Loading…
Prevalence and architecture of de novo mutations in developmental disorders
Saved in:
| Published in: | Nature 2017, Vol.542 (7642), p.433 |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Report |
| Language: | English |
| Subjects: | |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | |
|---|---|
| cites | |
| container_end_page | |
| container_issue | 7642 |
| container_start_page | 433 |
| container_title | Nature |
| container_volume | 542 |
| creator | McRae, Jeremy F Clayton, Stephen Mason, Laura E Tivey, Adrian R Ahmed, Munaza Awada, Jana Balasubramanian, Meena Banka, Siddharth Bennett, Chris Bernhard, Birgitta Bevan, A. Paul Blair, Edward Blyth, Moira Burn, John Castle, Bruce Clasper, Susan Collins, Amanda Collinson, Morag N Dabir, Tabib Davidson, Rosemarie Davies, Sally Dean, John Donnai, Dian Ellard, Sian Ellis, Ian Everest, Sarah Foulds, Nicola Fryer, Alan Gaunt, Lorraine Goudie, David Gray, Emma Greene, Philip Gribble, Susan Henderson, Alex Hildyard, Lucy Holden, Simon Holder, Muriel Ingram, Stuart Jackson, Andrew Kaemba, Beckie Kazembe, Sandra Kinning, Esther Kraus, Alison Kumar, V. K. Ajith Lachlan, Katherine Lam, Wayne Lim, Derek Longman, Cheryl Lynch, Sally A Maher, Eddy Maye, Una McKay, Kirsten McWilliam, Catherine Metcalfe, Kay Morgan, Sian Murday, Victoria Murphy, Helen Nemeth, