Large-scale discovery of novel genetic causes of developmental disorders

T. W. Fitzgerald; S. S. Gerety; W. D. Jones; M. van Kogelenberg; D. A. King; J. McRae; K. I. Morley; V. Parthiban; S. Al-Turki; K. Ambridge; D. M. Barrett; T. Bayzetinova; S. Clayton; E. L. Coomber; S. Gribble; P. Jones; N. Krishnappa; L. E. Mason; A. Middleton; R. Miller; E. Prigmore; D. Rajan; A. Sifrim; A. R. Tivey; M. Ahmed; N. Akawi; R. Andrews; U. Anjum; H. Archer; R. Armstrong; M. Balasubramanian; R. Banerjee; D. Baralle; P. Batstone; D. Baty; C. Bennett; J. Berg; B. Bernhard; A. P. Bevan; E. Blair; M. Blyth; D. Bohanna; L. Bourdon; D. Bourn; A. Brady; E. Bragin; C. Brewer; L. Brueton; K. Brunstrom; S. J. Bumpstead; D. J. Bunyan; J. Burn; J. Burton; N. Canham; B. Castle; K. Chandler; S. Clasper; J. Clayton-Smith; T. Cole; A. Collins; M. N. Collinson; F. Connell; N. Cooper; H. Cox; L. Cresswell; G. Cross; Y. Crow; M. D'Alessandro; T. Dabir; R. Davidson; S. Davies; J. Dean; C. Deshpande; G. Devlin; A. Dixit; A. Dominiczak; C. Donnelly; D. Donnelly; A. Douglas; A. Duncan; J. Eason; S. Edkins; S. Ellard; P. Ellis; F. Elmslie; K. Evans; S. Everest; T. Fendick; R. Fisher; F. Flinter; N. Foulds; A. Fryer; B. Fu; C. Gardiner; L. Gaunt; N. Ghali; R. Gibbons; S. L. Gomes Pereira; J. Goodship; D. Goudie; E. Gray; P. Greene; L. Greenhalgh; L. Harrison; R. Hawkins; S. Hellens; A. Henderson; E. Hobson; S. Holden; S. Holder; G. Hollingsworth; T. Homfray; M. Humphreys; J. Hurst; S. Ingram; M. Irving; J. Jarvis; L. Jenkins; D. Johnson; D. Jones; E. Jones; D. Josifova; S. Joss; B. Kaemba; S. Kazembe; B. Kerr; U. Kini; E. Kinning; G. Kirby; C. Kirk; E. Kivuva; A. Kraus; D. Kumar; K. Lachlan; W. Lam; A. Lampe; C. Langman; M. Lees; D. Lim; G. Lowther; S. A. Lynch; A. Magee; E. Maher; S. Mansour; K. Marks; K. Martin; U. Maye; E. McCann; V. McConnell; M. McEntagart; R. McGowan; K. McKay; S. McKee; D. J. McMullan; S. McNerlan; S. Mehta; K. Metcalfe; E. Miles; S. Mohammed; T. Montgomery; D. Moore; S. Morgan; A. Morris; J. Morton; H. Mugalaasi; V. Murday; L. Nevitt; R. Newbury-Ecob; A. Norman; R. O'Shea; C. Ogilvie; S. Park; M. J. Parker; C. Patel; J. Paterson; S. Payne; J. Phipps; D. T. Pilz; D. Porteous; N. Pratt; K. Prescott; S. Price; A. Pridham; A. Procter; H. Purnell; N. Ragge; J. Rankin; L. Raymond; D. Rice; L. Robert; E. Roberts; G. Roberts; J. Roberts; P. Roberts; A. Ross; E. Rosser; A. Saggar; S. Samant; R. Sandford; A. Sarkar; S. Schweier; C. Scott; R. Scott; A. Selby; A. Seller; C. Sequeira; N. Shannon; S. Shanrif; C. Shaw-Smith; E. Shearing; D. Shears; I. Simonic; D. Simpkin; R. Singzon; Z. Skitt; A. Smith; B. Smith; K. Smith; S. Smithson; L. Sneddon; M. Splitt; M. Squires; F. Stewart; H. Stewart; M. Suri; V. Sutton; G. J. Swaminathan; E. Sweeney; K. Tatton-Brown; C. Taylor; R. Taylor; M. Tein; I. K. Temple; J. Thomson; J. Tolmie; A. Torokwa; B. Treacy; C. Turner; P. Turnpenny; C. Tysoe; A. Vandersteen; P. Vasudevan; J. Vogt; E. Wakeling; D. Walker; J. Waters; A. Weber; D. Wellesley; M. Whiteford; S. Widaa; S. Wilcox; D. Williams; N. Williams; G. Woods; C. Wragg; M. Wright; F. Yang; M. Yau; N. P. Carter; M. Parker; H. V. Firth; D. R. FitzPatrick; C. F. Wright; J. C. Barrett; M. E. Hurles; Deciphering Dev Disorders Study

doi:10.1038/nature14135

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Large-scale discovery of novel genetic causes of developmental disorders

