Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne O’donnell-Luria
,
Lynn Pais
,
Víctor Faundes
,
Jordan Wood
,
Abigail Sveden
,
Victor Luria
,
Rami Abou Jamra
(1)
,
Andrea Accogli
,
Kimberly Amburgey
,
Britt Marie Anderlid
(2)
,
Silvia Azzarello-Burri
,
Alice Basinger
,
Claudia S Bianchini
(3)
,
Lynne Bird
,
Rebecca Buchert
,
Wilfrid Carré
(4)
,
Sophia Ceulemans
,
Perrine Charles
(5)
,
Lisa Culliton
,
Aurora Currò
,
Florence Demurger
(6)
,
James J. Dowling
(7)
,
Bénédicte Duban-Bedu
(8)
,
Christèle Dubourg
(9)
,
Saga Elise Eiset
,
Luis Escobar
,
Alessandra Ferrarini
(10)
,
Tobias B Haack
(11)
,
Mona Hashim
,
Solveig Heide
(12)
,
Katherine L. Helbig
(13)
,
Ingo Helbig
(13)
,
Raul Heredia
,
Delphine Héron
(5)
,
Bertrand Isidor
(14)
,
Amy Jonasson
,
Pascal Joset
,
Boris Keren
(5)
,
Fernando Kok
,
Hester Kroes
,
Alinoë Lavillaureix
,
Xin Lu
(15)
,
Saskia Maas
,
Gustavo H.B. Maegawa
,
Carlo L.M. Marcelis
,
Paul Mark
,
Marcelo Masruha
,
Heather Mclaughlin
,
Kirsty Mcwalter
,
Esther Melchinger
,
Saadet Mercimek-Andrews
,
Caroline Nava
(5)
,
Manuela Pendziwiat
,
Richard E. Person
(16)
,
Gian Paolo Ramelli
,
Luiza L.P. Ramos
,
Anita Rauch
(17)
,
Caitlin Reavey
,
Alessandra Renieri
(18)
,
Angelika Riess
,
Amarilis Sanchez-Valle
,
Shifteh Sattar
,
Carol Saunders
,
Niklas Schwarz
,
Thomas Smol
(19)
,
Myriam Srour
,
Katharina Steindl
,
Steffen Syrbe
,
Jenny Taylor
(20)
,
Aida Telegrafi
(21)
,
Isabelle Thiffault
,
Doris Trauner
,
Helio van Der Linden
,
Silvana van Koningsbruggen
(22)
,
Laurent Villard
(23)
,
Ida Vogel
(24)
,
Yvonne Weber
,
Ingrid Wentzensen
(21)
,
Elysa Widjaja
,
Jaroslav Zak
,
Samantha Baxter
,
Lance H Rodan
(25)
,
Jeremy Mcrae
,
Stephen Clayton
,
Tomas Fitzgerald
(26)
,
Joanna Kaplanis
,
Elena Prigmore
,
Diana Rajan
,
Alejandro Sifrim
,
Stuart Aitken
,
Nadia Akawi
,
Mohsan S Alvi
(27)
,
Kirsty Ambridge
,
Daniel Barrett
,
Tanya Bayzetinova
,
Philip D Jones
(28)
,
Wendy Jones
,
Daniel King
(29)
,
Netravathi Krishnappa
,
Laura Mason
,
Tarjinder Singh
,
Adrian Tivey
,
Munaza Ahmed
(30)
,
Uruj Anjum
,
Hayley Archer
,
Ruth Armstrong
(31)
,
Jana Awada
,
Meena Balasubramanian
(32)
,
Siddharth Banka
(33)
,
Diana Baralle
(34)
,
Angela Barnicoat
(35)
,
Paul Batstone
,
David Baty
,
Chris Bennett
(36)
,
Jonathan Berg
(37)
,
Birgitta Bernhard
,
A. Paul Bevan
,
Maria Bitner-Glindzicz
(35)
,
Edward Blair
(38)
,
Moira Blyth
,
David Bohanna
,
Louise Bourdon
,
David Bourn
,
Lisa Bradley
,
Angela F. Brady
(39)
,
Simon Brent
,
Carole Brewer
(40)
,
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David Bunyan
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John Burn
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(41)
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(42)
,
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(43)
,
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(44)
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(45)
,
Nicola Cooper
,
Helen Cox
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Lara Cresswell
(46)
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Gareth Cross
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Yanick Crow
(47)
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Mariella D’alessandro
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Tabib Dabir
(48)
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(49)
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(50)
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John Dean
(51)
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(45)
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(52)
,
Angus Dobbie
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(53)
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(54)
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Carina Donnelly
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Angela Douglas
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Sofia Douzgou
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Alexis Duncan
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Jacqueline Eason
(55)
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(56)
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(57)
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(58)
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(59)
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(44)
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(60)
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(61)
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(62)
,
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(63)
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(64)
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(65)
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(66)
,
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(67)
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(68)
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(69)
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(70)
