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o ㅋ ㄱ ㅅ ㅈ ㅌ ㄷ 촉 ㄴ ㅎ ㅂ ㅃ ㅁ 야 ㄹ 와
ㅏ あ
a		 ぁ か
ka		 が
ga		 さ
sa		 ざ
za		 た
ta		 だ
da		 な
na		 は
ha		 ば
ba		 ぱ
pa		 ま
ma		 や
ya		 ゃ
lya		 ら
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wa		 ゎ
lwa		 ん
n
l い
i		 ぃ き
ki		 ぎ
gi		 し
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zi		 ち
ti		 ぢ
di		 に
ni		 ひ
hi		 び
bi		 ぴ
pi		 み
mi		 り
ri
ㅜ う
u		 ぅ く
ku		 ぐ
gu		 す
su		 ず
zu		 つ
tu		 づ
du		 っ ぬ
nu		 ふ
hu		 ぶ
bu		 ぷ
pu		 む
mu		 ゆ
yu		 ゅ
lyu		 る
ru
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e		 ぇ け
ke		 げ
ge		 せ
se		 ぜ
ze		 て
te		 で
de		 ね
ne		 へ
he		 べ
be		 ぺ
pe		 め
me		 れ
re
ㅗ お
o		 ぉ こ
ko		 ご
go		 そ
so		 ぞ
zo		 と
to		 ど
do		 の
no		 ほ
ho		 ぼ
bo		 ぽ
po		 も
mo		 よ
yo		 ょ
lyo		 ろ
ro		 を
wo
o ㅋ ㄱ ㅅ ㅈ ㅌ ㄷ 촉 ㄴ ㅎ ㅂ ㅃ ㅁ 야 ㄹ 와
ㅏ ア
a		 ァ カ
ka		 ガ
ga		 サ
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za		 タ
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da		 ナ
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pa		 マ
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vu
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po		 モ
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yo		 ョ
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독일어
ä Ä ö Ö ü Ü ß                
프랑스어
á à Á À é è É È ç Ç ê        
스페인어
à á Á é É í Í Ó ó Ú ú Ñ ñ ä Ä
Α Β Γ Δ Ε Ζ Η Θ Ι Κ Λ Μ  
Ν Ξ Ο Π Ρ Σ Τ Υ Φ Χ Ψ Ω  
α β γ δ ε ζ η θ ι κ λ μ  
ν ξ ο π ρ ς σ τ υ φ χ ψ ω
À Á Â Ã Ä Å Æ Ç È É Ê Ë Ì Í Î Ï
Ð Ñ Ò Ó Ô Õ Ö Ø Ù Ú Û Ü Ý Þ ß  
à á â ã ä å æ ç è é ê ë ì í î ï
ð ñ ò ó ô õ ö ø ù ú û ü ý þ ÿ  
А Б В Г Д Е Ё Ж З И Й К Л М Н О П
