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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 Bianchini 3 Lynne Bird Rebecca Buchert Wilfrid Carré 4 Sophia Ceulemans Perrine Charles 5 Lisa Culliton Aurora Currò Florence Demurger 6 James Dowling 7 Bénédicte Duban-Bedu 8 Christèle Dubourg 9 Saga Elise Eiset Luis Escobar Alessandra Ferrarini 10 Tobias Haack 11 Mona Hashim Solveig Heide 12 Katherine Helbig 13 Ingo Helbig 13 Raul Heredia Delphine Héron 14 Bertrand Isidor 15 Amy Jonasson Pascal Joset Boris Keren 16 Fernando Kok Hester Kroes Alinoë Lavillaureix Xin Lu 17 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 16 Manuela Pendziwiat Richard Person 18 Gian Paolo Ramelli Luiza L.P. Ramos Anita Rauch 19 Caitlin Reavey Alessandra Renieri 20 Angelika Rieß Amarilis Sanchez-Valle Shifteh Sattar Carol Saunders Niklas Schwarz Thomas Smol 21 Myriam Srour Katharina Steindl Steffen Syrbe Jenny Taylor 22 Aida Telegrafi 23 Isabelle Thiffault Doris Trauner Helio van der Linden Silvana van Koningsbruggen 24 Laurent Villard 25 Ida Vogel 26 Yvonne Weber Ingrid Wentzensen 23 Elysa Widjaja Jaroslav Zak Samantha Baxter Lance Rodan 27 Jeremy Mcrae Stephen Clayton Tomas Fitzgerald 28 Joanna Kaplanis Elena Prigmore Diana Rajan Alejandro Sifrim Stuart Aitken Nadia Akawi Mohsan Alvi 29 Kirsty Ambridge Daniel Barrett Tanya Bayzetinova Philip Jones 30 Wendy Jones Daniel King 31 Netravathi Krishnappa Laura Mason Tarjinder Singh Adrian Tivey Munaza Ahmed 32 Uruj Anjum Hayley Archer Ruth Armstrong 33 Jana Awada Meena Balasubramanian 34 Siddharth Banka 35 Diana Baralle 36 Angela Barnicoat 37 Paul Batstone David Baty Chris Bennett 38 Jonathan Berg 39 Birgitta Bernhard A. Paul Bevan Maria Bitner-Glindzicz 37 Edward Blair 40 Moira Blyth David Bohanna Louise Bourdon David Bourn Lisa Bradley Angela Brady 41 Simon Brent Carole Brewer 42 Kate Brunstrom David Bunyan John Burn Natalie Canham Bruce Castle 43 Kate Chandler Elena Chatzimichali Deirdre Cilliers Angus Clarke Susan Clasper Jill Clayton-Smith 44 Virginia Clowes Andrea Coates Trevor Cole 45 Irina Colgiu Amanda Collins 46 Morag Collinson Fiona Connell 47 Nicola Cooper Helen Cox Lara Cresswell 48 Gareth Cross Yanick Crow 49 Mariella D’alessandro Tabib Dabir 50 Rosemarie Davidson 51 Sally Davies 52 Dylan de Vries John Dean 53 Charu Deshpande 47 Gemma Devlin Abhijit Dixit 54 Angus Dobbie Alan Donaldson 55 Dian Donnai 56 Deirdre Donnelly Carina Donnelly Angela Douglas Sofia Douzgou Alexis Duncan Jacqueline Eason 57 Sian Ellard 58 Ian Ellis 59 Frances Elmslie 60 Karenza Evans Sarah Everest Tina Fendick Richard Fisher 61 Frances Flinter Nicola Foulds 46 Andrew Fry 62 Alan Fryer 63 Carol Gardiner Lorraine Gaunt 64 Neeti Ghali 65 Richard Gibbons Harinder Gill Judith Goodship 66 David Goudie 67 Emma Gray Andrew Green 68 Philip Greene Lynn Greenhalgh Susan Gribble Rachel Harrison 69 Lucy Harrison Victoria Harrison Rose Hawkins Liu He 70 Stephen Hellens Alex Henderson 71 Sarah Hewitt Lucy Hildyard Emma Hobson Simon Holden Muriel Holder 72 Susan Holder Georgina Hollingsworth Tessa Homfray Mervyn Humphreys Jane Hurst Ben Hutton Stuart Ingram Melita Irving