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Large-scale discovery of novel genetic causes of developmental disorders

T. W. Fitzgerald, S. S. Gerety, W. D. Jones, M. van Kogelenberg, D. A. King, J. McRae, K. I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, …

Nature (London), Vol.519(7542), pp.223-228

12/03/2015

DOI: https://doi.org/10.1038/nature14135

PMCID: PMC5955210

PMID: 25533962

Abstract

Multidisciplinary Sciences

Science & Technology

Science & Technology - Other Topics

Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1), 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 we demonstrate the power of using an unbiased genotype-driven approach(2) to identify subsets of patients with similar disorders. By studying 1,133 children with severe, undiagnosed developmental disorders, and their parents, using a combination of exome sequencing(3-11) and array-based detection of chromosomal rearrangements, we discovered 12 novel genes associated with developmental disorders. These newly implicated genes increase by 10% (from 28% to 31%) the proportion of children that could be diagnosed. Clustering of missense mutations in six of these newly implicated genes suggests that normal development is being perturbed by an activating or dominant-negative mechanism. Our findings demonstrate the value of adopting a comprehensive strategy, both genome-wide and nationwide, to elucidate the underlying causes of rare genetic disorders.

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Title: Large-scale discovery of novel genetic causes of developmental disorders
Creators - without role: T. W. Fitzgerald - Wellcome Sanger Institute
S. S. Gerety - Wellcome Sanger Institute
W. D. Jones - Wellcome Sanger Institute
M. van Kogelenberg - Wellcome Sanger Institute
D. A. King - Wellcome Sanger Institute
J. McRae - Wellcome Sanger Institute
K. I. Morley - Wellcome Sanger Institute
V. Parthiban - Wellcome Sanger Institute
S. Al-Turki - Wellcome Sanger Institute
K. Ambridge - Wellcome Sanger Institute
D. M. Barrett - Wellcome Sanger Institute
T. Bayzetinova - Wellcome Sanger Institute
S. Clayton - Wellcome Sanger Institute
E. L. Coomber - Wellcome Sanger Institute
S. Gribble - Wellcome Sanger Institute
P. Jones - Wellcome Sanger Institute
N. Krishnappa - Wellcome Sanger Institute
L. E. Mason - Wellcome Sanger Institute
A. Middleton - Wellcome Sanger Institute
R. Miller - Wellcome Sanger Institute
E. Prigmore - Wellcome Sanger Institute
D. Rajan - Wellcome Sanger Institute
A. Sifrim - Wellcome Sanger Institute
A. R. Tivey - Wellcome Sanger Institute
M. Ahmed - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
N. Akawi - Wellcome Sanger Institute
R. Andrews - Wellcome Sanger Institute
U. Anjum - University of London
H. Archer - University of Wales
R. Armstrong - University of Cambridge
M. Balasubramanian - Sheffield Childrens NHS Trust, Sheffield Reg Genet Serv, Sheffield S10 2TH, S Yorkshire, England
R. Banerjee - Wellcome Sanger Institute
D. Baralle - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
P. Batstone - NHS Grampian
D. Baty - NHS Tayside
C. Bennett - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
J. Berg - NHS Tayside
B. Bernhard - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
A. P. Bevan - Wellcome Sanger Institute
E. Blair - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
M. Blyth - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
D. Bohanna - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
L. Bourdon - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
D. Bourn - Northern (Arctic) Federal University
A. Brady - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
E. Bragin - Wellcome Sanger Institute
C. Brewer - Phillips Exeter Academy
L. Brueton - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
K. Brunstrom - Ormond
S. J. Bumpstead - Wellcome Sanger Institute
D. J. Bunyan - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
J. Burn - Northern (Arctic) Federal University
J. Burton - Wellcome Sanger Institute
N. Canham - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
B. Castle - Phillips Exeter Academy
K. Chandler - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England
S. Clasper - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
J. Clayton-Smith - University of Manchester
T. Cole - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
A. Collins - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
M. N. Collinson - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
F. Connell - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
N. Cooper - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
H. Cox - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
L. Cresswell - Leicester Royal Infirm NHS Trust, Univ Hosp Leicester NHS Trust, Leicestershire Genet Ctr, Leicester LE1 5WW, Leics, England
G. Cross - Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, Nottingham NG5 1PB, England
Y. Crow - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England
M. D'Alessandro - NHS Grampian
T. Dabir - Northern (Arctic) Federal University
R. Davidson - College Station Medical Center
S. Davies - University of Wales
J. Dean - NHS Grampian
C. Deshpande - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
G. Devlin - Phillips Exeter Academy
A. Dixit - Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, Nottingham NG5 1PB, England
A. Dominiczak - University of Glasgow
