Type: Article
| 2013
| Item not available on this server.
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum -
Siddharth Banka,
Ratna Veeramachaneni,
William Reardon,
Emma Howard,
Sancha Bunstone,
Nicola Ragge,
Michael J Parker,
Yanick J Crow,
Bronwyn Kerr,
Helen Kingston,
Kay Metcalfe,
Kate Chandler,
Alex Magee,
Fiona Stewart,
Vivienne P M McConnell,
Deirdre E Donnelly,
Siren Berland,
Gunnar Houge,
Jenny E Morton,
Christine Oley,
Nicole Revencu,
Soo-Mi Park,
Sally J Davies,
Andrew E Fry,
Sally Ann Lynch,
Harinder Gill,
Susann Schweiger,
Wayne W K Lam,
John Tolmie,
Shehla N Mohammed,
Emma Hobson,
Audrey Smith,
Moira Blyth,
Christopher Bennett,
Pradeep C Vasudevan,
Sixto García-Miñaúr,
Alex Henderson,
Judith Goodship,
Michael J Wright,
Richard Fisher,
Richard Gibbons,
Susan M Price,
Deepthi C de Silva,
I Karen Temple,
Amanda L Collins,
Katherine Lachlan,
Frances Elmslie,
Meriel McEntagart,
Bruce Castle,
Jill Clayton-Smith,
Graeme C Black and
Dian Donnai
Type: Article
| 2012
| Item not available on this server.
DNA methylation signature for EZH2 functionally classifies sequence variants in three PRC2 complex genes -
Sanaa Choufani,
William T. Gibson,
Andrei L. Turinsky,
Brian H.Y. Chung,
Tianren Wang,
Kopal Garg,
Alessandro Vitriolo,
Ana S.A. Cohen,
Sharri Cyrus,
Sarah Goodman,
Eric Chater-Diehl,
Jack Brzezinski,
Michael Brudno,
Luk Ho Ming,
Susan M. White,
Sally Ann Lynch,
Carol Clericuzio,
I. Karen Temple,
Frances Flinter,
Vivienne Mcconnell,
Tom Cushing,
Lynne M. Bird,
Miranda Splitt,
Bronwyn Kerr,
Stephen W. Scherer,
Jerry Machado,
Eri Imagawa,
Nobuhiko Okamoto,
Naomichi Matsumoto,
Guiseppe Testa,
Maria Iascone,
Romano Tenconi,
Oana Caluseriu,
Roberto Mendoza-londono,
David Chitayat,
Cheryl Cytrynbaum,
Katrina Tatton-Brown and
Rosanna Weksberg
Type: Article
| 2020
Histone lysine methylases and demethylases in the landscape of human developmental disorders -
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 and
Siddharth Banka
Type: Article
| 2018
Type: Article
| 2002
| Item not available on this server.
Pathogenicity and selective constraint on variation near splice sites -
Jenny Lord,
Giuseppe Gallone,
Patrick J Short,
Jeremy F Mcrae,
Holly Ironfield,
Elizabeth H Wynn,
Sebastian S Gerety,
Liu He,
Bronwyn Kerr,
Diana S Johnson,
Emma Mccann,
Esther Kinning,
Frances Flinter,
I. Karen Temple,
Jill Clayton-smith,
Meriel Mcentagart,
Sally Ann Lynch,
Shelagh Joss,
Sofia Douzgou,
Tabib Dabir,
Virginia Clowes,
Vivienne P.m Mcconnell,
Wayne Lam,
David R Fitzpatrick,
Caroline F Wright,
Helen V Firth,
Jeffrey C Barrett and
Matthew E Hurles
Type: Article
| 2019
De Novo and inherited loss-of-function variants in TLK2: Clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder -
Margot R.F. Reijnders,
Kerry A. Miller,
Mohsan Alvi,
Jacqueline A.C. Goos,
Melissa M. Lees,
Anna De Burca,
Alex Henderson,
Alison Kraus,
Barbara Mikat,
Bert B.A. De Vries,
Bertrand Isidor,
Bronwyn Kerr,
Carlo Marcelis,
Caroline Schluth-Bolard,
Charu Deshpande,
Claudia A.l. Ruivenkamp,
Dagmar Wieczorek,
Diana Baralle,
Edward M. Blair,
Hartmut Engels,
Hermann-Josef Lüdecke,
Jacqueline Eason,
Gijs W.E. Santen,
Jill Clayton-Smith,
Kate Chandler,
Katrina Tatton-Brown,
Katelyn Payne,
Katherine Helbig,
Kelly Radtke,
Kimberly M. Nugent,
Kirsten Cremer,
Tim M. Strom,
Lynne M. Bird,
Margje Sinnema,
Maria Bitner-Glindzicz,
Marieke F. Van Dooren,
Marielle Alders,
Marije Koopmans,
Lauren Brick,
Mariya Kozenko,
Megan L. Harline,
Merel Klaassens,
Michelle Steinraths,
Nicola S. Cooper,
Patrick Edery,
Patrick Yap,
Paulien A. Terhal,
Peter J. Van Der Spek,
Phillis Lakeman,
Rachel L. Taylor,
Rebecca O. Littlejohn,
Rolph Pfundt,
Saadet Mercimek-Andrews,
Alexander P.A. Stegmann,
Sarina G. Kant,
Scott Mclean,
Shelagh Joss,
Sigrid M.A. Swagemakers,
Sofia Douzgou,
Steven A. Wall,
Sébastien Küry,
Eduardo Calpena,
Nils Koelling,
Simon J. Mcgowan,
Stephen R.F. Twigg,
Irene M.J. Mathijssen,
Christoffer Nellaker,
Han G. Brunner and
Andrew O.M. Wilkie
Type: Article
| 2018
This list was generated on Thu Dec 25 11:58:11 2025 GMT.