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The New England journal of medicine, 2012-09, Vol.367 (11), p.1002-1011
2012
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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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American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2231-2237
2015
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.591-610
2019
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Journal of laryngology and otology, 2024-05, p.1-7
2024
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JNCI : Journal of the National Cancer Institute, 2013-11, Vol.105 (21), p.1595-1597
2013
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Human genetics, 2004-10, Vol.115 (5), p.399-408
2004
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American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.319-329
2018
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American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2052-2064
- Barber, John C. K.
- Rosenfeld, Jill A.
- Graham, John M.
- Kramer, Nancy
- Lachlan, Katherine L.
- Bateman, Mark S.
- Collinson, Morag N.
- Stadheim, Barbro Fossøy
- Turner, Claire L. S.
- Gauthier, Jacqueline N.
- Reimschisel, Tyler E.
- Qureshi, Athar M.
- Dabir, Tabib A.
- Humphreys, Mervyn W.
- Marble, Michael
- Huang, Taosheng
- Beal, Sarah J.
- Massiah, Joanne
- Taylor, Emma-Jane
- Wynn, Sarah L.
2015
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Journal of medical genetics, 2007-09, Vol.44 (9), p.579-585
2007
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European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1387-1393
2020
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European journal of human genetics : EJHG, 2004-10, Vol.12 (10), p.790-796
2004
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PloS one, 2016-04, Vol.11 (4), p.e0153757-e0153757
- Ansari, Morad
- Rainger, Jacqueline
- Hanson, Isabel M
- Williamson, Kathleen A
- Sharkey, Freddie
- Harewood, Louise
- Sandilands, Angela
- Clayton-Smith, Jill
- Dollfus, Helene
- Bitoun, Pierre
- Meire, Francoise
- Fantes, Judy
- Franco, Brunella
- Lorenz, Birgit
- Taylor, David S
- Stewart, Fiona
- Willoughby, Colin E
- McEntagart, Meriel
- Khaw, Peng Tee
- Clericuzio, Carol
- Van Maldergem, Lionel
- Williams, Denise
- Newbury-Ecob, Ruth
- Traboulsi, Elias I
- Silva, Eduardo D
- Madlom, Mukhlis M
- Goudie, David R
- Fleck, Brian W
- Wieczorek, Dagmar
- Kohlhase, Juergen
- McTrusty, Alice D
- Gardiner, Carol
- Yale, Christopher
- Moore, Anthony T
- Russell-Eggitt, Isabelle
- Islam, Lily
- Lees, Melissa
- Beales, Philip L
- Tuft, Stephen J
- Solano, Juan B
- Splitt, Miranda
- Hertz, Jens Michael
- Prescott, Trine E
- Shears, Deborah J
- Nischal, Ken K
- Doco-Fenzy, Martine
- Prieur, Fabienne
- Temple, I Karen
- Lachlan, Katherine L
- Damante, Giuseppe
- Morrison, Danny A
- van Heyningen, Veronica
- FitzPatrick, David R
- Anderson, Michael G
2016
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The Lancet (British edition), 2013-02, Vol.381, p.S13-S13
2013
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Nature communications, 2020-06, Vol.11 (1), p.3151-3151, Article 3151
- Samson, Andre L
- Zhang, Ying
- Geoghegan, Niall D
- Gavin, Xavier J
- Davies, Katherine A
- Mlodzianoski, Michael J
- Whitehead, Lachlan W
- Frank, Daniel
- Garnish, Sarah E
- Fitzgibbon, Cheree
- Hempel, Anne
- Young, Samuel N
- Jacobsen, Annette V
- Cawthorne, Wayne
- Petrie, Emma J
- Faux, Maree C
- Shield-Artin, Kristy
- Lalaoui, Najoua
- Hildebrand, Joanne M
- Silke, John
- Rogers, Kelly L
- Lessene, Guillaume
- Hawkins, Edwin D
- Murphy, James M
2020
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Conservation biology, 2019-08, Vol.33 (4), p.760-768
- Hayward, Matt W.
- Callen, Alex
- Allen, Benjamin L.
- Ballard, Guy
- Broekhuis, Femke
- Bugir, Cassandra
- Clarke, Rohan H.
- Clulow, John
- Clulow, Simon
- Daltry, Jennifer C.
- Davies‐Mostert, Harriet T.
- Fleming, Peter J. S.
- Griffin, Andrea S.
- Howell, Lachlan G.
- Kerley, Graham I. H.
- Klop‐Toker, Kaya
- Legge, Sarah
- Major, Tom
- Meyer, Ninon
- Montgomery, Robert A.
- Moseby, Katherine
- Parker, Daniel M.
- Périquet, Stéphanie
- Read, John
- Scanlon, Robert J.
- Seeto, Rebecca
- Shuttleworth, Craig
- Somers, Michael J.
- Tamessar, Cottrell T.