Р С Т У Ф Х Ц Ч Ш Щ Ъ Ы Ь Э Ю Я  
а б в г д е ё ж з и й к л м н о п
р с т у ф х ц ч ш щ ъ ы ь э ю я  
ⅰ ⅱ ⅲ ⅳ ⅴ ⅵ ⅶ ⅷ ⅸ ⅹ Ⅰ Ⅱ Ⅲ Ⅳ Ⅴ Ⅵ Ⅶ Ⅷ Ⅸ Ⅹ
ㅥ ㅦ ㅧ ㅨ ㅩ ㅪ ㅫ ㅬ ㅭ ㅮ ㅯ ㅰ ㅱ ㅲ ㅳ ㅴ ㅵ
ㅶ ㅷ ㅸ ㅹ ㅺ ㅻ ㅼ ㅽ ㅾ ㅿ ㆀ ㆁ ㆂ ㆃ ㆄ ㆅ ㆆ
ㆇ ㆈ ㆉ ㆊ ㆋ ㆌ ㆍ ㆎ                  
′ ″ ℃ Å ￠ ￡ ￥ ¤ ℉ ‰ ＄ ％ Ｆ ￦ ㎕ ㎖ ㎗ ℓ ㎘ ㏄
㎣ ㎤ ㎥ ㎦ ㎙ ㎚ ㎛ ㎜ ㎝ ㎞ ㎟ ㎠ ㎡ ㎢ ㏊ ㎍ ㎎ ㎏    
㏏ ㎈ ㎉ ㏈ ㎧ ㎨ ㎰ ㎱ ㎲ ㎳ ㎴ ㎵ ㎶ ㎷ ㎸ ㎹ ㎀ ㎁    
㎂ ㎃ ㎄ ㎺ ㎻ ㎽ ㎾ ㎿ ㎐ ㎑ ㎒ ㎓ ㎔ Ω ㏀ ㏁ ㎊ ㎋    
㎌ ㏖ ㏅ ㎭ ㎮ ㎯ ㏛ ㎩ ㎪ ㎫ ㎬ ㏝ ㏐ ㏓ ㏃ ㏉ ㏜ ㏆    
± × ÷ ≠ ≤ ≥ ∞ ∴ ∠ ⊥ ⌒ ∂ ∇ ≡ ≒
≪ ≫ √ ∽ ∝ ∵ ∫ ∬ ∈ ∋ ⊆ ⊇ ⊂ ⊃ ∪ ∩ ∧
∨ ￢ ⇒ ⇔ ∀ ∃ ∮ ∑ ∏ ＋ － ＜ ＝ ＞      
  ก ข ฃ ค ฅ ฆ ง จ ฉ ช ซ ฌ ญ ฎ ฏ
ฐ ฑ ฒ ณ ด ต ถ ท ธ น บ ป ผ ฝ พ ฟ
ภ ม ย ร ฤ ล ฦ ว ศ ษ ส ห ฬ อ ฮ ฯ
ะ ั า ำ ิ ี ึ ื ุ ู ฺ         ฿
เ แ โ ใ ไ ๅ ๆ ็ ่ ้ ๊ ๋ ์ ํ ๎ ๏
᠀ ᠁ ᠂ ᠃ ᠄ ᠅ ᠆ ᠇ ᠈ ᠉ ᠊          
᠐ ᠑ ᠒ ᠓ ᠔ ᠕ ᠖ ᠗ ᠘ ᠙            
ᠠ ᠡ ᠢ ᠣ ᠤ ᠥ ᠦ ᠧ ᠨ ᠩ ᠪ ᠫ ᠬ ᠭ ᠮ ᠯ
ᠰ ᠱ ᠲ ᠳ ᠴ ᠵ ᠶ ᠷ ᠸ ᠹ ᠺ ᠻ ᠼ ᠽ ᠾ ᠿ
ᡀ ᡁ ᡂ ᡃ ᡄ ᡅ ᡆ ᡇ ᡈ ᡉ ᡊ ᡋ ᡌ ᡍ ᡎ ᡏ
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'e-Article' searched 34results | List 1~20
Patient complaints as predictors of patient safety incidents
Academic Journal
Helen Kroening; Bronwyn Kerr; James Bruce; Iain Yardley
Patient Experience Journal (2015)
Open Access (DOAJ) Find it@PNU
High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency
Academic Journal
Jamie M. Ellingford; Nick Telford; Jill Urquhart; Andrew M Will; Denise Bonney; Ben Adams; Rachel Dixon; Bronwyn Kerr; Graeme CM Black; Robert F Wynn; Stefan Meyer
Ellingford, J, Telford, N, Urquhart, J, Will, A M, Bonney, D, Adams, B, Dixon, R, Kerr, B, Black, G, Wynn, R F & Meyer, S 2021, 'High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency', Cancer Genetics.
Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science Scopus JCR 저널정보 Find it@PNU
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
Academic Journal
Leslie Patricia Molina-Ramírez; Claire Kyle; Jamie M Ellingford; Ronnie Wright; Algy Taylor; Sanjeev S Bhaskar; Christopher Campbell; Harriet Jackson; Adele Fairclough; Abigail Rousseau; George J Burghel; Laura Dutton; Siddharth Banka; Tracy A Briggs; Jill Clayton-Smith; Sofia Douzgou; Elizabeth A Jones; Helen M Kingston; Bronwyn Kerr; John Ealing; Suresh Somarathi; Kate E Chandler; Helen M Stuart; Emma MM Burkitt-Wright; William G Newman; Iain A Bruce; Graeme C Black; David Gokhale
J Med Genet
Molina-Ramírez, L P, Kyle, C, Ellingford, J M, Wright, R, Taylor, A, Bhaskar, S S, Campbell, C, Jackson, H, Fairclough, A, Rousseau, A, Burghel, G J, Dutton, L, Banka, S, Briggs, T A, Clayton-Smith, J, Douzgou, S, Jones, E A, Kingston, H M, Kerr, B, Ealing, J, Somarathi, S, Chandler, K E, Stuart, H M, Burkitt-Wright, E M, Newman, W G, Bruce, I A, Black, G C & Gokhale, D 2021, 'Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders', Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2020-107303
Full Text (ProQuest) Full Text (ProQuest) Full Text (BMJ Journals) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Academic Journal
Joanna Kaplanis; Kaitlin E. Samocha; Laurens Wiel; Zhancheng Zhang; Kevin J. Arvai; Ruth Y. Eberhardt; Giuseppe Gallone; Stefan H. Lelieveld; Hilary C. Martin; Jeremy F. McRae; Patrick J. Short; Rebecca I. Torene; Elke de Boer; Petr Danecek; Eugene J. Gardner; Ni Huang; Jenny Lord; Iñigo Martincorena; Rolph Pfundt; Margot R. F. Reijnders; Alison Yeung; Helger G. Yntema; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai-Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo-Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw-Smith; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela Pilz; Edward Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane Hurst; Lucy Jenkins; Wendy Jones; V. K. Ajith Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard Scott; Louise Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Dragana Josifova; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Siddharth Banka; Catherine Breen; Tracy Briggs; Emma Burkitt-Wright; Kate Chandler; Jill Clayton-Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard Gibbons; Usha Kini; Tracy Lester; Andrea Nemeth; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; Alison Stewart; Josh Willoughby; Charlene Crosby; Frances Elmslie; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton-Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian Sampson; Francis Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; Lisenka E. L. M. Vissers; Jane Juusola; Caroline F. Wright; Han G. Brunner; Helen V. Firth; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; Christian Gilissen; Kyle Retterer
Nature
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Full Text (Nature Journals) Full Text (ProQuest) Full Text (ProQuest) Full Text (Gale Academic Onefile) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
Academic Journal
