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Genes & development, 2016-10, Vol.30 (19), p.2158-2172
- Martin, Carol-Anne
- Murray, Jennie E
- Carroll, Paula
- Leitch, Andrea
- Mackenzie, Karen J
- Halachev, Mihail
- Fetit, Ahmed E
- Keith, Charlotte
- Bicknell, Louise S
- Fluteau, Adeline
- Gautier, Philippe
- Hall, Emma A
- Joss, Shelagh
- Soares, Gabriela
- Silva, João
- Bober, Michael B
- Duker, Angela
- Wise, Carol A
- Quigley, Alan J
- Phadke, Shubha R
- Wood, Andrew J
- Vagnarelli, Paola
- Jackson, Andrew P
2016
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American journal of human genetics, 2015-03, Vol.96 (3), p.412-424
- Murray, Jennie E.
- van der Burg, Mirjam
- IJspeert, Hanna
- Carroll, Paula
- Wu, Qian
- Ochi, Takashi
- Leitch, Andrea
- Miller, Edward S.
- Kysela, Boris
- Jawad, Alireza
- Bottani, Armand
- Brancati, Francesco
- Cappa, Marco
- Cormier-Daire, Valerie
- Deshpande, Charu
- Faqeih, Eissa A.
- Graham, Gail E.
- Ranza, Emmanuelle
- Blundell, Tom L.
- Jackson, Andrew P.
- Stewart, Grant S.
- Bicknell, Louise S.
2015
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Nature genetics, 2011-04, Vol.43 (4), p.350-355
2011
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American journal of human genetics, 2016-07, Vol.99 (1), p.125-138
- Fenwick, Aimee L.
- Kliszczak, Maciej
- Cooper, Fay
- Murray, Jennie
- Sanchez-Pulido, Luis
- Twigg, Stephen R.F.
- Goriely, Anne
- McGowan, Simon J.
- Miller, Kerry A.
- Taylor, Indira B.
- Logan, Clare
- Bozdogan, Sevcan
- Danda, Sumita
- Dixon, Joanne
- Elsayed, Solaf M.
- Elsobky, Ezzat
- Gardham, Alice
- Hoffer, Mariette J.V.
- Koopmans, Marije
- McDonald-McGinn, Donna M.
- Santen, Gijs W.E.
- Savarirayan, Ravi
- de Silva, Deepthi
- Vanakker, Olivier
- Wall, Steven A.
- Wilson, Louise C.
- Yuregir, Ozge Ozalp
- Zackai, Elaine H.
- Ponting, Chris P.
- Jackson, Andrew P.
- Wilkie, Andrew O.M.
- Niedzwiedz, Wojciech
- Bicknell, Louise S.
2016
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Journal of human genetics, 2020-09, Vol.65 (9), p.743-750
2020
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Human mutation, 2014-01, Vol.35 (1), p.76-85
- Murray, Jennie E.
- Bicknell, Louise S.
- Yigit, Gökhan
- Duker, Angela L.
- van Kogelenberg, Margriet
- Haghayegh, Sara
- Wieczorek, Dagmar
- Kayserili, Hülya
- Albert, Michael H.
- Wise, Carol A.
- Brandon, January
- Kleefstra, Tjitske
- Warris, Adilia
- van der Flier, Michiel
- Bamforth, J. Steven
- Doonanco, Kurston
- Adès, Lesley
- Ma, Alan
- Field, Michael
- Johnson, Diana
- Shackley, Fiona
- Firth, Helen
- Woods, C. Geoffrey
- Nürnberg, Peter
- Gatti, Richard A.
- Hurles, Matthew
- Bober, Michael B.
- Wollnik, Bernd
- Jackson, Andrew P.
2014
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Human mutation, 2018-12, Vol.39 (12), p.1847-1853
2018
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Nature (London), 2013-09, Vol.501 (7467), p.373-379
2013
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European journal of human genetics : EJHG, 2023-11, Vol.31 (11), p.1209-1217
2023
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Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome
2022
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Journal of medical genetics, 2023-03, Vol.60 (3), p.213
2023
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European journal of human genetics : EJHG, 2023-08, Vol.31 (8), p.859-868
2023
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Journal of medical genetics, 2020-03, Vol.57 (3), p.195
2020
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American journal of human genetics, 2018-12, Vol.103 (6), p.1038-1044
- Logan, Clare V.
- Murray, Jennie E.
- Parry, David A.
- Robertson, Andrea
- Bellelli, Roberto
- Tarnauskaitė, Žygimantė
- Challis, Rachel
- Cleal, Louise
- Borel, Valerie
- Fluteau, Adeline
- Santoyo-Lopez, Javier
- Aitman, Timothy J.
- Biankin, Andrew V.
- Cooke, Susanna L.