Lily Islam Andrew Jackson 73 Joanna Jarvis Lucy Jenkins Diana Johnson 74 Elizabeth Jones Dragana Josifova 75 Shelagh Joss 76 Beckie Kaemba Sandra Kazembe Rosemary Kelsell Bronwyn Kerr 35 Helen Kingston 77 Usha Kini 78 Esther Kinning Gail Kirby Claire Kirk Emma Kivuva Alison Kraus Dhavendra Kumar V. Kumar 79 Katherine Lachlan 80 Wayne Lam 46 Anne Lampe 81 Caroline Langman Melissa Lees 82 Derek Lim 83 Cheryl Longman Gordon Lowther Sally Lynch Alex Magee Eddy Maher Alison Male Sahar Mansour 84 Karen Marks Katherine Martin 85 Una Maye Emma Mccann 86 Vivienne Mcconnell Meriel Mcentagart 82 Ruth Mcgowan 66 Kirsten Mckay Shane Mckee 77 Dominic Mcmullan 87 Susan Mcnerlan Catherine Mcwilliam Sarju Mehta Kay Metcalfe 88 Anna Middleton 89 Zosia Miedzybrodzka Emma Miles Shehla Mohammed 90 Tara Montgomery 91 David Moore 92 Sian Morgan 93 Jenny Morton 94 Hood Mugalaasi Victoria Murday Helen Murphy 95 Swati Naik Andrea Nemeth 96 Louise Nevitt Ruth Newbury-Ecob 97 Andrew Norman Rosie O’shea Caroline Ogilvie Kai-Ren Ong 98 Soo-Mi Park Chirag Patel 99 Joan Paterson 100 Stewart Payne Daniel Perrett Julie Phipps Daniela Pilz 101 Martin Pollard Caroline Pottinger Joanna Poulton Norman Pratt Katrina Prescott 102 Sue Price 103 Abigail Pridham Annie Procter Hellen Purnell Oliver Quarrell Nicola Ragge 69 Raheleh Rahbari 104 Josh Randall Julia Rankin 105 Lucy Raymond Debbie Rice Leema Robert 106 Eileen Roberts Jonathan Roberts 107 Paul Roberts 108 Gillian Roberts Alison Ross Elisabeth Rosser Anand Saggar 109 Shalaka Samant Julian Sampson 110 Richard Sandford 111 Ajoy Sarkar 112 Susann Schweiger Richard Scott 113 Ingrid Scurr Ann Selby Anneke Seller Cheryl Sequeira Nora Shannon 114 Saba Sharif 115 Charles Shaw-Smith 116 Emma Shearing Debbie Shears 117 Eamonn Sheridan 118 Ingrid Simonic 119 Roldan Singzon Zara Skitt Audrey Smith Kath Smith 34 Sarah Smithson 97 Linda Sneddon Miranda Splitt 120 Miranda Squires Fiona Stewart 121 Helen Stewart Volker Straub 122 Mohnish Suri 123 Vivienne Sutton Ganesh Jawahar Swaminathan Elizabeth Sweeney 124 Kate Tatton-Brown Cat Taylor Rohan Taylor Mark Tein 125 I. Karen Temple 43 Jenny Thomson Marc Tischkowitz 126 Susan Tomkins Audrey Torokwa Becky Treacy 127 Claire Turner Peter Turnpenny Carolyn Tysoe Anthony Vandersteen 128 Vinod Varghese Pradeep Vasudevan 48 Parthiban Vijayarangakannan Julie Vogt 83 Emma Wakeling 129 Sarah Wallwark Jonathon Waters Astrid Weber Diana Wellesley Margo Whiteford 130 Sara Widaa Sarah Wilcox Emily Wilkinson Denise Williams 131 Nicola Williams Louise Wilson Geoff Woods Christopher Wragg Michael Wright Laura Yates Michael Yau Chris Nellåker Michael Parker 132 Helen Firth 133 Caroline Wright David Fitzpatrick 46 Jeffrey Barrett 104 Matthew Hurles 116
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Submitted on : Wednesday, December 18, 2019 - 11:34:40 AM
Last modification on : Tuesday, October 20, 2020 - 1:04:02 PM

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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, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩. ⟨hal-02417518⟩

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