Anne H. O’Donnell-Luria; Lynn S. Pais; Víctor Faundes; Jordan C. Wood; Abigail Sveden; Victor Luria; Rami Abou Jamra; Andrea Accogli; Kimberly Amburgey; Britt Marie Anderlid; Silvia Azzarello-Burri; Alice A. Basinger; Claudia Bianchini; Lynne M. Bird; Rebecca Buchert; Wilfrid Carre; Sophia Ceulemans; Perrine Charles; Helen Cox; Lisa Culliton; Aurora Currò; Florence Demurger; James J. Dowling; Benedicte Duban-Bedu; Christèle Dubourg; Saga Elise Eiset; Luis F. Escobar; Alessandra Ferrarini; Tobias B. Haack; Mona Hashim; Solveig Heide; Katherine L. Helbig; Ingo Helbig; Raul Heredia; Delphine Héron; Bertrand Isidor; Amy R. Jonasson; Pascal Joset; Boris Keren; Fernando Kok; Hester Y. Kroes; Alinoë Lavillaureix; Xin Lu; Saskia M. Maas; Gustavo H.B. Maegawa; Carlo L.M. Marcelis; Paul R. Mark; Marcelo R. Masruha; Heather M. McLaughlin; Kirsty McWalter; Esther U. Melchinger; Saadet Mercimek-Andrews; Caroline Nava; Manuela Pendziwiat; Richard Person; Gian Paolo Ramelli; Luiza L.P. Ramos; Anita Rauch; Caitlin Reavey; Alessandra Renieri; Angelika Rieß; Amarilis Sanchez-Valle; Shifteh Sattar; Carol Saunders; Niklas Schwarz; Thomas Smol; Myriam Srour; Katharina Steindl; Steffen Syrbe; Jenny C. Taylor; Aida Telegrafi; Isabelle Thiffault; Doris A. Trauner; Helio van der Linden; Silvana van Koningsbruggen; Laurent Villard; Ida Vogel; Julie Vogt; Yvonne G. Weber; Ingrid M. Wentzensen; Elysa Widjaja; Jaroslav Zak; Samantha Baxter; Siddharth Banka; Lance H. Rodan; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Natalie Canham; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Jill Clayton-Smith; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Harinder Gill; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Bronwyn Kerr; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; Dhavendra Kumar; V. K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Julia Rankin; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; I. Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles
American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
Academic Journal
Lynette G. Sadleir; Emily I. Mountier; Deepak Gill; Suzanne Davis; Charuta Joshi; Catherine DeVile; Manju A. Kurian; Simone Mandelstam; Elaine Wirrell; Katherine C. Nickels; Hema R. Murali; Gemma Carvill; Candace T. Myers; Heather C. Mefford; Ingrid E. Scheffer; A. Paul Bevan; Abhijit Dixit; Abigail Pridham; Adrian R. Tivey; Ajoy Sarkar; Alan Donaldson; Alan Fryer; Alejandro Sifrim; Alex Henderson; Alex Magee; Alexis Duncan; Alison Kraus; Alison Male; Alison Ross; Amanda Collins; Anand Saggar; Andrea Coates; Andrea Nemeth; Andrew Fry; Andrew Green; Andrew Jackson; Andrew Norman; Angela Barnicoat; Angela Brady; Angela Douglas; Angus Clarke; Angus Dobbie; Ann Selby; Anna Middleton; Anne Lampe; Anneke Seller; Annie Procter; Karenza Evans; Anthony Vandersteen; Astrid Weber; Audrey Smith; Audrey Torokwa; Beckie Kaemba; Becky Treacy; Beiyuan Fu; Ben Hutton; Birgitta Bernhard; Bronwyn Kerr; Bruce Castle; Carina Donnelly; Carol Gardiner; Carol Scott; Carole Brewer; Caroline F. Wright; Caroline Langman; Caroline Ogilvie; Caroline Pottinger; Carolyn Tysoe; Cat Taylor; Catherine McWilliam; Charles Shaw-Smith; Charu Deshpande; Cheryl Longman; Cheryl Sequeira; Chirag Patel; Chris Bennett; Chris Nellåker; Christopher Wragg; Claire Kirk; Claire Turner; Daniel King; Daniel M. Barrett; Daniel Perrett; Daniela T. Pilz; Danielle Walker; David Baty; David Bohanna; David Bourn; David Goudie; David J. Bunyan; David Jones; David Moore; David R. FitzPatrick; Debbie Rice; Debbie Shears; Deirdre Cilliers; Deirdre Donnelly; Denise Williams; Derek Lim; Dhavendra Kumar; Emma McCann; Dian Donnai; Diana Baralle; Diana Johnson; Diana Rajan; Diana Wellesley; Dominic J McMullan; Douglas Simpkin; Dragana Josifova; Dylan de Vries; Eamonn Sheridan; Eddy Maher; Edward Blair; Eileen Roberts; Elena Chatzimichali; Elena Prigmore; Elisabeth Rosser; Elizabeth Jones; Elizabeth Sweeney; Emily Wilkinson; Emma Gray; Pipelines Staff; Emma Hobson; Emma Kivuva; Emma Miles; Emma