Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author:

O’Donnell-Luria Anne H.,Pais Lynn S.,Faundes Víctor,Wood Jordan C.,Sveden Abigail,Luria Victor,Abou Jamra Rami,Accogli Andrea,Amburgey Kimberly,Anderlid Britt Marie,Azzarello-Burri Silvia,Basinger Alice A.,Bianchini Claudia,Bird Lynne M.,Buchert Rebecca,Carre Wilfrid,Ceulemans Sophia,Charles Perrine,Cox Helen,Culliton Lisa,Currò Aurora,Demurger Florence,Dowling James J.,Duban-Bedu Benedicte,Dubourg Christèle,Eiset Saga Elise,Escobar Luis F.,Ferrarini Alessandra,Haack Tobias B.,Hashim Mona,Heide Solveig,Helbig Katherine L.,Helbig Ingo,Heredia Raul,Héron Delphine,Isidor Bertrand,Jonasson Amy R.,Joset Pascal,Keren Boris,Kok Fernando,Kroes Hester Y.,Lavillaureix Alinoë,Lu Xin,Maas Saskia M.,Maegawa Gustavo H.B.,Marcelis Carlo L.M.,Mark Paul R.,Masruha Marcelo R.,McLaughlin Heather M.,McWalter Kirsty,Melchinger Esther U.,Mercimek-Andrews Saadet,Nava Caroline,Pendziwiat Manuela,Person Richard,Ramelli Gian Paolo,Ramos Luiza L.P.,Rauch Anita,Reavey Caitlin,Renieri Alessandra,Rieß Angelika,Sanchez-Valle Amarilis,Sattar Shifteh,Saunders Carol,Schwarz Niklas,Smol Thomas,Srour Myriam,Steindl Katharina,Syrbe Steffen,Taylor Jenny C.,Telegrafi Aida,Thiffault Isabelle,Trauner Doris A.,van der Linden Helio,van Koningsbruggen Silvana,Villard Laurent,Vogel Ida,Vogt Julie,Weber Yvonne G.,Wentzensen Ingrid M.,Widjaja Elysa,Zak Jaroslav,Baxter Samantha,Banka Siddharth,Rodan Lance H.,McRae Jeremy F.,Clayton Stephen,Fitzgerald Tomas W.,Kaplanis Joanna,Prigmore Elena,Rajan Diana,Sifrim Alejandro,Aitken Stuart,Akawi Nadia,Alvi Mohsan,Ambridge Kirsty,Barrett Daniel M.,Bayzetinova Tanya,Jones Philip,Jones Wendy D.,King Daniel,Krishnappa Netravathi,Mason Laura E.,Singh Tarjinder,Tivey Adrian R.,Ahmed Munaza,Anjum Uruj,Archer Hayley,Armstrong Ruth,Awada Jana,Balasubramanian Meena,Banka Siddharth,Baralle Diana,Barnicoat Angela,Batstone Paul,Baty David,Bennett Chris,Berg Jonathan,Bernhard Birgitta,Bevan A. Paul,Bitner-Glindzicz Maria,Blair Edward,Blyth Moira,Bohanna David,Bourdon Louise,Bourn David,Bradley Lisa,Brady Angela,Brent Simon,Brewer Carole,Brunstrom Kate,Bunyan David J.,Burn John,Canham Natalie,Castle Bruce,Chandler Kate,Chatzimichali Elena,Cilliers Deirdre,Clarke Angus,Clasper Susan,Clayton-Smith Jill,Clowes Virginia,Coates Andrea,Cole Trevor,Colgiu Irina,Collins Amanda,Collinson Morag N.,Connell Fiona,Cooper Nicola,Cox Helen,Cresswell Lara,Cross Gareth,Crow Yanick,D’Alessandro Mariella,Dabir Tabib,Davidson Rosemarie,Davies Sally,de Vries Dylan,Dean John,Deshpande Charu,Devlin Gemma,Dixit Abhijit,Dobbie Angus,Donaldson Alan,Donnai Dian,Donnelly Deirdre,Donnelly Carina,Douglas Angela,Douzgou Sofia,Duncan Alexis,Eason Jacqueline,Ellard Sian,Ellis Ian,Elmslie Frances,Evans Karenza,Everest Sarah,Fendick Tina,Fisher Richard,Flinter Frances,Foulds Nicola,Fry Andrew,Fryer Alan,Gardiner Carol,Gaunt Lorraine,Ghali Neeti,Gibbons Richard,Gill Harinder,Goodship Judith,Goudie David,Gray Emma,Green Andrew,Greene Philip,Greenhalgh Lynn,Gribble Susan,Harrison Rachel,Harrison Lucy,Harrison Victoria,Hawkins Rose,He Liu,Hellens Stephen,Henderson Alex,Hewitt Sarah,Hildyard Lucy,Hobson Emma,Holden Simon,Holder Muriel,Holder Susan,Hollingsworth Georgina,Homfray Tessa,Humphreys Mervyn,Hurst Jane,Hutton Ben,Ingram