Prevalence and architecture of de novo mutations in developmental disorders
暂无分享,去创建一个
Joan | Caroline | Rajan | Procter | Debbie | Prescott | Paul S. Batstone | Rankin | Siddharth | Nicola | Josh | Joshua C Randall | Barrett | Pilz | Tomas W. Fitzgerald | Krishnappa | Stephen | Tanya | Balasubramanian | Norman | Lucy | Banka | Rahbari | Julie | Payne | Baralle | Kirsty | Abigail | Poulton | Eileen | G. J. Swaminathan | M. Hurles | J. Barrett | R. Sandford | M. Bitner-Glindzicz | S. Wilcox | M. Pollard | D. Baralle | Alison M. Male | L. Gaunt | J. Clayton-Smith | I. Simonic | Soo-Mi Park | S. Mehta | H. Firth | S. Gribble | A. Tivey | S. Ellard | K. Prescott | C. Shaw-Smith | C. Nellåker | Y. Crow | I. Temple | J. Hurst | Simon Brent | E. Prigmore | A. Seller | E. Gray | J. Goodship | A. Clarke | A. Middleton | J. McRae | D. Goudie | S. Widaa | S. Holden | M. Irving | S. Mansour | S. Holder | H. Stewart | A. Fry | D. Pilz | Ben Hutton | Z. Miedzybrodzka | K. Lachlan | R. Newbury-Ecob | C. Wright | R. McGowan | N. Canham | S. Davies | H. Gill | B. Kerr | S. McKee | J. Morton | M. Parker | J. Rankin | S. Banka | D. Perrett | S. Douzgou | U. Kini | M. Lees | F. Stewart | A. Fryer | S. Sharif | H. Kingston | M. McEntagart | Pratt | J. Sampson | S. Tomkins | S. Mohammed | E. Wilkinson | R. Rahbari | M. Tein | T. Singh | A. Sifrim | T. Homfray | S. Smithson | Irina Colgiu | C. Tysoe | M. Whiteford | T. Cole | Kath Smith | A. Brady | Liu He | N. Pratt | Diana S. Johnson | S. Lynch | M. Blyth | E. Sheridan | M. Tischkowitz | A. Barnicoat | N. Foulds | C. Wragg | E. Hobson | Philip | K. Ambridge | Stuart Aitken | J. Poulton | V. Mcconnell | L. Greenhalgh | R. Kelsell | Raymond | F. Flinter | C. Ogilvie | V. Murday | C. Langman | Oliver | T. Bayzetinova | S. Clayton | N. Krishnappa | D. Rajan | N. Akawi | U. Anjum | H. Archer | R. Armstrong | M. Balasubramanian | P. Batstone | J. Berg | B. Bernhard | A. Bevan | D. Bohanna | L. Bourdon | D. Bourn | C. Brewer | K. Brunstrom | B. Castle | K. Chandler | S. Clasper | F. Connell | N. Cooper | H. Cox | L. Cresswell | T. Dabir | R. Davidson | C. Deshpande | G. Devlin | A. Dixit | C. Donnelly | D. Donnelly | A. Douglas | A. Duncan | J. Eason | K. Evans | S. Everest | T. Fendick | R. Fisher | C. Gardiner | N. Ghali | P. Greene | L. Harrison | R. Hawkins | S. Hellens | A. Henderson | G. Hollingsworth | M. Humphreys | S. Ingram | J. Jarvis | L. Jenkins | E. Jones | D. Josifova | S. Joss | B. Kaemba | S. Kazembe | E. Kinning | G. Kirby | C. Kirk | E. Kivuva | A. Kraus | D. Kumar | W. Lam | A. Lampe | D. Lim | G. Lowther | A. Magee | E. Maher | K. Marks | K. Martin | U. Maye | E. McCann | K. McKay | K. Metcalfe | E. Miles | T. Montgomery | D. Moore | S. Morgan | H. Mugalaasi | L. Nevitt | A. Norman | M. Parker | C. Patel | J. Paterson | S. Payne | J. Phipps | S. Price | A. Pridham | H. Purnell | N. Ragge | L. Raymond | D. Rice | L. Robert | G. Roberts | P. Roberts | A. Ross | E. Rosser | A. Saggar | S. Samant | A. Sarkar | C. Sequeira | N. Shannon | E. Shearing | D. Shears | R. Singzon | Z. Skitt | L. Sneddon | M. Splitt | M. Squires | M. Suri | V. Sutton | E. Sweeney | K. Tatton-Brown | C. Taylor | R. Taylor | J. Thomson | A. Torokwa | B. Treacy | C. Turner | A. Vandersteen | P. Vasudevan | J. Vogt | E. Wakeling | J. Waters | A. Weber | D. Wellesley | N. Williams | G. Woods | M. Yau | H. Firth | A. Donaldson | C. Longman | O. Quarrell | M. Holder | D. McMullan | Parthiban Vijayarangakannan | Rohan Taylor | D. Donnai | K. Ong | Munaza Ahmed | F. Jeremy | Clayton | Fitzgerald | W. Tomas | Kaplanis | Joanna | Prigmore | Elena | Diana | Sifrim | Alejandro | Aitken | Stuart | Akawi | Nádia | Alvi | Mohsan | Ambridge | M. Daniel | Bayzetinova | Jones | D. Wendy | King | Daniel | Hayley Louise | Armstrong | Ruth | Awada | Jana | Meena | Chirag | Paterson | Stewart | Perrett | Phipps | T. Daniela | Pollard | Martin | Pottinger | Katrina | Price | Sue | Pridham | Annie | Purnell | Hellen | Quarrell | Ragge | Raheleh | Randall | Júlia | Rice | Robert | Leema | Roberts | A. Dobbie | L. Wilson | W. Jones | D. King | D. Barrett | L. E. Mason | J. Kaplanis | V. Clowes | L. Yates | V. Harrison | I. Scurr | F. Elmslie | Audrey Smith | M. Collinson | C. Mcwilliam | S. Schweiger | A. Fryer | I. Ellis | L. Islam | S. Hewitt | L. Bradley | Jonathan Roberts | Lucy Hildyard | Andrew M. Jackson | Helen R Murphy | S. Naik | V. Varghese | Sarah Wallwark | Denise Williams | W. Lam | A. Collins | D. Cilliers | D. Bunyan | Soo-Mi Park | A. Procter | S. Holder | P. Turnpenny | C. Bennett | Z. Miedzybrodzka | Eamonn Sheridan | R. Harrison | A. Selby | S. Brent | J. Waters | J. Dean | Michael Wright | Volker Straub | C. Pottinger | R. Scott | A. Green | A. Coates | P. Jones | J. Burn | G. Cross | L. Jenkins | S. McNerlan | E. Roberts | Angus Clarke | J. Awada | Sofia Douzgou | Siddharth Banka | D. FitzPatrick | Mariella D’Alessandro | Audrey Smith | I. Karen Temple | Joan Paterson | Marc Tischkowitz | R. O’Shea | Jeremy F. Stephen Tomas W. Joanna Elena Diana Alejandro S McRae Clayton Fitzgerald Kaplanis Prigmore | M. Alvi | D. Baty | Edward Blair | Elena Chatzimichali | Dylan de Vries | Richard J. Gibbons | V. K. A. Kumar | A. Nemeth | Raheleh Rahbari | Lorraine Gaunt | Ruth McGowan | Dominic J. McMullan | M. Parker | Usha Kini | Charles Shaw-Smith | Diana Johnson | David J. Bunyan | T. Cole | Andrew Jackson | Michael J. Parker | M. Ahmed | G. Swaminathan | Denise K. Williams | Judith Goodship | Michael J. Parker | Julia Rankin | Stuart Aitken | Anna Middleton | Helen S. Stewart | Jeremy F. McRae | Stephen Clayton | Joanna Kaplanis | Elena Prigmore | Alejandro Sifrim | Stuart Aitken | Nadia Akawi | Mohsan Alvi | Kirsty Ambridge | Tanya Bayzetinova | Netravathi Krishnappa | Adrian R. Tivey | Uruj Anjum | Hayley Archer | Jana Awada | Meena Balasubramanian | Diana Baralle | Angela Barnicoat | Paul Batstone | David Baty | Birgitta Bernhard | Moira Blyth | David Bohanna | Louise Bourdon | David Bourn | Simon Brent | Kate Brunstrom | Natalie Canham | Bruce Castle | Elena Chatzimichali | Deirdre Cilliers | Susan Clasper | Virginia Clowes | Trevor R Cole | Irina Colgiu | Amanda Collins | Fiona Connell | Lara Cresswell | Yanick Crow | Mariella D’Alessandro | Tabib Dabir | Sally Davies | Gemma Devlin | Angus Dobbie | Angela Douglas | Jacqueline Eason | Ian Ellis | Frances Elmslie | Sarah Everest | Tina Fendick | Nicola Foulds | Andrew E Fry | Alan Fryer | Neeti Ghali | David Goudie | Lynn Greenhalgh | Victoria Harrison | Liu He | Stephen Hellens | Lucy Hildyard | Susan Holder | Georgina Hollingsworth | Tessa Homfray | Mervyn Humphreys | Stuart Ingram | Melita Irving | Lily Islam | Elizabeth A. Jones | Dragana Josifova | Shelagh Joss | Beckie Kaemba | Sandra Kazembe | Rosemary Kelsell | Helen Kingston | Esther Kinning | Gail Kirby | Claire Kirk | Emma Kivuva | V. K. Ajith Kumar | Katherine Lachlan | Anne Lampe | Cheryl Longman | Gordon Lowther | Sally A. Lynch | Alex Magee | Alison Male | Una Maye | Vivienne McConnell | Meriel McEntagart | Kirsten McKay | Susan McNerlan | Hood Mugalaasi | Victoria Murday | Andrea Nemeth | Louise Nevitt | Andrew Norman | Michael J. Parker | Stewart Payne | Julie Phipps | Daniela T. Pilz | Caroline Pottinger | Joanna Poulton | Norman Pratt | Katrina Prescott | Abigail Pridham | Hellen Purnell | Nicola Ragge | Josh Randall | Lucy Raymond | Jonathan Roberts | Anand Saggar | Shalaka Samant | Julian Sampson | Susann Schweiger | Ingrid Scurr | Ann Selby | Anneke Seller | Cheryl Sequeira | Nora Shannon | Emma Shearing | Debbie Shears | Eamonn Sheridan | Roldan Singzon | Zara Skitt | Linda Sneddon | Fiona J Stewart | Volker Straub | Elizabeth Sweeney | Kate Tatton-Brown | Mark Tein | Susan Tomkins | Audrey Torokwa | Becky Treacy | Peter Turnpenny | Carolyn Tysoe | Anthony Vandersteen | Pradeep Vasudevan | Parthiban Vijayarangakannan | Emma Wakeling | Sarah Wallwark | Diana Wellesley | Margo Whiteford | Sara Widaa | Sarah Wilcox | Emily Wilkinson | Louise Wilson | Christopher Wragg | Laura Yates | Michael Yau | Chris Nellåker | Helen V. Firth | Matthew E. Hurles | J. Goodship | Ruth McGowan | Julian Sampson | Andrea Nemeth | Emma V. Gray | Moira Blyth | A. P. Bevan | Nadia Akawi | Diana Baralle | Trevor Cole | Yanick Crow | Angela E. Douglas | Rosemary Kelsell | Helen Kingston | S. Lynch | Shalaka Samant | Susann Schweiger | Debbie Shears | Fiona Stewart | Helen Stewart | Michael Yau | Chris Nellåker | Michael W. Parker | Andrea M. Nemeth | Yanick J. Crow | Sally J Davies | A. Fry | Paul Batstone | C. Nellåker | Dhavendra Kumar
[1] R. Pfundt,et al. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature , 2016, European Journal of Human Genetics.