Shearing; Emma Wakeling; Esther Kinning; Eugene Bragin; Eve L. Coomber; Fentang Yang; Fiona Connell; Fiona Stewart; Frances Elmslie; Frances Flinter; G. Jawahar Swaminathan; Gail Kirby; Gareth Cross; Gemma Devlin; Geoff Woods; Georgina Hollingsworth; Gillian Roberts; Gordon Lowther; Harinder Gill; Hayley Archer; Helen Cox; Helen Firth; Helen Kingston; Helen Murphy; Helen Stewart; Helen V. Firth; Hellen Purnell; Hood Mugalaasi; Ian Ellis; Ingrid Scurr; Ingrid Simonic; Irina Colgiu; Jacqueline Eason; Jana Awada; Jane Hurst; Jeffrey C. Barrett; Jenny Morton; Jenny Thomson; Jeremy McRae; Jill Clayton-Smith; Joan Paterson; Joanna Jarvis; Joanna Kaplanis; Joanna Poulton; John Burn; John Burton; John Dean; John Tolmie; Jonathan Berg; Jonathan Roberts; Jonathon Waters; Josh Randall; Judith Goodship; Julia Rankin; Julian Sampson; Julie Phipps; Julie Vogt; Kai-Ren Ong; Karen Marks; Kate Brunstrom; Kate Chandler; Kate Tatton-Brown; Kath Smith; Katherine I. Morley; Katherine Lachlan; I. Karen Temple; Katherine Martin; Katrina Prescott; Kay Metcalfe; Kirsten McKay; Kirsty Ambridge; Lara Cresswell; Laura E. Mason; Laura Yates; Leema Robert; Lily Islam; Linda Sneddon; Lisa Bradley; Liu He; Lorraine Gaunt; Louise Bourdon; Louise Brueton; Louise Nevitt; Louise Wilson; Lucy Harrison; Lucy Hilyard; Lucy Jenkins; Lucy Raymond; Lynn Greenhalgh; Marc Tischkowitz; Margo Whiteford; Margriet van Kogelenberg; Maria Bitner-Glindzicz; Mariella D’Alessandro; Martin Pollard; Matthew E. Hurles; Meena Balasubramanian; Melissa Lees; Melita Irving; Meriel McEntagart; Mervyn Humphreys; Michael Parker; Michael Wright; Michael Yau; Miranda Splitt; Miranda Squires; Mohnish Suri; Mohsan Alvi; Moira Blyth; Morag N. Collinson; Munaza Ahmed; Muriel Holder; Nadia Akawi; Natalie Canham; Neeti Ghali; Netravathi Krishnappa; Nicola Cooper; Nicola Foulds; Nicola Ragge; Nicola Williams; Nigel P. Carter; Nora Shannon; Norman Pratt; Oliver Quarrell; Paul Batstone; Paul Roberts; Peter Ellis; Peter Turnpenny; Philip Greene; Philip Jones; Pradeep Vasudevan; Rachel Harrison; Raheleh Rahbari; Ray Miller; Richard Fisher; Richard Gibbons; Richard Sandford; Richard Scott; Rob Andrews; Rohan Taylor; Roldan Singzon; Rose Hawkins; Rosemarie Davidson; Rosemary Kelsell; Rosie O’Shea; Ruby Banerjee; Ruth Armstrong; Ruth McGowan; Ruth Newbury-Ecob; Saba Sharif; Mark Tein; Saeed Al-Turki; Sahar Mansour; Sally Ann Lynch; Sally Davies; Sandra Kazembe; Sandra Louzada Gomes Pereira; Sara Widaa; Sarah Edkins; Sarah Everest; Sarah Hewitt; Sarah Smithson; Sarah Wallwark; Sarah Wilcox; Sarju Mehta; Sebastian S. Gerety; Shalaka Samant; Shane McKee; Shehla Mohammed; Shelagh Joss; Sian Ellard; Sian Morgan; Siddhartha Banka; Simon Brent; Simon Holden; Sofia Douzgou; Soo-Mi Park; Stephen Clayton; Stephen Hellens; Stewart Payne; Stuart Aitken; Stuart Ingram; Sue Price; Susan Clasper; Susan Gribble; Susan Holder; Susan McNerlan; Susan Tomkins; Susann Schweiger; Suzannah J. Bumpstead; Swati Naik; Tabib Dabir; Tanya Bayzetinova; Tara Montgomery; Tarjinder Singh; Tessa Homfray; Tina Fendick; Tomas W. Fitzgerald; Trevor Cole; Una Maye; Uruj Anjum; Usha Kini; V. K. Ajith Kumar; Victoria Harrison; Victoria Murday; Vijaya Parthiban; Vinod Varghese; Virginia Clowes; Vivienne McConnell; Vivienne Sutton; Volker Straub; Wayne Lam; Wendy D. Jones; Yanick Crow; Zara Skitt; Zosia Miedzybrodzka
Neurology
Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G & Scheffer, IE 2017, ' Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ', Neurology . https://doi.org/10.1212/wnl.0000000000004331
