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1
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

Tolchin, Dara ; Stevens, H.E ; Yeager, Jessica P ; Prasad, Priya ; Dorrani, Naghmeh ; Russi, Alvaro Serrano ; Haseeb, Abdul ; Angelozzi, Marco ; Santen, G.W.E ; Ruivenkamp, Claudia ; Mercimek-Andrews, Saadet ; Depienne, Christel ; Kuechler, Alma ; Mikat, Barbara ; Ludecke, Hermann-Josef ; Bilan, Frederic ; Le Guyader, Gwenael ; Gilbert-Dussardier, Brigitte ; Keren, Boris ; Heide, Solveig ; Haye, Damien ; Van Esch, Hilde ; Keldermans, Liesbeth ; Lancaster, Emily ; Krantz, Ian D ; Krock, Bryan L ; Pechter, Kieran B ; Medne, Livija ; DeChene, Elizabeth T ; Calpena, Eduardo ; Melistaccio, Giada ; Wilkie, Andrew O.M ; Suri, Mohnish ; Foulds, Nicola ; Ambrose, J.C ; 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 ; Holman, J.E ; Hubbard, T.J.P ; Kasperaviciute, D ; Kayikci, M ; Lahnstein, L ; Lawson, K ; Leigh, S.E.A ; Lopez, F.J ; Maleady-Crowe, F ; Mason, J ; Moutsianas, L ; Mueller, M ; Need, A.C ; Odhams, C.A ; Patch, C ; Perez-Gil, D ; Polychronopoulos, D ; Pullinger, J ; Rendon, A ; Rogers, T ; Ryten, M ; Savage, K ; Scott, R.H ; Siddiq, A ; Smedley, D ; Smith, K.R ; Sosinsky, A ; Spooner, W ; Stuckey, A ; Thompson, S.R ; Tucci, A ; Walsh, E ; Watters, S.A ; Welland, M.J ; Witkowska, K ; Wood, S.M ; Zarowiecki, M ; Begtrup, Amber ; Forster, Cara ; Reed, Patrick ; McDonald, Marie T ; Thevenon, Julien ; Le Tanno, Pauline ; Tsai, Anne C.H ; Stewart, Sarah ; Gorazd, Rudolf ; Nizon, Mathilde ; Cogné, Benjamin ; Isidor, Bertrand

Elsevier Inc 2020-06

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2
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Late diagnoses of Dravet syndrome: How many individuals are we missing?
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Late diagnoses of Dravet syndrome: How many individuals are we missing?

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.

Epilepsia Open, 2021-12, Vol.6 (4), p.770-776 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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3
eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data
eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data
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eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data

Breeze, C.E ; Paul, D.S ; van Dongen, J ; Butcher, L.M ; Ambrose, J.C ; Barrett, J.E ; Lowe, R ; Rakyan, V.K ; Iotchkova, V ; Frontini, M ; Downes, K ; Ouwehand, W.H ; Laperle, J ; Jacques, P.E ; Bourque, G ; Bergmann, A.K ; Siebert, R ; Vellenga, E ; Saeed, S ; Matarese, F ; Martens, J.H ; Stunnenberg, H.G ; Teschendorff, A.E ; Herrero, J.L ; Birney, E ; Dunham, I ; Beck, S

2016

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4
eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data
eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data
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eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data

Breeze, C.E ; Paul, D.S ; van Dongen, J ; Butcher, L.M ; Ambrose, J.C ; Barrett, J.E ; Lowe, R ; Rakyan, V.K ; Iotchkova, V ; Frontini, M ; Downes, K ; Ouwehand, W.H ; Laperle, J ; Jacques, P.E ; Bourque, G ; Bergmann, A.K ; Siebert, R ; Vellenga, E ; Saeed, S ; Matarese, F ; Martens, J.H ; Stunnenberg, H.G ; Teschendorff, A.E ; Herrero, J.L ; Birney, E ; Dunham, I ; Beck, S

2016

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5
High incidence of co-infection with Malaria and Typhoid in febrile HIV infected and AIDS patients in Ekpoma, Edo State, Nigeria
High incidence of co-infection with Malaria and Typhoid in febrile HIV infected and AIDS patients in Ekpoma, Edo State, Nigeria
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High incidence of co-infection with Malaria and Typhoid in febrile HIV infected and AIDS patients in Ekpoma, Edo State, Nigeria

Agwu, E.(Ambrose Alli University College of Medicine Faculty of Clinical Sciences) ; Ihongbe, J.C.(Ambrose Alli University College of Medicine Faculty of Basic Medical Sciences) ; Okogun, G.R.A.(Ambrose Alli University College of Medicine Faculty of Basic Medical Sciences) ; Inyang, N.J.(Ambrose Alli University College of Medicine Faculty of Basic Medical Sciences)

Brazilian journal of microbiology, 2009-04, Vol.40 (2), p.329-332 [Periódico revisado por pares]