- Humphrey, Wendy Inglis
- Martin, Sancha
- Mennie, Lynne
- Meynert, Alison
- Miedzybrodzka, Zosia
- Murphy, Fiona
- Nourse, Craig
- Semple, Colin A.
- Williams, Nicola
- Aitman, Tim
- Barroso, Inês
- Basel, Donald
- Bicknell, Louise S.
- Goel, Himanshu
- Hu, Hao
- Huff, Chad
- Hutchison, Michele
- Joyce, Caroline
- Knox, Rachel
- Lacroix, Amy E.
- Langlois, Sylvie
- McCandless, Shawn
- McCarrier, Julie
- Metcalfe, Kay A.
- Morrissey, Rose
- Murphy, Nuala
- Netchine, Irène
- O’Connell, Susan M.
- Olney, Ann Haskins
- Paria, Nandina
- Rosenfeld, Jill A.
- Sherlock, Mark
- Syverson, Erin
- White, Perrin C.
- Wise, Carol
- Yu, Yao
- Zacharin, Margaret
- Banerjee, Indraneel
- Reijns, Martin
- Bober, Michael B.
- Semple, Robert K.
- Boulton, Simon J.
- Rios, Jonathan J.
- Jackson, Andrew P.
2018
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American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1637-1641
2019
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American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.871-876
2021
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European journal of medical genetics, 2021-04, Vol.64 (4), p.104182-104182, Article 104182
2021
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Nature genetics, 2014-12, Vol.46 (12), p.1283-1292
- Martin, Carol-Anne
- Ahmad, Ilyas
- Klingseisen, Anna
- Hussain, Muhammad Sajid
- Bicknell, Louise S
- Leitch, Andrea
- Nürnberg, Gudrun
- Toliat, Mohammad Reza
- Murray, Jennie E
- Hunt, David
- Khan, Fawad
- Ali, Zafar
- Tinschert, Sigrid
- Ding, James
- Keith, Charlotte
- Harley, Margaret E
- Heyn, Patricia
- Müller, Rolf
- Hoffmann, Ingrid
- Cormier-Daire, Valérie
- Dollfus, Hélène
- Dupuis, Lucie
- Bashamboo, Anu
- McElreavey, Kenneth
- Kariminejad, Ariana
- Mendoza-Londono, Roberto
- Moore, Anthony T
- Saggar, Anand
- Schlechter, Catie
- Weleber, Richard
- Thiele, Holger
- Altmüller, Janine
- Höhne, Wolfgang
- Hurles, Matthew E
- Noegel, Angelika Anna
- Baig, Shahid Mahmood
- Nürnberg, Peter
- Jackson, Andrew P
2014
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European journal of human genetics : EJHG, 2024-03
2024
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BMC bioinformatics, 2013-06, Vol.14 (1), p.195-195, Article 195
2013
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Wellcome open research, 2017, Vol.2, p.106-106
2017
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Nature genetics, 2016-01, Vol.48 (1), p.36-43
- Harley, Margaret E
- Murina, Olga
- Leitch, Andrea
- Higgs, Martin R
- Bicknell, Louise S
- Yigit, Gökhan
- Blackford, Andrew N
- Zlatanou, Anastasia
- Mackenzie, Karen J
- Reddy, Kaalak
- Halachev, Mihail
- McGlasson, Sarah
- Reijns, Martin A M
- Fluteau, Adeline
- Martin, Carol-Anne
- Sabbioneda, Simone
- Elcioglu, Nursel H
- Altmüller, Janine
- Thiele, Holger
- Greenhalgh, Lynn
- Chessa, Luciana
- Maghnie, Mohamad
- Salim, Mahmoud
- Bober, Michael B
- Nürnberg, Peter
- Jackson, Stephen P
- Hurles, Matthew E
- Wollnik, Bernd
- Stewart, Grant S
- Jackson, Andrew P
2016
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American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63468-n/a
2024
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European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1110-1120
2021
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Nature genetics, , Vol.48 (1), p.36-43
- Harley, Margaret E
- Murina, Olga
- Leitch, Andrea
- Higgs, Martin R
- Bicknell, Louise S
- Yigit, Gökhan
- Blackford, Andrew N
- Zlatanou, Anastasia
- Mackenzie, Karen J
- Reddy, Kaalak
- Halachev, Mihail
- McGlasson, Sarah
- Reijns, Martin A M
- Fluteau, Adeline
- Martin, Carol-Anne
- Sabbioneda, Simone
- Elcioglu, Nursel H
- Altmüller, Janine
- Thiele, Holger
- Greenhalgh, Lynn
- Chessa, Luciana
- Maghnie, Mohamad
- Salim, Mahmoud
- Bober, Michael B
- Nürnberg, Peter
- Jackson, Stephen P
- Hurles, Matthew E
- Wollnik, Bernd
- Stewart, Grant S
- Jackson, Andrew P
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