerlinck, Kathelijne
- Perry, David J
- Schulman, Sol
- Whitehorn, Deborah
- Wittevrongel, Christine
- De Maeyer, Marc
- Rendon, Augusto
- Gomez, Keith
- Erber, Wendy N
- Mumford, Andrew D
- Nurden, Paquita
- Stirrups, Kathleen
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2016
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