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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 14 Fernando Kok Hester Kroes Alinoë Lavillaureix Xin Lu 16 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 14 Manuela Pendziwiat Richard Person 17 Gian Paolo Ramelli Luiza L.P. Ramos Anita Rauch 18 Caitlin Reavey Alessandra Renieri 19 Angelika Rieß Amarilis Sanchez-Valle Shifteh Sattar Carol Saunders Niklas Schwarz Thomas Smol 20 Myriam Srour Katharina Steindl Steffen Syrbe Jenny Taylor 21 Aida Telegrafi 22 Isabelle Thiffault Doris Trauner Helio van der Linden Silvana van Koningsbruggen 23 Laurent Villard 24 Ida Vogel 25 Yvonne Weber Ingrid Wentzensen 22 Elysa Widjaja Jaroslav Zak Samantha Baxter Lance Rodan 26, * Jeremy Mcrae Stephen Clayton Tomas Fitzgerald 27 Joanna Kaplanis Elena Prigmore Diana Rajan Alejandro Sifrim Stuart Aitken Nadia Akawi Mohsan Alvi 28 Kirsty Ambridge Daniel Barrett Tanya Bayzetinova Philip Jones 29 Wendy Jones Daniel King 30 Netravathi Krishnappa Laura Mason Tarjinder Singh Adrian Tivey Munaza Ahmed 31 Uruj Anjum Hayley Archer Ruth Armstrong 32 Jana Awada Meena Balasubramanian 33 Siddharth Banka 34 Diana Baralle 35 Angela Barnicoat 36 Paul Batstone David Baty Chris Bennett 37 Jonathan Berg 38 Birgitta Bernhard A. Paul Bevan Maria Bitner-Glindzicz 36 Edward Blair 39 Moira Blyth David Bohanna Louise Bourdon David Bourn Lisa Bradley Angela Brady 40 Simon Brent Carole Brewer 41 Kate Brunstrom David Bunyan John Burn Natalie Canham Bruce Castle 42 Kate Chandler Elena Chatzimichali Deirdre Cilliers Angus Clarke Susan Clasper Jill Clayton-Smith 43 Virginia Clowes Andrea Coates Trevor Cole 44 Irina Colgiu Amanda Collins 45 Morag Collinson Fiona Connell 46 Nicola Cooper Helen Cox Lara Cresswell 47 Gareth Cross Yanick Crow 48 Mariella D’alessandro Tabib Dabir 49 Rosemarie Davidson 50 Sally Davies 51 Dylan de Vries John Dean 52 Charu Deshpande 46 Gemma Devlin Abhijit Dixit 53 Angus Dobbie Alan Donaldson 54 Dian Donnai 55 Deirdre Donnelly Carina Donnelly Angela Douglas Sofia Douzgou Alexis Duncan Jacqueline Eason 56 Sian Ellard 57 Ian Ellis 58 Frances Elmslie 59 Karenza Evans Sarah Everest Tina Fendick Richard Fisher 60 Frances Flinter Nicola Foulds 45 Andrew Fry 61 Alan Fryer 62 Carol Gardiner Lorraine Gaunt 63 Neeti Ghali 64 Richard Gibbons Harinder Gill Judith Goodship 65 David Goudie 66 Emma Gray Andrew Green 67 Philip Greene Lynn Greenhalgh Susan Gribble Rachel Harrison 68 Lucy Harrison Victoria Harrison Rose Hawkins Liu He 69 Stephen Hellens Alex Henderson 70 Sarah Hewitt Lucy Hildyard Emma Hobson Simon Holden Muriel Holder 71 Susan Holder Georgina Hollingsworth Tessa Homfray Mervyn Humphreys Jane Hurst Ben Hutton Stuart Ingram Melita Irving Lily Islam Andrew Jackson 72 Joanna Jarvis Lucy Jenkins Diana Johnson 73 Elizabeth Jones Dragana Josifova 74 Shelagh Joss 75 Beckie Kaemba