Large-scale discovery of novel genetic causes of developmental disorders

@inproceedings{Fitzgerald2015LargescaleDO,
  title={Large-scale discovery of novel genetic causes of developmental disorders},
  author={T. Fitzgerald and S. Gerety and WD Jones and Margriet van Kogelenberg and DA King and Jeremy McRae and K. B. Morley and Vijaya Parthiban and Saeed Al-Turki and Kirsty Ambridge and DM Barrett and Tanya Bayzetinova and Stephen Clayton and EL Coomber and Susan M. Gribble and Philip H Jones and Netravathi Krishnappa and L Mason and Anna Middleton and Ray Miller and Elena Prigmore and Diana Rajan and Alejandro Sifrim and AR Tivey and Musaddeque Ahmed and Nadia Akawi and Robert Andrews and Umair Anjum and Hayley L Archer and Ruth K. Armstrong and Meena Balasubramanian and Ruby Banerjee and Diana Baralle and Paul Batstone and David Baty and Christopher P. Bennett and Jonathan N. Berg and Brigitte Bernhard and A Paul Bevan and Edward M. Blair and M. Wynter Blyth and D Bohanna and Leslie Bourdon and David M Bourn and Angela F. Brady and Eugene Bragin and Carole Brewer and Louise Brueton and Kate Brunstrom and SJ Bumpstead and DJ Bunyan and John Burn and John Burton and Natalie L E Canham and Brent S. Castle and Kate E. Chandler and Steven Clasper and Jill Clayton-Smith and Trevor R. P. Cole and Amanda L. Collins and MN Collinson and Fiona Connell and Nicola S. Cooper and Helen E Cox and Lara Cresswell and G. M. T. Cross and Y J Crow and Mariadomenica D’Alessandro and Tabib A Dabir and Robert G Davidson and Simon R Davies and John F. Dean and Charulatha Deshpande and Glyn Devlin and Abhijit Dixit and A Dominiczak and C Donnelly and D Donnelly and Ashley Douglas and Anna E. Duncan and Jacqueline Eason and Sarah J Edkins and Sian Ellard and Peter F. Ellis and Frances V. Elmslie and Katy Evans and Sarah Everest and T Fendick and R Fisher and Frances A. Flinter and Nicola C. Foulds and Alan E. Fryer and Beiyuan Fu and Charles Gardiner and Lorraine Gaunt and Neeti Ghali and Rebecca Gibbons and SL Gomes Pereira and Judith A. Goodship and David R. Goudie and Emma A Gray and Philip Greene and Lynn Greenhalgh and L Harrison and Rodney Hawkins and Stephen W. Hellens and Alex A Henderson and E. L. Hobson and Simon T Holden and Susan E. Holder and Gillian Hollingsworth and Tessa Homfray and Macartan Humphreys and Jane A. Hurst and Seth Ingram and Melita D. Irving and Joanna Jarvis and Lucy A Jenkins and Diana S. Johnson and David Jones and Evan Jones and Dragana J. Josifova and Shelagh K. Joss and B Kaemba and S Kazembe and Benjamin Kerr and Usha Kini and Esther Kinning and Greg Kirby and Calum Kirk and Emma C Kivuva and Alison Kraus and Deepak Kumar and Katherine L. Lachlan and Weyman Lam and Andr{\'e} Lampe and Caroline M Langman and Melissa Lees and Derek H K Lim and George Lowther and S Lynch and Alex C. Magee and Elizabeth Maher and Sami Mansour and Kris Marks and Krahn Martin and Una Maye and Emma McCann and Vivienne P M McConnell and Meriel E. McEntagart and Ray McGowan and Kirsten E McKay and Shane McKee and DJ McMullan and Susan E. Mcnerlan and Sarju G Mehta and Kay.A. Metcalfe and Emma K. Miles and Shehla Mohammed and T. Montgomery and David Moore and Sian M. Morgan and Andrea L. Morris and Jenny E. V. Morton and Hood Mugalaasi and Vicky Murday and L Nevitt and Ruth Newbury-Ecob and A Norman and Roberta Kuchler O'Shea and Caroline M. Ogilvie and Soo-Mi Park and MJ Parker and Chiraag Patel and Joan Paterson and Sheryn Payne and Julie Phipps and DT Pilz and David D. Porteous and Norman R. Pratt and Katrina R Prescott and Sue Price and Allison Pridham and Andrea Procter and Heather Purnell and Nicola Ragge and Julia Rankin and Lucy F L Raymond and Debbie Rice and Leema Robert and Emma Roberts and Gareth Roberts and Jerry Roberts and Paul M. Roberts and Alison Ross and Elisabeth M Rosser and Anand K. Saggar and Sagar Samant and Richard N. Sandford and Ajoy Dey Sarkar and Sylvia Schweiger and Candace Scott and Richard H. Scott and Allison Selby and Anneke Seller and C Sequeira and Nicholas Shannon and SH. Sharif and Charles J. Shaw-Smith and Emma Shearing and Dan Shears and Ingrid Simonic and D Simpkin and R Singzon and Zara Skitt and Audrey Ursula Smith and Breffni Smith and Kath Smith and Sarah L Smithson and Linda Sneddon and Miranda Splitt and Mandy Squires and Fiona J. Stewart and Helen Stewart and Mohnish Suri and Veronica Sutton and G Jawahar Swaminathan and Elizabeth J. Sweeney and Katrina Tatton-Brown and Clare J Taylor and Rohan Taylor and M Tein and I Karen Temple and Jaqueline Thomson and Jacinta Tolmie and A Torokwa and Becky Treacy and Claire Louise Susan Turner and Peter Turnpenny and Carolyn Tysoe and Anthony Martin Vandersteen and Pradeep C. Vasudevan and Julie Vogt and Emma L. Wakeling and Danielle L Walker and Judi Waters and Astrid Weber and Diana Wellesley and Margo Whiteford and Sara Widaa and Stefania Wilcox and Denise A Williams and Nicola Williams and Geoff Woods and Christopher Wragg and Michael J. Wright and Fengtang Yang and Myra Yau and N Carter and Michael C. Parker and HV Firth and Dr Merrilyn Fitzpatrick and CF Wright and J Barrett and ME Hurles},
  booktitle={Nature},
  year={2015}
}
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enough to have eluded recognition as a discrete clinical entity, those with highly variable clinical manifestations, and those that are difficult to distinguish from other, very similar, disorders. Here… CONTINUE READING
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A framework for the interpretation of de novo mutation in human disease

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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

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