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(71)
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(72)
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(33)
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(76)
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(77)
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(67)
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,
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(131)
,
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,
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(44)
,
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(102)
,
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(114)
1
Department of Medicine 1
2 Center for Medical Genetics
3 ISTC, CNR - Istituto di Scienze e Tecnologie della Cognizione, Consiglio Nazionale delle Ricerche
4 SBR - Station biologique de Roscoff [Roscoff]
5 CHU Pitié-Salpêtrière [AP-HP]
6 Génétique médicale [Centre Hospitalier de Vannes]
7 Department of Pediatrics
8 Centre de Génétique Chromosomique [Hôpital Saint Vincent de Paul]
9 IGDR - Institut de Génétique et Développement de Rennes
10 Service de génétique médicale
11 Institute of Human Genetics
12 GRC - Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme
13 CHOP - Children’s Hospital of Philadelphia
14 Service de Génétique Médicale
15 Department of Public Health Sciences
16 Department of Molecular and Human Genetics
17 Institute of Medical Genetics
18 UNICAM - Università degli Studi di Camerino = University of Camerino
19 CHRU Lille - Centre Hospitalier Régional Universitaire [Lille]
20 University of Oxford
21 GeneDx [Gaithersburg, MD, USA]
22 Department of Clinical Genetics (Academic Medical Center, University of Amsterdam)
23 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
24 Department of Clinical Genetics
25 Boston Children's Hospital
26 Wellcome Trust Genome Campus
27 IBME - Institute of Biomedical Engineering [Oxford]
28 Climatic Research Unit
29 Imperial College London
30 St Mary's Hospital
31 East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital
32 Sheffield Children's NHS Foundation Trust
33 Regional Genetic Service, St Mary's Hospital, Manchester
34 Genetics
35 GOSH - Great Ormond Street Hospital for Children [London]
36 Yorkshire Regional Clinical Genetics Service
37 School of Medicine - Molecular and Clinical Medicine [Dundee, UK]
38 Department of Clinical Genetics, Oxford Regional Genetics Service
39 North West Thames Regional Genetics
40 Department of Clinical Genetics
41 Wessex Clinical Genetics Service
42 MFT - Manchester University NHS Foundation Trust
43 West Midlands Regional Genetics Service
44 Our Lady's hospital for Sick Children
45 Guy's Hospital [London]
46 University Hospitals Leicester
47 University of Edinburgh
48 Belfast City Hospital
49 Ferguson-Smith Centre for Clinical Genetics
50 Institute of Medical Genetics, Heath Park, Cardiff
51 The London Clinic
52 Nottingham City Hospital
53 Clinical Genetics Department
54 Department of Genetic Medicine
55 Nottingham Clinical Genetics Service
56 Royal Devon and Exeter Foundation Trust
57 Histopathology
58 St. George's Hospital
59 Teesside Genetics Unit
60 Kansas State University
61 Liverpool Women's NHS Foundation Trust
62 Department of Medical Genetics
63 North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow
64 Department of Clinical Genetics
65 Ninewells Hospital and Medical School [Dundee]
66 ACoRD - Academic Centre on Rare Diseases
67 Oxford Brookes University
68 IMPLAD - Institute of Medicinal Plant Development
69 Newcastle Upon Tyne Hospitals NHS Trust
70 Service d'explorations fonctionnelles respiratoires [Lille]
71 Department of Computer Science - Trinity College Dublin
72 Department of Clinical Genetics (Sheffield Children’s NHS Foundation Trust)
73 Division of Medical & Molecular Genetics
74 NHSGGC - NHS Greater Glasgow & Clyde [Glasgow]
75 Institute of Medical Genetics
76 Department of Clinical Genetics [Churchill Hospital]
77 Weizmann Institute of Science [Rehovot, Israël]
78 Southampton General Hospital
79 Department of Clinical Genetics
80 Head of the Department of Medical Genetics
81 University of Birmingham [Birmingham]
82 SW Thames Regional Genetics Service, St Georgeâ™s University of London, London
83 IC UM3 (UMR 8104 / U1016) - Institut Cochin
84 All Wales Medical Genetics Services
85 Clinical Genetics Department
86 Central Manchester University Hospitals NHS Foundation Trust
87 UNT - University of North Texas
88 Clinical Genetics
89 Northern Genetics Service
90 United Kingdom Met Office [Exeter]
91 Institute of Medical Genetics (University Hospital of Wales)
92 West Midlands Regional Genetics Laboratory and Clinical Genetics Unit
93 Laboratory of Molecular Genetics
94 Department of Genetics, Cell- and Immunobiology
95 University Hospitals Bristol
96 West Midlands Regional Genetics Service
97 MKT - Marketing
98 Department of Clinical Genetics
99 West of Scotland Genetics Service (Queen Elizabeth University Hospital)