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Academic Journal
Lauren Jeffries; Emily K. Mis; Kirsty McWalter; Sandra Donkervoort; Nina N. Brodsky; Jean-Marie Carpier; Weizhen Ji; Cristian Ionita; Bhaskar Roy; Jon S. Morrow; Armine Darbinyan; Krishna Iyer; Ritu B. Aul; Siddharth Banka; Katherine R. Chao; Laura Cobbold; Stacey Cohen; Helena M. Custodio; Margaret Drummond-Borg; Frances Elmslie; Erika Finanger; Bryan E. Hainline; Ingo Helbig; Stacy Hewson; Ying Hu; Adam Jackson; Dragana Josifova; Monica Konstantino; Meganne E. Leach; Bryan Mak; David McCormick; Elisabeth McGee; Stanley Nelson; Joanne Nguyen; Kimberly Nugent; Lucy Ortega; Howard P. Goodkin; Elizabeth Roeder; Sani Roy; Katie Sapp; Dimah Saade; Sanjay M. Sisodiya; Karen Stals; Shelley Towner; William Wilson; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai-Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo-Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw-Smith; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela Pilz; Edward Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane Hurst; Lucy Jenkins; Wendy Jones; V.K. Ajith Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard Scott; Louise Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Catherine Breen; Tracy Briggs; Emma Burkitt-Wright; Kate Chandler; Jill Clayton-Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard Gibbons; Usha Kini; Tracy Lester; Andrea Nemeth; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; Alison Stewart; Josh Willoughby; Charlene Crosby; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton-Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian Sampson; Francis Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; J.C. Ambrose; P. Arumugam; E.L. Baple; M. Bleda; F. Boardman-Pretty; J.M. Boissiere; C.R. Boustred; M.J. Caulfield; G.C. Chan; C.E.H. Craig; L.C. Daugherty; A. de Burca; A. Devereau; G. Elgar; R.E. Foulger; T. Fowler; P. FurióTarí; J.M. Hackett; D. Halai; A. Hamblin; S. Henderson; J.E. Holman; T.J.P. Hubbard; K. Ibáñez; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; L. Lahnstein; K. Lawson; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. MaleadyCrowe; J. Mason; E.M. McDonagh; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; C.A. Odhams; C. Patch; D. Perez-Gil; D. Polychronopoulos; J. Pullinger; T. Rahim; A. Rendon; P. Riesgo-Ferreiro; T. Rogers; M. Ryten; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; D. Smedley; K.R. Smith; A. Sosinsky; W. Spooner; H.E. Stevens; A. Stuckey; R. Sultana; E.R.A. Thomas; S.R. Thompson; A. Tucci; E. Walsh; S.A. Watters; M.J. Welland; E. Williams; K. Witkowska; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Tyra Estwick; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Rena A. Godfrey; Katie Golden-Grant; Alica M. Goldman; David B. Goldstein; Alana Grajewski; Catherine A. Groden; Andrea L. Gropman; Irma Gutierrez; Sihoun Hahn; Rizwan Hamid; Neil A. Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Rosario Isasi; Fariha Jamal; Gail P. 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Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Cecelia P. Tamburro; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Stephanie Wallace; Nicole M. Walley; Chris A. Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-Kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Jeremy D. Woods; Shinya Yamamoto; John Yang; Guoyun Yu; Diane B. Zastrow; Chunli Zhao; Stephan Zuchner; Mustafa K. Khokha; Carsten G. Bönnemann; Carrie L. Lucas; Saquib A. Lakhani
