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Nature reviews. Genetics, 2018-05, Vol.19 (5), p.253
2018
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Nature (London), 2018-10, Vol.562 (7726), p.268-271
2018
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Genetics in medicine, 2019-11, Vol.21 (11), p.2413-2421
2019
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BMJ (Online), 2024-03, Vol.384, p.e077060
2024
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Nature (London), 2018-03, Vol.555 (7698), p.611-616
2018
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Human mutation, 2022-06, Vol.43 (6), p.682-697
2022
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American journal of human genetics, 2009-04, Vol.84 (4), p.524-533
2009
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Nature communications, 2019-10, Vol.10 (1), p.4630-10, Article 4630
- Gardner, Eugene J
- Prigmore, Elena
- Gallone, Giuseppe
- Danecek, Petr
- Samocha, Kaitlin E
- Handsaker, Juliet
- Gerety, Sebastian S
- Ironfield, Holly
- Short, Patrick J
- Sifrim, Alejandro
- Singh, Tarjinder
- Chandler, Kate E
- Clement, Emma
- Lachlan, Katherine L
- Prescott, Katrina
- Rosser, Elisabeth
- FitzPatrick, David R
- Firth, Helen V
- Hurles, Matthew E
2019
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Science (American Association for the Advancement of Science), 2018-12, Vol.362 (6419), p.1161-1164
- Martin, Hilary C
- Jones, Wendy D
- McIntyre, Rebecca
- Sanchez-Andrade, Gabriela
- Sanderson, Mark
- Stephenson, James D
- Jones, Carla P
- Handsaker, Juliet
- Gallone, Giuseppe
- Bruntraeger, Michaela
- McRae, Jeremy F
- Prigmore, Elena
- Short, Patrick
- Niemi, Mari
- Kaplanis, Joanna
- Radford, Elizabeth J
- Akawi, Nadia
- Balasubramanian, Meena
- Dean, John
- Horton, Rachel
- Hulbert, Alice
- Johnson, Diana S
- Johnson, Katie
- Kumar, Dhavendra
- Lynch, Sally Ann
- Mehta, Sarju G
- Morton, Jenny
- Parker, Michael J
- Splitt, Miranda
- Turnpenny, Peter D
- Vasudevan, Pradeep C
- Wright, Michael
- Bassett, Andrew
- Gerety, Sebastian S
- Wright, Caroline F
- FitzPatrick, David R
- Firth, Helen V
- Hurles, Matthew E
- Barrett, Jeffrey C
2018
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European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.21-29
2016
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Genetics in medicine, 2022-08, Vol.24 (8), p.1732-1742
- DiStefano, Marina T.
- Goehringer, Scott
- Babb, Lawrence
- Alkuraya, Fowzan S.
- Amberger, Joanna
- Amin, Mutaz
- Austin-Tse, Christina
- Balzotti, Marie
- Berg, Jonathan S.
- Birney, Ewan
- Bocchini, Carol
- Bruford, Elspeth A.
- Coffey, Alison J.
- Collins, Heather
- Cunningham, Fiona
- Daugherty, Louise C.
- Einhorn, Yaron
- Firth, Helen V.
- Fitzpatrick, David R.
- Foulger, Rebecca E.
- Goldstein, Jennifer
- Hamosh, Ada
- Hurles, Matthew R.
- Leigh, Sarah E.
- Leong, Ivone U.S.
- Maddirevula, Sateesh
- Martin, Christa L.
- McDonagh, Ellen M.
- Olry, Annie
- Puzriakova, Arina
- Radtke, Kelly
- Ramos, Erin M.
- Rath, Ana
- Riggs, Erin Rooney
- Roberts, Angharad M.
- Rodwell, Charlotte
- Snow, Catherine
- Stark, Zornitza
- Tahiliani, Jackie
- Tweedie, Susan
- Ware, James S.
- Weller, Phillip
- Williams, Eleanor
- Wright, Caroline F.
- Yates, Thabo Michael
- Rehm, Heidi L.