[2] Tomas W. Fitzgerald,et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing , 2016, Nature Genetics.
[3] L. Vissers,et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability , 2016, Nature Neuroscience.
[4] Sharyn A. Lincoln,et al. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features , 2016, Human Genetics.
[5] J. Vockley,et al. New observations on maternal age effect on germline de novo mutations , 2016, Nature Communications.
[6] Arthur Wuster,et al. Timing, rates and spectra of human germline mutation , 2015, Nature Genetics.
[7] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[8] Morad Ansari,et al. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families , 2015, Nature Genetics.
[9] M. Thoma,et al. Interpregnancy Intervals in the United States: Data From the Birth Certificate and the National Survey of Family Growth. , 2015, National vital statistics reports : from the Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics System.
[10] Alejandro Sifrim,et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data , 2015, The Lancet.
[11] Boris Yamrom,et al. The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.
[12] Christopher S. Poultney,et al. Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.
[13] Epilepsy Phenome,et al. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. , 2014, American journal of human genetics.
[14] Stephan J Sanders,et al. A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.
[15] Alison M. Meynert,et al. Variant detection sensitivity and biases in whole genome and exome sequencing , 2014, BMC Bioinformatics.
[16] Andrew Zisserman,et al. Diagnostically relevant facial gestalt information from ordinary photos , 2014, eLife.
[17] E. Haan,et al. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. , 2014, American journal of human genetics.
[18] Sven Bergmann,et al. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. , 2014, American journal of human genetics.
[19] E. Banks,et al. De novo mutations in schizophrenia implicate synaptic networks , 2014, Nature.
[20] Caroline F. Wright,et al. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation , 2013, Nucleic Acids Res..
[21] C. Whibley,et al. Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study , 2013, The Lancet.
[22] Arthur Wuster,et al. DeNovoGear: de novo indel and point mutation discovery and phasing , 2013, Nature Methods.
[23] D. Goldstein,et al. Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes , 2013, PLoS genetics.
[24] Fernando De la Torre,et al. Supervised Descent Method and Its Applications to Face Alignment , 2013, 2013 IEEE Conference on Computer Vision and Pattern Recognition.
[25] L. Vissers,et al. Point mutations as a source of de novo genetic disease. , 2013, Current opinion in genetics & development.
[26] Murim Choi,et al. De novo mutations in histone modifying genes in congenital heart disease , 2013, Nature.
[27] J. Rosenfeld,et al. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. , 2013, American journal of human genetics.
[28] B. V. van Bon,et al. Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.
[29] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.
[30] S. Steinberg,et al. Rate of de novo mutations and the importance of father’s age to disease risk , 2012, Nature.
[31] Kenny Q. Ye,et al. De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.
[32] Michael F. Walker,et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.
[33] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[34] Gregory M. Cooper,et al. A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.
[35] H. Ropers. Genetics of early onset cognitive impairment. , 2010, Annual review of genomics and human genetics.
[36] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[37] David A. McAllester,et al. Object Detection with Discriminatively Trained Part Based Models , 2010, IEEE Transactions on Pattern Analysis and Machine Intelligence.
[38] I. Krantz,et al. SMC1A expression and mechanism of pathogenicity in probands with X‐Linked Cornelia de Lange syndrome , 2009, Human mutation.
[39] Marcel H. Schulz,et al. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. , 2009, American journal of human genetics.
[40] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[41] C. Shaw-Smith,et al. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects , 2009, Genetics in Medicine.
[42] A. Wilkie,et al. The molecular basis of genetic dominance. , 1994, Journal of medical genetics.
[43] Binocar. Congenital Anomaly Statistics 2010: England and Wales , 2011 .
[44] Claude-Alain H. Roten,et al. Fast and accurate short read alignment with Burrows–Wheeler transform , 2009, Bioinform..
[45] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .