Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy - Aix-Marseille Université Access content directly
Journal Articles American Journal of Human Genetics Year : 2019

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) , Kate Brunstrom , David Bunyan , John Burn , Natalie Canham , Bruce Castle (41) , Kate Chandler , Elena Chatzimichali , Deirdre Cilliers , Angus Clarke , Susan Clasper , Jill Clayton-Smith (42) , Virginia Clowes , Andrea Coates , Trevor Cole (43) , Irina Colgiu , Amanda Collins (44) , Morag Collinson , Fiona Connell (45) , Nicola Cooper , Helen Cox , Lara Cresswell (46) , Gareth Cross , Yanick Crow (47) , Mariella D’alessandro , Tabib Dabir (48) , Rosemarie Davidson (49) , Sally Davies (50) , Dylan de Vries , John Dean (51) , Charu Deshpande (45) , Gemma Devlin , Abhijit Dixit (52) , Angus Dobbie , Alan Donaldson (53) , Dian Donnai (54) , Deirdre Donnelly , Carina Donnelly , Angela Douglas , Sofia Douzgou , Alexis Duncan , Jacqueline Eason (55) , Sian Ellard (56) , Ian Ellis (57) , Frances Elmslie (58) , Karenza Evans , Sarah Everest , Tina Fendick , Richard Fisher (59) , Frances Flinter , Nicola Foulds (44) , Andrew Fry (60) , Alan Fryer (61) , Carol Gardiner , Lorraine Gaunt (62) , Neeti Ghali (63) , Richard Gibbons , Harinder Gill , Judith Goodship (64) , David Goudie (65) , Emma Gray , Andrew Green (66) , Philip Greene , Lynn Greenhalgh , Susan Gribble , Rachel Harrison (67) , Lucy Harrison , Victoria Harrison , Rose Hawkins , Liu He (68) , Stephen Hellens , Alex Henderson (69) , Sarah Hewitt , Lucy Hildyard , Emma Hobson , Simon Holden , Muriel Holder (70) , Susan Holder , Georgina Hollingsworth , Tessa Homfray , Mervyn Humphreys , Jane Hurst , Ben Hutton , Stuart Ingram , Melita Irving , Lily Islam , Andrew Jackson (71) , Joanna Jarvis , Lucy Jenkins , Diana Johnson (72) , Elizabeth Jones , Dragana Josifova (73) , Shelagh Joss (74) , Beckie Kaemba , Sandra Kazembe , Rosemary Kelsell , Bronwyn Kerr (33) , Helen Kingston (75) , Usha Kini (76) , Esther Kinning , Gail Kirby , Claire Kirk , Emma Kivuva , Alison Kraus , Dhavendra Kumar , V. Kumar (77) , Katherine Lachlan (78) , Wayne Lam (44) , Anne Lampe (79) , Caroline Langman , Melissa Lees (80) , Derek Lim (81) , Cheryl Longman , Gordon Lowther , Sally Lynch , Alex Magee , Eddy Maher , Alison Male , Sahar Mansour (82) , Karen Marks , Katherine R. Martin (83) , Una Maye , Emma Mccann (84) , Vivienne Mcconnell , Meriel Mcentagart (80) , Ruth Mcgowan (64) , Kirsten Mckay , Shane Mckee (75) , Dominic Mcmullan (85) , Susan Mcnerlan , Catherine Mcwilliam , Sarju Mehta , Kay Metcalfe (86) , Anna Middleton (87) , Zosia Miedzybrodzka , Emma Miles , Shehla Mohammed (88) , Tara Montgomery (89) , David Moore (90) , Sian M. Morgan (91) , Jenny Morton (92) , Hood Mugalaasi , Victoria Murday , Helen Murphy (93) , Swati Naik , Andrea Nemeth (94) , Louise Nevitt , Ruth Newbury-Ecob (95) , Andrew Norman , Rosie O’shea , Caroline Ogilvie , Kai-Ren Ong (96) , Soo-Mi Park , Chirag Patel (97) , Joan Paterson (98) , Stewart Payne , Daniel Perrett , Julie Phipps , Daniela T. Pilz (99) , Martin Pollard , Caroline Pottinger , Joanna Poulton , Norman Pratt , Katrina Prescott (100) , Sue Price (101) , Abigail Pridham , Annie Procter , Hellen Purnell , Oliver Quarrell , Nicola Ragge (67) , Raheleh Rahbari (102) , Josh Randall , Julia Rankin (103) , Lucy Raymond , Debbie Rice , Leema Robert (104) , Eileen Roberts , Jonathan Roberts (105) , Paul Roberts (106) , Gillian Roberts , Alison Ross , Elisabeth Rosser , Anand Saggar (107) , Shalaka Samant , Julian Sampson (108) , Richard Sandford (109) , Ajoy Sarkar (110) , Susann Schweiger , Richard Scott (111) , Ingrid Scurr , Ann Selby , Anneke Seller , Cheryl Sequeira , Nora Shannon (112) , Saba Sharif (113) , Charles Shaw-Smith (114) , Emma Shearing , Debbie Shears (115) , Eamonn Sheridan (116) , Ingrid Simonic (117) , Roldan Singzon , Zara Skitt , Audrey Smith , Kath Smith (32) , Sarah Smithson (95) , Linda Sneddon , Miranda Splitt (118) , Miranda Squires , Fiona Stewart (119) , Helen Stewart , Volker Straub (120) , Mohnish Suri (121) , Vivienne Sutton , Ganesh Jawahar Swaminathan , Elizabeth Sweeney (122) , Kate Tatton-Brown , Cat Taylor , Rohan Taylor , Mark Tein (123) , I. Karen Temple (41) , Jenny Thomson , Marc Tischkowitz (124) , Susan Tomkins , Audrey Torokwa , Becky Treacy (125) , Claire Turner , Peter Turnpenny , Carolyn Tysoe , Anthony A Vandersteen (126) , Vinod Varghese , Pradeep Vasudevan (46) , Parthiban Vijayarangakannan , Julie Vogt (81) , Emma Wakeling (127) , Sarah Wallwark , Jonathon Waters , Astrid Weber , Diana Wellesley , Margo Whiteford (128) , Sara Widaa , Sarah Wilcox , Emily Wilkinson , Denise Williams (129) , Nicola Williams , Louise Wilson , Geoff Woods , Christopher Wragg , Michael Wright , Laura Yates , Michael Yau , Chris Nellåker , Michael Parker (130) , Helen Firth (131) , Caroline Wright , David Fitzpatrick (44) , Jeffrey Barrett (102) , Matthew E. Hurles (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 George’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
Rami Abou Jamra
  • Function : Author
  • PersonId : 915049
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
Wilfrid Carré
  • Function : Author
  • PersonId : 834354
Sophia Ceulemans
  • Function : Author
Lisa Culliton
  • Function : Author
Aurora Currò
  • Function : Author
James J. Dowling
  • Function : Author
  • PersonId : 933901
Saga Elise Eiset
  • Function : Author
Luis Escobar
  • Function : Author
Mona Hashim
  • Function : Author
Raul Heredia
  • Function : Author
Amy Jonasson
  • Function : Author
Pascal Joset
  • Function : Author
Boris Keren
Fernando Kok
  • Function : Author
Hester Kroes
  • Function : Author
Alinoë Lavillaureix
  • Function : Author
Xin Lu
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
Esther Melchinger
  • Function : Author
Saadet Mercimek-Andrews
  • Function : Author
Caroline Nava
Manuela Pendziwiat
  • Function : Author
Gian Paolo Ramelli
  • Function : Author
Luiza L.P. Ramos
  • Function : Author
Caitlin Reavey
  • Function : Author
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
Doris Trauner
  • Function : Author
Helio van Der Linden
  • Function : Author
Ida Vogel
Yvonne Weber
  • Function : Author
Elysa Widjaja
  • Function : Author
Jaroslav Zak
  • Function : Author
Samantha Baxter
  • Function : Author
Lance H Rodan
  • Function : Correspondent author
Jeremy Mcrae
  • Function : Author
Stephen Clayton
  • Function : Author
Tomas Fitzgerald
  • Function : Author
  • PersonId : 904535
Joanna Kaplanis
  • Function : Author
Elena Prigmore
  • Function : Author
Diana Rajan
  • Function : Author
Alejandro Sifrim
  • Function : Author
Stuart Aitken
  • Function : Author
Nadia Akawi
  • Function : Author
Kirsty Ambridge
  • Function : Author
Daniel Barrett
  • Function : Author
Tanya Bayzetinova
  • Function : Author
Philip D Jones
  • Function : Author
  • PersonId : 1013381
Wendy Jones
  • Function : Author
Netravathi Krishnappa
  • Function : Author
Laura Mason
  • Function : Author
Tarjinder Singh
  • Function : Author
Adrian Tivey
  • Function : Author
Munaza Ahmed
  • Function : Author
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Uruj Anjum
  • Function : Author
Hayley Archer
  • Function : Author
Jana Awada
  • Function : Author
Diana Baralle
  • Function : Author
Paul Batstone
  • Function : Author
David Baty
  • Function : Author
Chris Bennett
  • Function : Author
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Birgitta Bernhard
  • Function : Author
A. Paul Bevan
  • Function : Author
Moira Blyth
  • Function : Author
David Bohanna
  • Function : Author
Louise Bourdon
  • Function : Author
David Bourn
  • Function : Author
Lisa Bradley
  • Function : Author
Simon Brent
  • Function : Author
Carole Brewer
  • Function : Author
  • PersonId : 909882
Kate Brunstrom
  • Function : Author
David Bunyan
  • Function : Author
John Burn
  • Function : Author
Natalie Canham
  • Function : Author
Kate Chandler
  • Function : Author
Elena Chatzimichali
  • Function : Author
Deirdre Cilliers
  • Function : Author
Angus Clarke
  • Function : Author
Susan Clasper
  • Function : Author
Virginia Clowes
  • Function : Author
Andrea Coates
  • Function : Author
Trevor Cole
  • Function : Author
  • PersonId : 922693
Irina Colgiu
  • Function : Author
Morag Collinson
  • Function : Author
Fiona Connell
  • Function : Author
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Nicola Cooper
  • Function : Author
Helen Cox
  • Function : Author
Lara Cresswell
  • Function : Author
  • PersonId : 905993
Gareth Cross
  • Function : Author
Yanick Crow
Mariella D’alessandro
  • Function : Author
Dylan de Vries
  • Function : Author
John Dean
  • Function : Author
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Gemma Devlin
  • Function : Author
Angus Dobbie
  • Function : Author
Alan Donaldson
  • Function : Author
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Deirdre Donnelly
  • Function : Author
Carina Donnelly
  • Function : Author
Angela Douglas
  • Function : Author
Sofia Douzgou
  • Function : Author
Alexis Duncan
  • Function : Author
Sian Ellard
  • Function : Author
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Ian Ellis
  • Function : Author
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Frances Elmslie
  • Function : Author
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Karenza Evans
  • Function : Author
Sarah Everest
  • Function : Author
Tina Fendick
  • Function : Author
Richard Fisher
  • Function : Author
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Frances Flinter
  • Function : Author
Carol Gardiner
  • Function : Author
Richard Gibbons
  • Function : Author
Harinder Gill
  • Function : Author
Emma Gray
Philip Greene
  • Function : Author
Lynn Greenhalgh
  • Function : Author
Susan Gribble
  • Function : Author
Rachel Harrison
  • Function : Author
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Lucy Harrison
  • Function : Author
Victoria Harrison
  • Function : Author
Rose Hawkins
  • Function : Author
Stephen Hellens
  • Function : Author
Sarah Hewitt
  • Function : Author
Lucy Hildyard
  • Function : Author
Emma Hobson
  • Function : Author
Simon Holden
  • Function : Author
Susan Holder
  • Function : Author
Georgina Hollingsworth
  • Function : Author
Tessa Homfray
  • Function : Author
Mervyn Humphreys
  • Function : Author
Jane Hurst
  • Function : Author
Ben Hutton
  • Function : Author
Stuart Ingram
  • Function : Author
Melita Irving
  • Function : Author
Lily Islam
  • Function : Author
Joanna Jarvis
  • Function : Author
Lucy Jenkins
  • Function : Author
Elizabeth Jones
  • Function : Author
Beckie Kaemba
  • Function : Author
Sandra Kazembe
  • Function : Author
Rosemary Kelsell
  • Function : Author
Esther Kinning
  • Function : Author
Gail Kirby
  • Function : Author
Claire Kirk
  • Function : Author
Emma Kivuva
  • Function : Author
Alison Kraus
  • Function : Author
Dhavendra Kumar
  • Function : Author
Katherine Lachlan
  • Function : Author
  • PersonId : 888152
Anne Lampe
  • Function : Author
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Caroline Langman
  • Function : Author
Cheryl Longman
  • Function : Author
Gordon Lowther
  • Function : Author
Sally Lynch
  • Function : Author
Alex Magee
  • Function : Author
Eddy Maher
  • Function : Author
Alison Male
  • Function : Author
Karen Marks
  • Function : Author
Katherine R. Martin
  • Function : Author
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Una Maye
  • Function : Author
Emma Mccann
  • Function : Author
  • PersonId : 920633
Vivienne Mcconnell
  • Function : Author
Kirsten Mckay
  • Function : Author
Susan Mcnerlan
  • Function : Author
Catherine Mcwilliam
  • Function : Author
Sarju Mehta
  • Function : Author
Zosia Miedzybrodzka
  • Function : Author
Emma Miles
  • Function : Author
Shehla Mohammed
  • Function : Author
  • PersonId : 922035
Hood Mugalaasi
  • Function : Author
Victoria Murday
  • Function : Author
Swati Naik
  • Function : Author
Louise Nevitt
  • Function : Author
Andrew Norman
  • Function : Author
Rosie O’shea
  • Function : Author
Caroline Ogilvie
  • Function : Author