2022
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Genetics in medicine, 2021-03, Vol.23 (3), p.571-575
2021
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Nature medicine, 2019-07, Vol.25 (7), p.1153-1163
- Vieira Braga, Felipe A
- Kar, Gozde
- Berg, Marijn
- Carpaij, Orestes A
- Polanski, Krzysztof
- Simon, Lukas M
- Brouwer, Sharon
- Gomes, Tomás
- Hesse, Laura
- Jiang, Jian
- Fasouli, Eirini S
- Efremova, Mirjana
- Vento-Tormo, Roser
- Talavera-López, Carlos
- Jonker, Marnix R
- Affleck, Karen
- Palit, Subarna
- Strzelecka, Paulina M
- Firth, Helen V
- Mahbubani, Krishnaa T
- Cvejic, Ana
- Meyer, Kerstin B
- Saeb-Parsy, Kourosh
- Luinge, Marjan
- Brandsma, Corry-Anke
- Timens, Wim
- Angelidis, Ilias
- Strunz, Maximilian
- Koppelman, Gerard H
- van Oosterhout, Antoon J
- Schiller, Herbert B
- Theis, Fabian J
- van den Berge, Maarten
- Nawijn, Martijn C
- Teichmann, Sarah A
2019
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Genetics in medicine, 2018-10, Vol.20 (10), p.1216-1223
2018
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Nucleic acids research, 2014-01, Vol.42 (Database issue), p.D993
2014
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Nature communications, 2019-05, Vol.10 (1), p.2373-2373, Article 2373
2019
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Nature reviews. Genetics, 2020-06, Vol.21 (6), p.367
- Schaaf, Christian P
- Betancur, Catalina
- Yuen, Ryan K C
- Parr, Jeremy R
- Skuse, David H
- Gallagher, Louise
- Bernier, Raphael A
- Buchanan, Janet A
- Buxbaum, Joseph D
- Chen, Chun-An
- Dies, Kira A
- Elsabbagh, Mayada
- Firth, Helen V
- Frazier, Thomas
- Hoang, Ny
- Howe, Jennifer
- Marshall, Christian R
- Michaud, Jacques L
- Rennie, Olivia
- Szatmari, Peter
- Chung, Wendy K
- Bolton, Patrick F
- Cook, Edwin H
- Scherer, Stephen W
- Vorstman, Jacob A S
2020
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The Lancet (British edition), 2024-02, Vol.403 (10426), p.583-586
2024
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American journal of human genetics, 2021-06, Vol.108 (6), p.1083-1094
- Wright, Caroline F.
- Quaife, Nicholas M.
- Ramos-Hernández, Laura
- Danecek, Petr
- Ferla, Matteo P.
- Samocha, Kaitlin E.
- Kaplanis, Joanna
- Gardner, Eugene J.
- Eberhardt, Ruth Y.
- Chao, Katherine R.
- Karczewski, Konrad J.
- Morales, Joannella
- Gallone, Giuseppe
- Balasubramanian, Meena
- Banka, Siddharth
- Gompertz, Lianne
- Kerr, Bronwyn
- Kirby, Amelia
- Lynch, Sally A.
- Morton, Jenny E.V.
- Pinz, Hailey
- Sansbury, Francis H.
- Stewart, Helen
- Zuccarelli, Britton D.
- Cook, Stuart A.
- Taylor, Jenny C.
- Juusola, Jane
- Retterer, Kyle
- Firth, Helen V.
- Hurles, Matthew E.
- Lara-Pezzi, Enrique
- Barton, Paul J.R.
- Whiffin, Nicola
2021
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Developmental medicine and child neurology, 2011-08, Vol.53 (8), p.702-703
2011
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American journal of human genetics, 2021-11, Vol.108 (11), p.2186-2194
2021
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American journal of human genetics, 2014-04, Vol.94 (4), p.618-624
2014
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Genetics in medicine, 2023-02, Vol.25 (2), p.100331-100331, Article 100331
2023
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PLoS genetics, 2020-09, Vol.16 (9), p.e1008916-e1008916
2020
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The Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314
- Wright, Caroline F, Dr
- Fitzgerald, Tomas W, MS
- Jones, Wendy D, MBBS
- Clayton, Stephen, MRes
- McRae, Jeremy F, PhD
- van Kogelenberg, Margriet, PhD
- King, Daniel A, MD
- Ambridge, Kirsty, BSc
- Barrett, Daniel M, BSc
- Bayzetinova, Tanya, BSc
- Bevan, A Paul, PhD
- Bragin, Eugene, MSc
- Chatzimichali, Eleni A, PhD
- Gribble, Susan, PhD
- Jones, Philip, MSc
- Krishnappa, Netravathi, MSc
- Mason, Laura E, BSc
- Miller, Ray, PhD
- Morley, Katherine I, PhD
- Parthiban, Vijaya, PhD
- Prigmore, Elena, PhD
- Rajan, Diana, MSc
- Sifrim, Alejandro, PhD
- Swaminathan, G Jawahar, PhD
- Tivey, Adrian R, MSc
- Middleton, Anna, PhD
- Parker, Michael, Prof
- Carter, Nigel P, PhD
- Barrett, Jeffrey C, PhD
- Hurles, Matthew E, PhD
- FitzPatrick, David R, Prof
- Firth, Helen V, DM
2015
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