Margo Whiteford
NHS Greater Glasgow and Clyde
17 Papers
67 Citations
Margo Whiteford is an academic researcher from NHS Greater Glasgow and Clyde. The author has contributed to research in topics: Exome sequencing & Mutation. The author has an hindex of 11, co-authored 17 publications. Previous affiliations of Margo Whiteford include Royal Hospital for Sick Children & Southern General Hospital.
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Papers
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Margot R.F. Reijnders,Robert Janowski,Mohsan Alvi,Jay E. Self,Jay E. Self,Ton van Essen,Maaike Vreeburg,Rob P.W. Rouhl,Servi J. C. Stevens,Alexander P.A. Stegmann,Jolanda H. Schieving,Rolph Pfundt,Katinke Van Dijk,Eric Smeets,Connie T.R.M. Stumpel,Levinus A. Bok,Jan Maarten Cobben,Marc Engelen,Sahar Mansour,Margo Whiteford,Kate Chandler,Sofia Douzgou,Nicola S. Cooper,Ene-Choo Tan,Roger Foo,Roger Foo,Roger Foo,Angeline H. M. Lai,Julia Rankin,Andrew Green,Tuula Lönnqvist,Pirjo Isohanni,Shelley Williams,Ilene S. Ruhoy,Karen S. Carvalho,James J. Dowling,Dorit Lev,Katalin Sterbova,Petra Laššuthová,Jana Neupauerová,Jeff L. Waugh,Sotirios Keros,Jill Clayton-Smith,Sarah F. Smithson,Han G. Brunner,Han G. Brunner,Ceciel Van Hoeckel,Mel Anderson,Virginia Clowes,Victoria Mok Siu,Paulo Selber,Richard J. Leventer,Christoffer Nellåker,Dierk Niessing,David Hunt,David Hunt,Diana Baralle,Diana Baralle,Diana Baralle +58 more
TL;DR: The clinical spectrum of PURA syndrome is delineated with the identification of 32 additional individuals and genotype-phenotype analysis showed no significant correlation between mutation classes and disease severity, which points towards the clinical recognisability of the syndrome.
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.
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Josephina A.N. Meester,Maja Sukalo,Kim C. Schröder,Denny Schanze,Gareth Baynam,Gareth Baynam,Gareth Baynam,Guntram Borck,Nuria C. Bramswig,Duygu Duman,Brigitte Gilbert-Dussardier,Muriel Holder-Espinasse,Peter Itin,Diana Johnson,Shelagh Joss,Hannele Koillinen,Fiona Haslam McKenzie,Jenny Morton,Heike Nelle,Willie Reardon,Claudia Roll,Mustafa A. Salih,Ravi Savarirayan,Ingrid Scurr,Miranda Splitt,Elizabeth Thompson,Elizabeth Thompson,Hannah Titheradge,Colm P. Travers,Lionel Van Maldergem,Margo Whiteford,Dagmar Wieczorek,Geert Vandeweyer,Richard C. Trembath,Lut Van Laer,Bart Loeys,Martin Zenker,Laura Southgate,Laura Southgate,Wim Wuyts +39 more
TL;DR: The relevance of genetic screening across the AOS/ACC/TTLD spectrum is confirmed, highlighting preliminary but important genotype–phenotype correlations and this cohort offers potential for further gene identification to address missing heritability.
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Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations
Louise Harewood,Monica Liu,Jean W. Keeling,Alan G. Howatson,Margo Whiteford,Peter Branney,Margaret J. Evans,J. Fantes,David R. FitzPatrick +8 more
TL;DR: The previously unreported association of BRAHD with laterality defects suggests that renal agenesis may share a common etiology with heterotaxy in some cases.
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Philip B. Daniel,Timothy R. Morgan,Yasemin Alanay,Emilia K. Bijlsma,Tae Joon Cho,Trevor Cole,Felicity Collins,Albert David,Koenraad Devriendt,Laurence Faivre,Shiro Ikegawa,Sébastien Jacquemont,Milos Jesic,Deborah Krakow,Daniela Liebrecht,Silvia Maitz,Sandrine Marlin,Gilles Morin,Toshiya Nishikubo,Gen Nishimura,Trine Prescott,Gioacchino Scarano,Yousef Shafeghati,Flemming Skovby,Seiji Tsutsumi,Margo Whiteford,Martin Zenker,Stephen P. Robertson +27 more
TL;DR: Data are consistent with mutations in the ABD conferring enhanced actin‐binding activity but suggest that substitutions affecting repeats near the flexible hinge region of FLNB precipitate the same phenotypes through a different mechanism.
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