100 Department of Clnical Genetics, Chapel Allerton Hospital
101 Department of Clinical Genetics, Northampton General Hospital, Northampton
102 The Wellcome Trust Sanger Institute [Cambridge]
103 Clinical Genetics
104 Guy's and St Thomas' Hospital [London]
105 School of Computer Science
106 University Hospital Southampton
107 Clinical Genetics Unit
108 Medical Genetics
109 Research and Development
110 Nottingham Regional Genetics Service [Nottingham, UK]
111 University of St Andrews [Scotland]
112 Clinical Genetics Service
113 West Midlands Regional Genetics Unit
114 Department of Neurology
115 Oxford University Hospitals NHS Trust
116 St James's University Hospital
117 Addenbrooke's Hospital
118 Institute of Human Genetics, Newcastle
119 Division of Biological Stress Response [Amsterdam, The Netherlands]
120 Department of Neurology
121 Clinical Genetics Service
122 Johns Hopkins Bloomberg School of Public Health [Baltimore]
123 Clinical Genetics
124 Department of Genetics
125 Molecular Genetics
126 IWK Health Centre
127 North West london hospitals NHS Trust
128 Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow)
129 Birmingham women's hospital, Birmingham
130 Ethox Centre, Department of Public Health and Primary Health Care
131 Department of Clinical Genetics
2 Center for Medical Genetics
3 ISTC, CNR - Istituto di Scienze e Tecnologie della Cognizione, Consiglio Nazionale delle Ricerche
4 SBR - Station biologique de Roscoff [Roscoff]
5 CHU Pitié-Salpêtrière [AP-HP]
6 Génétique médicale [Centre Hospitalier de Vannes]
7 Department of Pediatrics
8 Centre de Génétique Chromosomique [Hôpital Saint Vincent de Paul]
9 IGDR - Institut de Génétique et Développement de Rennes
10 Service de génétique médicale
11 Institute of Human Genetics
12 GRC - Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme
13 CHOP - Children’s Hospital of Philadelphia
14 Service de Génétique Médicale
15 Department of Public Health Sciences
16 Department of Molecular and Human Genetics
17 Institute of Medical Genetics
18 UNICAM - Università degli Studi di Camerino = University of Camerino
19 CHRU Lille - Centre Hospitalier Régional Universitaire [Lille]
20 University of Oxford
21 GeneDx [Gaithersburg, MD, USA]
22 Department of Clinical Genetics (Academic Medical Center, University of Amsterdam)
23 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
24 Department of Clinical Genetics
25 Boston Children's Hospital
26 Wellcome Trust Genome Campus
27 IBME - Institute of Biomedical Engineering [Oxford]
28 Climatic Research Unit
29 Imperial College London
30 St Mary's Hospital
31 East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital
32 Sheffield Children's NHS Foundation Trust
33 Regional Genetic Service, St Mary's Hospital, Manchester
34 Genetics
35 GOSH - Great Ormond Street Hospital for Children [London]
36 Yorkshire Regional Clinical Genetics Service
37 School of Medicine - Molecular and Clinical Medicine [Dundee, UK]
38 Department of Clinical Genetics, Oxford Regional Genetics Service
39 North West Thames Regional Genetics
40 Department of Clinical Genetics
41 Wessex Clinical Genetics Service
42 MFT - Manchester University NHS Foundation Trust
43 West Midlands Regional Genetics Service
44 Our Lady's hospital for Sick Children
45 Guy's Hospital [London]
46 University Hospitals Leicester
47 University of Edinburgh
48 Belfast City Hospital
49 Ferguson-Smith Centre for Clinical Genetics
50 Institute of Medical Genetics, Heath Park, Cardiff
51 The London Clinic
52 Nottingham City Hospital
53 Clinical Genetics Department
54 Department of Genetic Medicine
55 Nottingham Clinical Genetics Service
56 Royal Devon and Exeter Foundation Trust
57 Histopathology
58 St. George's Hospital
59 Teesside Genetics Unit
60 Kansas State University
61 Liverpool Women's NHS Foundation Trust
62 Department of Medical Genetics
63 North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow
64 Department of Clinical Genetics
65 Ninewells Hospital and Medical School [Dundee]
66 ACoRD - Academic Centre on Rare Diseases
67 Oxford Brookes University
68 IMPLAD - Institute of Medicinal Plant Development
69 Newcastle Upon Tyne Hospitals NHS Trust
70 Service d'explorations fonctionnelles respiratoires [Lille]
71 Department of Computer Science - Trinity College Dublin
72 Department of Clinical Genetics (Sheffield Children’s NHS Foundation Trust)
73 Division of Medical & Molecular Genetics
74 NHSGGC - NHS Greater Glasgow & Clyde [Glasgow]
75 Institute of Medical Genetics
76 Department of Clinical Genetics [Churchill Hospital]
77 Weizmann Institute of Science [Rehovot, Israël]
78 Southampton General Hospital
79 Department of Clinical Genetics
80 Head of the Department of Medical Genetics
81 University of Birmingham [Birmingham]
82 SW Thames Regional Genetics Service, St Georgeâ™s University of London, London
83 IC UM3 (UMR 8104 / U1016) - Institut Cochin
84 All Wales Medical Genetics Services
85 Clinical Genetics Department
86 Central Manchester University Hospitals NHS Foundation Trust
87 UNT - University of North Texas
88 Clinical Genetics
89 Northern Genetics Service
90 United Kingdom Met Office [Exeter]
91 Institute of Medical Genetics (University Hospital of Wales)
92 West Midlands Regional Genetics Laboratory and Clinical Genetics Unit
93 Laboratory of Molecular Genetics
94 Department of Genetics, Cell- and Immunobiology
95 University Hospitals Bristol
96 West Midlands Regional Genetics Service
97 MKT - Marketing
98 Department of Clinical Genetics
99 West of Scotland Genetics Service (Queen Elizabeth University Hospital)
100 Department of Clnical Genetics, Chapel Allerton Hospital
101 Department of Clinical Genetics, Northampton General Hospital, Northampton
102 The Wellcome Trust Sanger Institute [Cambridge]
103 Clinical Genetics
104 Guy's and St Thomas' Hospital [London]
105 School of Computer Science
106 University Hospital Southampton
107 Clinical Genetics Unit
108 Medical Genetics
109 Research and Development
110 Nottingham Regional Genetics Service [Nottingham, UK]
111 University of St Andrews [Scotland]
112 Clinical Genetics Service
113 West Midlands Regional Genetics Unit
114 Department of Neurology
115 Oxford University Hospitals NHS Trust
116 St James's University Hospital
117 Addenbrooke's Hospital
118 Institute of Human Genetics, Newcastle
119 Division of Biological Stress Response [Amsterdam, The Netherlands]
120 Department of Neurology
121 Clinical Genetics Service
122 Johns Hopkins Bloomberg School of Public Health [Baltimore]
123 Clinical Genetics
124 Department of Genetics
125 Molecular Genetics
126 IWK Health Centre
127 North West london hospitals NHS Trust
128 Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow)
129 Birmingham women's hospital, Birmingham
130 Ethox Centre, Department of Public Health and Primary Health Care
131 Department of Clinical Genetics
Anne O’donnell-Luria
- Function : Author
Lynn Pais
- Function : Author
Víctor Faundes
- Function : Author
Jordan Wood
- Function : Author
Abigail Sveden
- Function : Author
Victor Luria
- Function : Author
Andrea Accogli
- Function : Author
Kimberly Amburgey
- Function : Author
Silvia Azzarello-Burri
- Function : Author
Alice Basinger
- Function : Author
Lynne Bird
- Function : Author
Rebecca Buchert
- Function : Author
Sophia Ceulemans
- Function : Author
Lisa Culliton
- Function : Author
Aurora Currò
- Function : Author
Saga Elise Eiset
- Function : Author
Luis Escobar
- Function : Author
Mona Hashim
- Function : Author
Solveig Heide
- Function : Author
- PersonId : 1012475
Raul Heredia
- Function : Author
Amy Jonasson
- Function : Author
Pascal Joset
- Function : Author
Boris Keren
- Function : Author
- PersonId : 764775
- ORCID : 0000-0001-6172-8247
Fernando Kok
- Function : Author
Hester Kroes
- Function : Author
Alinoë Lavillaureix
- Function : Author
Xin Lu
- Function : Author
- PersonId : 775398
- ORCID : 0000-0002-6228-1480
- IdRef : 258563117
Saskia Maas
- Function : Author
Gustavo H.B. Maegawa
- Function : Author
Carlo L.M. Marcelis
- Function : Author
Paul Mark
- Function : Author
Marcelo Masruha
- Function : Author
Heather Mclaughlin
- Function : Author
Kirsty Mcwalter
- Function : Author
- PersonId : 791598
- ORCID : 0000-0002-1654-9036
Esther Melchinger
- Function : Author
Saadet Mercimek-Andrews
- Function : Author
Caroline Nava
- Function : Author
- PersonId : 765521
- ORCID : 0000-0003-1272-0518
Manuela Pendziwiat
- Function : Author
Gian Paolo Ramelli
- Function : Author
Luiza L.P. Ramos
- Function : Author
Caitlin Reavey
- Function : Author
Alessandra Renieri
- Function : Author
- PersonId : 764776
- ORCID : 0000-0002-0846-9220
Angelika Riess
- Function : Author
Amarilis Sanchez-Valle
- Function : Author
Shifteh Sattar
- Function : Author
Carol Saunders
- Function : Author
Niklas Schwarz
- Function : Author
Myriam Srour
- Function : Author
Katharina Steindl
- Function : Author
Steffen Syrbe
- Function : Author
Isabelle Thiffault
- Function : Author
- PersonId : 791599
- ORCID : 0000-0001-7987-6731
Doris Trauner
- Function : Author
Helio van Der Linden
- Function : Author
Laurent Villard
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Ida Vogel
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Yvonne Weber
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Elysa Widjaja
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Jeremy Mcrae
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Stephen Clayton
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Joanna Kaplanis
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Elena Prigmore
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Diana Rajan
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Alejandro Sifrim
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Stuart Aitken
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Nadia Akawi
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Kirsty Ambridge
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Daniel Barrett
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Tanya Bayzetinova
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Netravathi Krishnappa
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Laura Mason
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Tarjinder Singh
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Adrian Tivey
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Uruj Anjum
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Hayley Archer
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Jana Awada
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Paul Batstone
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David Baty
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Birgitta Bernhard
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Moira Blyth
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David Bohanna
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David Bourn
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Simon Brent
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Kate Brunstrom
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John Burn
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Kate Chandler
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Elena Chatzimichali
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Deirdre Cilliers
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Angus Clarke
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Susan Clasper
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Virginia Clowes
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Irina Colgiu
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Morag Collinson
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Nicola Cooper
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Mariella D’alessandro
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Dylan de Vries
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Gemma Devlin
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Angus Dobbie
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Deirdre Donnelly
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Carina Donnelly
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Angela Douglas
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Sofia Douzgou
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Alexis Duncan
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Karenza Evans
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Sarah Everest
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Tina Fendick
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Carol Gardiner
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Harinder Gill
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Emma Gray
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Philip Greene
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Lynn Greenhalgh
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Victoria Harrison
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Rose Hawkins
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Stephen Hellens
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Sarah Hewitt
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Lucy Hildyard
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Emma Hobson
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Simon Holden
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Susan Holder
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Georgina Hollingsworth
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Tessa Homfray
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Jane Hurst
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Ben Hutton
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Stuart Ingram
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Melita Irving
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Lily Islam
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Joanna Jarvis
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Lucy Jenkins
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Elizabeth Jones
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Beckie Kaemba
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Bronwyn Kerr
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Esther Kinning
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Gail Kirby
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Claire Kirk
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Emma Kivuva
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Alison Kraus
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Dhavendra Kumar
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Caroline Langman
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Cheryl Longman
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Gordon Lowther
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Alex Magee
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Sahar Mansour
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Karen Marks