Deciphering Developmental Disorders, Genomics England Research Consortium & Undiagnosed Disease Network 2024, 'Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 26, no. 2, 101023. https://doi.org/10.1016/j.gim.2023.101023
Genetics in Medicine, vol 26, iss 2
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Academic Journal
Víctor Faundes; William G. Newman; Laura Bernardini; Natalie Canham; Jill Clayton-Smith; Bruno Dallapiccola; Sally J. Davies; Michelle K. Demos; Amy Goldman; Harinder Gill; Rachel Horton; Bronwyn Kerr; Dhavendra Kumar; Anna Lehman; Shane McKee; Jenny Morton; Michael J. Parker; Julia Rankin; Lisa Robertson; I. Karen Temple; Shelin Adam; Christèle du Souich; Alison M. Elliott; Jill Mwenifumbo; Tanya N. Nelson; Clara van Karnebeek; Jan M. Friedman; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Siddharth Banka; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Helen Cox; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; V.K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Julie Vogt; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. . Hurles
Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith, J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, 'Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187. https://doi.org/10.1016/j.ajhg.2017.11.013
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Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway
Academic Journal
Shruti Garg; Ami Brooks; Amy Burns; Emma Burkitt‐Wright; Bronwyn Kerr; Susan Huson; Richard Emsley; Jonathan Green
Garg, S, Brooks, A, Burns, A, Burkitt-Wright, E, Kerr, B, Huson, S, Emsley, R & Green, J 2017, 'Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway', Developmental medicine and child neurology, vol. 59, no. 5, pp. 544-549. https://doi.org/10.1111/dmcn.13394
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The contribution of X-linked coding variation to severe developmental disorders
Academic Journal
Hilary C. Martin; Eugene J. Gardner; Kaitlin E. Samocha; Joanna Kaplanis; Nadia Akawi; Alejandro Sifrim; Ruth Y. Eberhardt; Ana Lisa Taylor Tavares; Matthew D. C. Neville; Mari E. K. Niemi; Giuseppe Gallone; Jeremy McRae; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai-Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo-Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw-Smith; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela Pilz; Edward Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane Hurst; Lucy Jenkins; Wendy Jones; V.K.Ajith Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard Scott; Louise Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Dragana Josifova; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Siddharth Banka; Catherine Breen; Tracy Briggs; Emma Burkitt-Wright; Kate Chandler; Jill Clayton-Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard Gibbons; Usha Kini; Tracy Lester; Andrea Nemeth; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; Alison Stewart; Josh Willoughby; Charlene Crosby; Frances Elmslie; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton-Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian Sampson; Francis Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; Caroline F. Wright; David R. FitzPatrick; Helen V. Firth; Matthew E. Hurles
Nat Commun
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Deciphering Developmental Disorders Study & Briggs, T 2021, 'The contribution of X-linked coding variation to severe developmental disorders', Nature Communications, vol. 12, no. 1, 627. https://doi.org/10.1038/s41467-020-20852-3
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