C. Donnelly - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England
D. Donnelly - Northern (Arctic) Federal University
A. Douglas - Alder
A. Duncan - College Station Medical Center
J. Eason - Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, Nottingham NG5 1PB, England
S. Edkins - Wellcome Sanger Institute
S. Ellard - Phillips Exeter Academy
P. Ellis - Wellcome Sanger Institute
F. Elmslie - University of London
K. Evans - University of Wales
S. Everest - Phillips Exeter Academy
T. Fendick - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
R. Fisher - Northern (Arctic) Federal University
F. Flinter - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
N. Foulds - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
A. Fryer - Alder
B. Fu - Wellcome Sanger Institute
C. Gardiner - College Station Medical Center
L. Gaunt - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England
N. Ghali - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
R. Gibbons - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
S. L. Gomes Pereira - Wellcome Sanger Institute
J. Goodship - Northern (Arctic) Federal University
D. Goudie - NHS Tayside
E. Gray - Wellcome Sanger Institute
P. Greene - University of Edinburgh
L. Greenhalgh - Alder
L. Harrison - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
R. Hawkins - Avon
S. Hellens - Northern (Arctic) Federal University
A. Henderson - Northern (Arctic) Federal University
E. Hobson - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
S. Holden - University of Cambridge
S. Holder - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
G. Hollingsworth - Ormond
T. Homfray - University of London
M. Humphreys - Northern (Arctic) Federal University
J. Hurst - Ormond
S. Ingram - Sheffield Childrens NHS Trust, Sheffield Reg Genet Serv, Sheffield S10 2TH, S Yorkshire, England
M. Irving - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
J. Jarvis - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
L. Jenkins - Ormond
D. Johnson - Sheffield Childrens NHS Trust, Sheffield Reg Genet Serv, Sheffield S10 2TH, S Yorkshire, England
D. Jones - Wellcome Sanger Institute
E. Jones - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England
D. Josifova - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
S. Joss - Northern (Arctic) Federal University
B. Kaemba - Leicester Royal Infirm NHS Trust, Univ Hosp Leicester NHS Trust, Leicestershire Genet Ctr, Leicester LE1 5WW, Leics, England
S. Kazembe - Leicester Royal Infirm NHS Trust, Univ Hosp Leicester NHS Trust, Leicestershire Genet Ctr, Leicester LE1 5WW, Leics, England
B. Kerr - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England
U. Kini - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
E. Kinning - College Station Medical Center
G. Kirby - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
C. Kirk - Northern (Arctic) Federal University
E. Kivuva - Phillips Exeter Academy
A. Kraus - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
D. Kumar - University of Wales
K. Lachlan - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
W. Lam - University of Edinburgh
A. Lampe - University of Edinburgh
C. Langman - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
M. Lees - Ormond
D. Lim - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
G. Lowther - College Station Medical Center
S. A. Lynch - College Station Medical Center
A. Magee - Northern (Arctic) Federal University
E. Maher - University of Edinburgh
S. Mansour - University of London
K. Marks - University of London
K. Martin - Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, Nottingham NG5 1PB, England
U. Maye - Alder
E. McCann - University of Wales
V. McConnell - Northern (Arctic) Federal University
M. McEntagart - University of London
R. McGowan - NHS Grampian
K. McKay - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
S. McKee - Northern (Arctic) Federal University
D. J. McMullan - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
S. McNerlan - Northern (Arctic) Federal University
S. Mehta - University of Cambridge
K. Metcalfe - University of Manchester
E. Miles - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England
S. Mohammed - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
T. Montgomery - Northern (Arctic) Federal University
D. Moore - University of Edinburgh
S. Morgan - University of Wales
A. Morris - University of Edinburgh
J. Morton - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
H. Mugalaasi - University of Wales
V. Murday - College Station Medical Center
L. Nevitt - Sheffield Childrens NHS Trust, Sheffield Reg Genet Serv, Sheffield S10 2TH, S Yorkshire, England
R. Newbury-Ecob - Avon
A. Norman - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
R. O'Shea - College Station Medical Center
C. Ogilvie - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
S. Park - University of Cambridge
M. J. Parker - Sheffield Childrens NHS Trust, Sheffield Reg Genet Serv, Sheffield S10 2TH, S Yorkshire, England
C. Patel - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
J. Paterson - University of Cambridge
S. Payne - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
J. Phipps - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
D. T. Pilz - University of Wales
D. Porteous - University of Edinburgh
N. Pratt - NHS Tayside
K. Prescott - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
S. Price - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
A. Pridham - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
A. Procter - University of Wales
H. Purnell - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
N. Ragge - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
J. Rankin - Phillips Exeter Academy
L. Raymond - University of Cambridge
D. Rice - NHS Tayside
L. Robert - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
E. Roberts - Avon
G. Roberts - Alder
J. Roberts - University of Cambridge
P. Roberts - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
A. Ross - NHS Grampian
E. Rosser - Ormond
A. Saggar - University of London
S. Samant - NHS Grampian
R. Sandford - University of Cambridge
A. Sarkar - Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, Nottingham NG5 1PB, England
S. Schweier - NHS Tayside
C. Scott - Wellcome Sanger Institute
R. Scott - Ormond
A. Selby - Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, Nottingham NG5 1PB, England
A. Seller - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
C. Sequeira - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
N. Shannon - Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, Nottingham NG5 1PB, England
S. Shanrif - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
C. Shaw-Smith - Phillips Exeter Academy
E. Shearing - Sheffield Childrens NHS Trust, Sheffield Reg Genet Serv, Sheffield S10 2TH, S Yorkshire, England
D. Shears - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
I. Simonic - University of Cambridge
D. Simpkin - Wellcome Sanger Institute
R. Singzon - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
Z. Skitt - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England
A. Smith - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
B. Smith - University of Dundee
K. Smith - Sheffield Childrens NHS Trust, Sheffield Reg Genet Serv, Sheffield S10 2TH, S Yorkshire, England
S. Smithson - Avon
L. Sneddon - Northern (Arctic) Federal University
M. Splitt - Northern (Arctic) Federal University
M. Squires - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
F. Stewart - Northern (Arctic) Federal University
H. Stewart - Oxford Radcliffe Hosp NHS Trust, Oxford Reg Genet Serv, Oxford OX3 7LJ, England
M. Suri - Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, Nottingham NG5 1PB, England
V. Sutton - Alder
G. J. Swaminathan - Wellcome Sanger Institute
E. Sweeney - Alder
K. Tatton-Brown - University of London
C. Taylor - Sheffield Childrens NHS Trust, Sheffield Reg Genet Serv, Sheffield S10 2TH, S Yorkshire, England
R. Taylor - University of London
M. Tein - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
I. K. Temple - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
J. Thomson - Chapel Allerton Hosp, Yorkshire Regonal Genet Serv, Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
J. Tolmie - College Station Medical Center
A. Torokwa - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
B. Treacy - University of Cambridge
C. Turner - Phillips Exeter Academy
P. Turnpenny - Phillips Exeter Academy
C. Tysoe - Phillips Exeter Academy
A. Vandersteen - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
P. Vasudevan - Leicester Royal Infirm NHS Trust, Univ Hosp Leicester NHS Trust, Leicestershire Genet Ctr, Leicester LE1 5WW, Leics, England
J. Vogt - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
E. Wakeling - North West London Hosp NHS Trust, North West Thames Reg Genet Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
D. Walker - Wellcome Sanger Institute
J. Waters - Ormond
A. Weber - Alder
D. Wellesley - Princess Anne Hosp, Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
M. Whiteford - College Station Medical Center
S. Widaa - Wellcome Sanger Institute
S. Wilcox - University of Cambridge
D. Williams - Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham Womens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England
N. Williams - College Station Medical Center
G. Woods - University of Cambridge
C. Wragg - Avon
M. Wright - Northern (Arctic) Federal University
F. Yang - Wellcome Sanger Institute
M. Yau - Guys Hosp, South East Thames Reg Genet Ctr, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England
N. P. Carter - Wellcome Sanger Institute
M. Parker - University of Oxford
H. V. Firth - Wellcome Sanger Institute
D. R. FitzPatrick - University of Edinburgh
C. F. Wright - Wellcome Sanger Institute
J. C. Barrett - Wellcome Sanger Institute
M. E. Hurles - Wellcome Sanger Institute
Deciphering Dev Disorders Study
Publication Details: Nature (London), Vol.519(7542), pp.223-228
Publisher: Springer Nature
Number of pages: 15
Grant note: WT098051 / Wellcome Trust Sanger Institute; Wellcome Trust Wellcome Trust Department of Health MC_PC_U127561093 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) National Institute for Health Research, through the Comprehensive Clinical Research Network; National Institutes of Health Research (NIHR) 10/H0305/83 / Cambridge South REC GEN/284/12 / Republic of Ireland REC HICF-1009-003 / Health Innovation Challenge Fund HR03006 / Scottish Funding Council 15934 / Cancer Research UK NF-SI-0510-10282 / National Institute for Health Research; National Institutes of Health Research (NIHR) MC_PC_U127561093 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) CZD/16/6 / Chief Scientist Office of the Scottish Government Health Directorates
Identifiers: 9938726808331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article