Brazil: Sociedade Brasileira de Microbiologia

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6
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Bouman, A ; Hoogenboezem, R.M ; Admard, J ; Benke, P.J ; Blesson, A.E ; Clayton-Smith, J ; Goodloe, D.H ; Robin, N.H ; Zhou, D ; Ambrose, J.C ; Boardman-Pretty, F ; Brittain, H ; Brown, M.A ; Giess, A ; Hamblin, A ; Henderson, S ; Hubbard, T.J.P ; Jackson, R ; Kousathanas, A ; Lakey, A ; Leigh, S.E.A ; Murugaesu, N ; Perez-Gil, D ; Rogers, T ; Scott, R.H ; Siddiq, A ; Sosinsky, A ; Thomas, E.R.A ; Welland, M.J ; Alvey, J ; Allworth, A ; Andrews, A ; Ashley, E.A ; Bacino, C.A ; Bademci, G ; Bayrak-Toydemir, P ; Bennet, J ; Berry, G.T ; Burrage, L.C ; Butte, M.J ; Chanprasert, S ; Chao, H.-T ; Chinn, I ; Coakley, T.R ; Cole, F.S ; Colley, H.A ; Cope, H ; Craigen, W.J ; Crouse, A.B ; Dai, H ; Emrick, L.T ; Fisher, P.G ; Goddard, P.C ; High, F ; Holm, I.A ; Huang, A ; Hutchison, S ; Introne, W ; Isasi, R ; Jarvik, G.P ; Kravets, E ; Lam, C ; Lanpher, B.C ; LeBlanc, K ; Longo, N ; Maghiro, A ; Malicdan, M.C ; Manolio, T.A ; Mao, R ; Marom, R ; Martínez-Agosto, J.A ; McCray, A.T ; McGee, E ; Might, M ; Morava, E ; Novacic, D ; Swerdzewski, B.N ; Raskind, W ; Reuter, C ; Rosenthal, E ; Ruzhnikov, M ; Schoch, K ; Scott, D.A ; Sharma, P ; Shin, J ; Sisco, K ; Smith, E ; Stoler, J ; Sullivan, J ; Sybert, V ; Tarakad, A ; Thorson, W ; Tifft, C ; Toro, C ; Tran, A.A ; Ungar, R.A ; Ward, P.A ; Weisz, M ; Wenger, T ; Westerfield, M

Elsevier BV 2023-08

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7
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
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Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

Robbe, P ; Ridout, K.E ; Vavoulis, D.V ; Dréau, H ; Denny, N ; Appleby, N ; Cutts, A ; Lopez-Pascua, L ; Burns, A ; Stamatopoulos, B ; Cabes, M ; Cavalieri, D ; Ambrose, J.C ; Arumugam, P ; Boustred, C.R ; Brittain, H ; Caulfield, M.J ; Hamblin, A ; Henderson, S ; Hubbard, T.J.P ; Jackson, R ; Jones, L.J ; Kasperaviciute, D ; Kousathanas, A ; Lahnstein, L ; Leigh, S.E.A ; Leong, I.U.S ; Lopez, F.J ; McEntagart, M ; Minneci, F ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, A.C ; O’Donovan, P ; Odhams, C.A ; Perez-Gil, D ; Pereira, M.B ; Pullinger, J ; Rahim, T ; Rendon, A ; Rogers, T ; Sawant, K ; Scott, R.H ; Siddiq, A ; Sieghart, A ; Smith, S.C ; Sosinsky, A ; Tanguy, M ; Taylor Tavares, A.L ; Thompson, S.R ; Tucci, A ; Witkowska, K ; Wood, S.M ; Allan, J ; Bisshopp, G ; Blakemore, S ; Boultwood, J ; Cohen, G ; Cwynarski, K ; Dearden, C ; Dillon, R ; Ennis, S ; Falciani, F ; Follows, G ; Forconi, F ; Forster, J ; Gribben, J ; Hockaday, A ; Howard, D ; Jackson, A ; Kalakonda, N ; Khan, U ; Law, P ; Lin, K ; Maseno, S ; Moss, P ; Palles, C ; Parker, H ; Patten, P ; Rawstron, A ; Rose-Zerilli, M ; Slupsky, J ; Stankovic, T ; Steele, A ; Varadarajan, S ; Westhead, D ; Wordsworth, S ; Gibson, J ; Schwessinger, R ; Jennings, D ; Duran-Ferrer, M ; Carninci, P ; Knight, S.J.L ; Hughes, J ; Davies, J ; Ross, M ; Bentley, D ; Strefford, J.C ; Houlston, R.S

Nature Research 2022-11

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8
Dynamics of braze spreading
Dynamics of braze spreading
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Dynamics of braze spreading

Ambrose, J.C. ; Nicholas, M.G. ; Stoneham, A.M.

Acta metallurgica et materialia, 1992-10, Vol.40 (10), p.2483-2488

OXFORD: Elsevier Ltd

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9
Dynamics of liquid drop spreading in metal-metal systems
Dynamics of liquid drop spreading in metal-metal systems
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Dynamics of liquid drop spreading in metal-metal systems

Ambrose, J.C. ; Nicholas, M.G. ; Stoneham, A.M.

Acta metallurgica et materialia, 1993-08, Vol.41 (8), p.2395-2401

Tarrytown, NY: Elsevier Ltd

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