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Una Maye
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Vivienne Mcconnell
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Kirsten Mckay
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Catherine Mcwilliam
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Kay Metcalfe
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Zosia Miedzybrodzka
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Emma Miles
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Hood Mugalaasi
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Victoria Murday
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Swati Naik
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Louise Nevitt
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Andrew Norman
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Rosie O’shea
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Caroline Ogilvie
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Soo-Mi Park
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Stewart Payne
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Daniel Perrett
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Julie Phipps
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Martin Pollard
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Caroline Pottinger
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Joanna Poulton
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Norman Pratt
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Katrina Prescott
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Abigail Pridham
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Annie Procter
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Hellen Purnell
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Josh Randall
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Lucy Raymond
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Debbie Rice
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Alison Ross
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Shalaka Samant
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Susann Schweiger
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Ingrid Scurr
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Ann Selby
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Anneke Seller
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Cheryl Sequeira
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Emma Shearing
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Roldan Singzon
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Zara Skitt
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Audrey Smith
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Linda Sneddon
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Helen Stewart
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Vivienne Sutton
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Ganesh Jawahar Swaminathan
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Kate Tatton-Brown
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Cat Taylor
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Rohan Taylor
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Jenny Thomson
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Susan Tomkins
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Audrey Torokwa
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Claire Turner
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Peter Turnpenny
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Carolyn Tysoe
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Vinod Varghese
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Parthiban Vijayarangakannan
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Sarah Wallwark
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Jonathon Waters
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Astrid Weber
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Diana Wellesley
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Sara Widaa
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Sarah Wilcox
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Emily Wilkinson
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Nicola Williams
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Louise Wilson
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Geoff Woods
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Christopher Wragg
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Michael Wright
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Laura Yates
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Michael Yau
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Chris Nellåker
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Michael Parker
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Caroline Wright
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David Fitzpatrick
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