Sandra Kazembe Rosemary Kelsell Bronwyn Kerr 34 Helen Kingston 76 Usha Kini 77 Esther Kinning Gail Kirby Claire Kirk Emma Kivuva Alison Kraus Dhavendra Kumar V. Kumar 78 Katherine Lachlan 79 Wayne Lam 45 Anne Lampe 80 Caroline Langman Melissa Lees 81 Derek Lim 82 Cheryl Longman Gordon Lowther Sally Lynch Alex Magee Eddy Maher Alison Male Sahar Mansour 83 Karen Marks Katherine Martin 84 Una Maye Emma Mccann 85 Vivienne Mcconnell Meriel Mcentagart 81 Ruth Mcgowan 65 Kirsten Mckay Shane Mckee 76 Dominic Mcmullan 86 Susan Mcnerlan Catherine Mcwilliam Sarju Mehta Kay Metcalfe 87 Anna Middleton 88 Zosia Miedzybrodzka Emma Miles Shehla Mohammed 89 Tara Montgomery 90 David Moore 91 Sian Morgan 92 Jenny Morton 93 Hood Mugalaasi Victoria Murday Helen Murphy 94 Swati Naik Andrea Nemeth 95 Louise Nevitt Ruth Newbury-Ecob 96 Andrew Norman Rosie O’shea Caroline Ogilvie Kai-Ren Ong 97 Soo-Mi Park Chirag Patel 98 Joan Paterson 99 Stewart Payne Daniel Perrett Julie Phipps Daniela Pilz 100 Martin Pollard Caroline Pottinger Joanna Poulton Norman Pratt Katrina Prescott 101 Sue Price 102 Abigail Pridham Annie Procter Hellen Purnell Oliver Quarrell Nicola Ragge 68 Raheleh Rahbari 103 Josh Randall Julia Rankin 104 Lucy Raymond Debbie Rice Leema Robert 105 Eileen Roberts Jonathan Roberts 106 Paul Roberts 107 Gillian Roberts Alison Ross Elisabeth Rosser Anand Saggar 108 Shalaka Samant Julian Sampson 109 Richard Sandford 110 Ajoy Sarkar 111 Susann Schweiger Richard Scott 112 Ingrid Scurr Ann Selby Anneke Seller Cheryl Sequeira Nora Shannon 113 Saba Sharif 114 Charles Shaw-Smith 115 Emma Shearing Debbie Shears 116 Eamonn Sheridan 117 Ingrid Simonic 118 Roldan Singzon Zara Skitt Audrey Smith Kath Smith 33 Sarah Smithson 96 Linda Sneddon Miranda Splitt 119 Miranda Squires Fiona Stewart 120 Helen Stewart Volker Straub 121 Mohnish Suri 122 Vivienne Sutton Ganesh Jawahar Swaminathan Elizabeth Sweeney 123 Kate Tatton-Brown Cat Taylor Rohan Taylor Mark Tein 124 I. Karen Temple 42 Jenny Thomson Marc Tischkowitz 125 Susan Tomkins Audrey Torokwa Becky Treacy 126 Claire Turner Peter Turnpenny Carolyn Tysoe Anthony Vandersteen 127 Vinod Varghese Pradeep Vasudevan 47 Parthiban Vijayarangakannan Julie Vogt 82 Emma Wakeling 128 Sarah Wallwark Jonathon Waters Astrid Weber Diana Wellesley Margo Whiteford 129 Sara Widaa Sarah Wilcox Emily Wilkinson Denise Williams 130 Nicola Williams Louise Wilson Geoff Woods Christopher Wragg Michael Wright Laura Yates Michael Yau Chris Nellåker Michael Parker 131 Helen Firth 132 Caroline Wright David Fitzpatrick 45 Jeffrey Barrett 103 Matthew Hurles 115
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Submitted on : Wednesday, December 18, 2019 - 11:34:40 AM
Last modification on : Tuesday, April 26, 2022 - 1:54:09 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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