Stuart,Irving Melita,Islam Lily,Jackson Andrew,Jarvis Joanna,Jenkins Lucy,Johnson Diana,Jones Elizabeth,Josifova Dragana,Joss Shelagh,Kaemba Beckie,Kazembe Sandra,Kelsell Rosemary,Kerr Bronwyn,Kingston Helen,Kini Usha,Kinning Esther,Kirby Gail,Kirk Claire,Kivuva Emma,Kraus Alison,Kumar Dhavendra,Kumar V. K. Ajith,Lachlan Katherine,Lam Wayne,Lampe Anne,Langman Caroline,Lees Melissa,Lim Derek,Longman Cheryl,Lowther Gordon,Lynch Sally A.,Magee Alex,Maher Eddy,Male Alison,Mansour Sahar,Marks Karen,Martin Katherine,Maye Una,McCann Emma,McConnell Vivienne,McEntagart Meriel,McGowan Ruth,McKay Kirsten,McKee Shane,McMullan Dominic J.,McNerlan Susan,McWilliam Catherine,Mehta Sarju,Metcalfe Kay,Middleton Anna,Miedzybrodzka Zosia,Miles Emma,Mohammed Shehla,Montgomery Tara,Moore David,Morgan Sian,Morton Jenny,Mugalaasi Hood,Murday Victoria,Murphy Helen,Naik Swati,Nemeth Andrea,Nevitt Louise,Newbury-Ecob Ruth,Norman Andrew,O’Shea Rosie,Ogilvie Caroline,Ong Kai-Ren,Park Soo-Mi,Parker Michael J.,Patel Chirag,Paterson Joan,Payne Stewart,Perrett Daniel,Phipps Julie,Pilz Daniela T.,Pollard Martin,Pottinger Caroline,Poulton Joanna,Pratt Norman,Prescott Katrina,Price Sue,Pridham Abigail,Procter Annie,Purnell Hellen,Quarrell Oliver,Ragge Nicola,Rahbari Raheleh,Randall Josh,Rankin Julia,Raymond Lucy,Rice Debbie,Robert Leema,Roberts Eileen,Roberts Jonathan,Roberts Paul,Roberts Gillian,Ross Alison,Rosser Elisabeth,Saggar Anand,Samant Shalaka,Sampson Julian,Sandford Richard,Sarkar Ajoy,Schweiger Susann,Scott Richard,Scurr Ingrid,Selby Ann,Seller Anneke,Sequeira Cheryl,Shannon Nora,Sharif Saba,Shaw-Smith Charles,Shearing Emma,Shears Debbie,Sheridan Eamonn,Simonic Ingrid,Singzon Roldan,Skitt Zara,Smith Audrey,Smith Kath,Smithson Sarah,Sneddon Linda,Splitt Miranda,Squires Miranda,Stewart Fiona,Stewart Helen,Straub Volker,Suri Mohnish,Sutton Vivienne,Swaminathan Ganesh Jawahar,Sweeney Elizabeth,Tatton-Brown Kate,Taylor Cat,Taylor Rohan,Tein Mark,Temple I. Karen,Thomson Jenny,Tischkowitz Marc,Tomkins Susan,Torokwa Audrey,Treacy Becky,Turner Claire,Turnpenny Peter,Tysoe Carolyn,Vandersteen Anthony,Varghese Vinod,Vasudevan Pradeep,Vijayarangakannan Parthiban,Vogt Julie,Wakeling Emma,Wallwark Sarah,Waters Jonathon,Weber Astrid,Wellesley Diana,Whiteford Margo,Widaa Sara,Wilcox Sarah,Wilkinson Emily,Williams Denise,Williams Nicola,Wilson Louise,Woods Geoff,Wragg Christopher,Wright Michael,Yates Laura,Yau Michael,Nellåker Chris,Parker Michael,Firth Helen V.,Wright Caroline F.,FitzPatrick David R.,Barrett Jeffrey C.,Hurles Matthew E.

Funder

National Institutes of Health’s National Institute of Child Health and Human Development

NICHD

Boston Children’s Hospital Faculty Development Fellowship

National Human Genome Research Institute

Broad Center for Mendelian Genomics

Chile’s National Commission for Scientific and Technological Research

CONICYT

German Research Society

Children's Hospital of Philadelphia

University of Kiel

Dietmar-Hopp-Stiftung

Health Innovation Challenge Fund

National Institute for Health Research

Comprehensive Clinical Research Network

Skaggs-Oxford Scholarship

Cambridge South REC

Republic of Ireland

Department of Health

Wellcome Sanger Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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