- Tuft, Katherine
- Upton, Rose
- Valenzuela‐Molina, Marcia
- Wayne, Adrian
- Witt, Ryan R.
- Wüster, Wolfgang
2019
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Scientific reports, 2015-02, Vol.5 (1), p.8543-8543, Article 8543
2015
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.557-564
- Ostrowski, Philip J.
- Zachariou, Anna
- Loveday, Chey
- Beleza‐Meireles, Ana
- Bertoli, Marta
- Dean, John
- Douglas, Andrew G. L.
- Ellis, Ian
- Foster, Alison
- Graham, John M.
- Hague, Jennifer
- Hilhorst‐Hofstee, Yvonne
- Hoffer, Mariette
- Johnson, Diana
- Josifova, Dragana
- Kant, Sarina G.
- Kini, Usha
- Lachlan, Katherine
- Lam, Wayne
- Lees, Melissa
- Lynch, Sally
- Maitz, Silvia
- McKee, Shane
- Metcalfe, Kay
- Nathanson, Katherine
- Ockeloen, Charlotte W.
- Parker, Michael J.
- Pierson, Tyler M.
- Rahikkala, Elisa
- Sanchez‐Lara, Pedro A.
- Spano, Alice
- Van Maldergem, Lionel
- Cole, Trevor
- Douzgou, Sofia
- Tatton‐Brown, Katrina
2019
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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
2018
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EMBO molecular medicine, 2024-05, Vol.16 (7), p.1717-1749
- Chiou, Shene
- Al-Ani, Aysha H
- Pan, Yi
- Patel, Komal M
- Kong, Isabella Y
- Whitehead, Lachlan W
- Light, Amanda
- Young, Samuel N
- Barrios, Marilou
- Sargeant, Callum
- Rajasekhar, Pradeep
- Zhu, Leah
- Hempel, Anne
- Lin, Ann
- Rickard, James A
- Hall, Cathrine
- Gangatirkar, Pradnya
- Yip, Raymond KH
- Cawthorne, Wayne
- Jacobsen, Annette V
- Horne, Christopher R
- Martin, Katherine R
- Ioannidis, Lisa J
- Hansen, Diana S
- Day, Jessica
- Wicks, Ian P
- Law, Charity
- Ritchie, Matthew E
- Bowden, Rory
- Hildebrand, Joanne M
- O’Reilly, Lorraine A
- Silke, John
- Giulino-Roth, Lisa
- Tsui, Ellen
- Rogers, Kelly L
- Hawkins, Edwin D
- Christensen, Britt
- Murphy, James M
- Samson, André L
2024
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Pediatrics (Evanston), 2014-09, Vol.134 (3), p.e710
- Kolesinska, Zofia
- Ahmed, S Faisal
- Niedziela, Marek
- Bryce, Jillian
- Molinska-Glura, Marta
- Rodie, Martina
- Jiang, Jipu
- Sinnott, Richard O
- Hughes, Ieuan A
- Darendeliler, Feyza
- Hiort, Olaf
- van der Zwan, Yvonne
- Cools, Martine
- Guran, Tulay
- Holterhus, Paul-Martin
- Bertelloni, Silvano
- Lisa, Lidka
- Arlt, Wiebke
- Krone, Nils
- Ellaithi, Mona
- Balsamo, Antonio
- Mazen, Inas
- Nordenstrom, Anna
- Lachlan, Katherine
- Alkhawari, Mona
- Chatelain, Pierre
- Weintrob, Naomi
2014
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Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014
2020
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Biological conservation, 2020-01, Vol.241, p.108365, Article 108365
- Callen, Alex
- Hayward, Matt W.
- Klop-Toker, Kaya
- Allen, Benjamin L.
- Ballard, Guy
- Beranek, Chad T.
- Broekhuis, Femke
- Bugir, Cassandra K
- Clarke, Rohan H.
- Clulow, John
- Clulow, Simon
- Daltry, Jennifer C.
- Davies-Mostert, Harriet T.
- Di Blanco, Yamil E.
- Dixon, Victoria
- Fleming, Peter J.S.
- Howell, Lachlan G.
- Kerley, Graham I.H.
- Legge, Sarah M.
- Lenga, Dean J.
- Major, Tom
- Montgomery, Robert A.
- Moseby, Katherine
- Meyer, Ninon
- Parker, Dan M.
- Périquet, Stéphanie
- Read, John
- Scanlon, Robert J.
- Shuttleworth, Craig
- Tamessar, Cottrell T.
- Taylor, William Andrew
- Tuft, Katherine
- Upton, Rose M.O.
- Valenzuela, Marcia
- Witt, Ryan R.
- Wüster, Wolfgang
2020
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Journal of clinical oncology, 2023-02, Vol.41 (6_suppl), p.219-219
2023
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Clinical infectious diseases, 2008-02, Vol.46 (3), p.443-446
2008
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- American Journal Of Medical Genetics. Part A
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