Soo-Mi Park
  • Function : Author
Chirag Patel
  • Function : Author
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Stewart Payne
  • Function : Author
Daniel Perrett
  • Function : Author
Julie Phipps
  • Function : Author
Martin Pollard
  • Function : Author
Caroline Pottinger
  • Function : Author
Joanna Poulton
  • Function : Author
Norman Pratt
  • Function : Author
Abigail Pridham
  • Function : Author
Annie Procter
  • Function : Author
Hellen Purnell
  • Function : Author
Oliver Quarrell
  • Function : Author
Josh Randall
  • Function : Author
Julia Rankin
  • Function : Author
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Lucy Raymond
  • Function : Author
Debbie Rice
  • Function : Author
Eileen Roberts
  • Function : Author
Gillian Roberts
  • Function : Author
Alison Ross
  • Function : Author
Elisabeth Rosser
  • Function : Author
Anand Saggar
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Shalaka Samant
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Julian Sampson
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Susann Schweiger
  • Function : Author
Ingrid Scurr
  • Function : Author
Ann Selby
  • Function : Author
Anneke Seller
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Cheryl Sequeira
  • Function : Author
Saba Sharif
  • Function : Author
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Charles Shaw-Smith
  • Function : Author
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Emma Shearing
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Eamonn Sheridan
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Ingrid Simonic
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Roldan Singzon
  • Function : Author
Zara Skitt
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Audrey Smith
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Kath Smith
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Linda Sneddon
  • Function : Author
Miranda Splitt
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Miranda Squires
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Helen Stewart
  • Function : Author
Volker Straub
  • Function : Author
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Mohnish Suri
  • Function : Author
  • PersonId : 888990
Vivienne Sutton
  • Function : Author
Ganesh Jawahar Swaminathan
  • Function : Author
Kate Tatton-Brown
  • Function : Author
Cat Taylor
  • Function : Author
Rohan Taylor
  • Function : Author
Mark Tein
  • Function : Author
I. Karen Temple
  • Function : Author
  • PersonId : 874461
Jenny Thomson
  • Function : Author
Susan Tomkins
  • Function : Author
Audrey Torokwa
  • Function : Author
Becky Treacy
  • Function : Author
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Claire Turner
  • Function : Author
Peter Turnpenny
  • Function : Author
Carolyn Tysoe
  • Function : Author
Vinod Varghese
  • Function : Author
Pradeep Vasudevan
  • Function : Author
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Parthiban Vijayarangakannan
  • Function : Author
Julie Vogt
  • Function : Author
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Sarah Wallwark
  • Function : Author
Jonathon Waters
  • Function : Author
Astrid Weber
  • Function : Author
Diana Wellesley
  • Function : Author
Sara Widaa
  • Function : Author
Sarah Wilcox
  • Function : Author
Emily Wilkinson
  • Function : Author
Denise Williams
  • Function : Author
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Nicola Williams
  • Function : Author
Louise Wilson
  • Function : Author
Geoff Woods
  • Function : Author
Christopher Wragg
  • Function : Author
Michael Wright
  • Function : Author
Laura Yates
  • Function : Author
Michael Yau
  • Function : Author
Chris Nellåker
  • Function : Author
Caroline Wright
  • Function : Author

Dates and versions

hal-02417518 , version 1 (18-12-2019)

Identifiers

Cite

Anne O’donnell-Luria, Lynn Pais, Víctor Faundes, Jordan Wood, Abigail Sveden, et al.. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩. ⟨hal-02417518⟩
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