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Elizabeth A. Jones
Researcher at University of Manchester
Publications - 26
Citations - 747
Elizabeth A. Jones is an academic researcher from University of Manchester. The author has contributed to research in topics: Population & Exome sequencing. The author has an hindex of 13, co-authored 26 publications receiving 609 citations. Previous affiliations of Elizabeth A. Jones include Manchester Academic Health Science Centre & St Mary's Hospital.
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Journal ArticleDOI
Basal cell carcinomas in gorlin syndrome: a review of 202 patients.
TL;DR: The data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.
Journal ArticleDOI
A randomised controlled trial to compare methods of milk expression after preterm delivery.
TL;DR: Results show that simultaneous pumping is more effective at producing milk than sequential pumping and that breast massage has an additive effect, improving milk production in both groups.
Journal ArticleDOI
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Charlotte W. Ockeloen,Marjolein H. Willemsen,Sonja A. de Munnik,Bregje W. M. van Bon,Bregje W. M. van Bon,Nicole de Leeuw,Aad Verrips,Sarina G. Kant,Elizabeth A. Jones,Han G. Brunner,Rosa L. E. van Loon,Eric Smeets,Mieke M. van Haelst,Gijs van Haaften,Ann Nordgren,Helena Malmgren,Giedre Grigelioniene,Sascha Vermeer,Pedro Louro,Lina Ramos,Thomas J.J. Maal,Celeste C. van Heumen,Helger G. Yntema,Carine Carels,Tjitske Kleefstra +24 more
TL;DR: The largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families, is presented, with consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face.
Posted ContentDOI
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
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 A. King,Netravathi Krishnappa,Laura E Mason,Tarjinder Singh,Adrian Tivey,Munaza Ahmed,Uruj Anjum,Hayley Archer,Ruth Armstrong,Jana Awada,Meena Balasubramanian,Siddharth Banka,Diana Baralle,Angela Barnicoat,Paul Batstone,D. Baty,Christopher P. Bennett,Jonathan Berg,Birgitta Bernhard,A. Paul Bevan,Maria Bitner-Glindzicz,Edward Blair,Moira Blyth,David Bohanna,Louise Bourdon,David Bourn,Lisa Bradley,Angela F. Brady,Simon Brent,Carole Brewer,Kate Brunstrom,David J Bunyan,John Burn,Natalie Canham,Bruce Castle,Kate Chandler,Elena Chatzimichali,Deirdre Cilliers,Angus John Clarke,Susan Clasper,Jill Clayton-Smith,Virginia Clowes,Andrea Coates,Trevor Cole,Irina Colgiu,Amanda L. Collins,Morag N Collinson,Fiona Connell,Nicola S. Cooper,Helen Cox,Lara Cresswell,Gareth Cross,Yanick J. Crow,Mariella D'Alessandro,Tabib Dabir,Rosemarie Davidson,Sally J. Davies,Dylan de Vries,John Dean,Charu Deshpande,Gemma Devlin,Abhijit Dixit,Angus Dobbie,Alan Donaldson,Dian Donnai,Deirdre E. Donnelly,Carina Donnelly,Angela E. 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 E. Fry,Alan Fryer,Carol Gardiner,Lorraine Gaunt,Neeti Ghali,Richard Gibbons,Harinder Gill,Judith A. Goodship,David Goudie,Emma Gray,Andrew Green,Philip Greene,Lynn Greenhalgh,Susan M. Gribble,Rachel Harrison,Lucy Harrison,Victoria Harrison,Rose Hawkins,Liu He,Stephen W. Hellens,Alex Henderson,Sarah Hewitt,Lucy Hildyard,Emma Hobson,Simon Holden,Muriel Holder,Susan Holder,Georgina Hollingsworth,Tessa Homfray,Mervyn Humphreys,Jane A. Hurst,Ben Hutton,Stuart Ingram,Melita Irving,Lily Islam,Andrew Jackson,Joanna Jarvis,Lucy Jenkins,Diana Johnson,Elizabeth A. 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 Ann 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 E. McNerlan,Catherine McWilliam,Sarju G. 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 H. Németh,Louise Nevitt,Ruth Newbury-Ecob,Andrew R. Norman,Rosie O'Shea,Caroline Mackie Ogilvie,Kai-Ren Ong,Soo-Mi Park,Michael Parker,Chirag N. Patel,Joan Paterson,Stewart Payne,Daniel Perrett,Julie M. Phipps,Daniela T Pilz,Martin O. Pollard,Caroline Pottinger,Joanna Poulton,Norman Pratt,Katrina Prescott,Sue Price,Abigail Pridham,Annie Procter,Hellen Purnell,Oliver Quarrell,Nicola K. 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 R. Sampson,R Sandford,Ajoy Sarkar,Susann Schweiger,Richard H 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 F. Smithson,Linda Sneddon,Miranda Splitt,Miranda Squires,Fiona Stewart,Helen Stewart,Volker Straub,Mohnish Suri,Vivienne Sutton,Ganesh J. Swaminathan,Elizabeth M. Sweeney,Kate Tatton-Brown,Cat Taylor,Rohan Taylor,Mark Tein,I. Karen Temple,Jenny Thomson,Marc Tischkowitz,Susan Tomkins,Audrey Torokwa,Becky Treacy,Claire E. Turner,Peter D. Turnpenny,Carolyn Tysoe,Anthony Vandersteen,Vinod Varghese,Pradeep C. 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 C. Wilson,Geoff Woods,Christopher Wragg,Michael Wright,Laura Yates,Michael Yau,Chris Nellaker,Helen V. Firth,Caroline F. Wright,David R. FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles +300 more
TL;DR: The most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother as discussed by the authors.
Journal ArticleDOI
Mosaic structural variation in children with developmental disorders
Daniel A. King,Wendy D Jones,Yanick J. Crow,Anna F. Dominiczak,Nicola A. Foster,Tom R. Gaunt,Jade Harris,Stephen W. Hellens,Tessa Homfray,J A Innes,Elizabeth A. Jones,Elizabeth A. Jones,Shelagh Joss,Abhijit Kulkarni,Sahar Mansour,Andrew D. Morris,Michael Parker,David J. Porteous,Hashem A. Shihab,Blair H. Smith,Katrina Tatton-Brown,John Tolmie,Maciej Trzaskowski,Pradeep C. Vasudevan,Emma Wakeling,Michael Wright,Robert Plomin,Nicholas J. Timpson,Matthew E. Hurles +28 more
TL;DR: The burden of structural mosaicism as a cause of developmental disorders is quantified by applying a trio-based mosaic detection algorithm, which detected two additional events in probands, including an individual with genome-wide suspected chimerism.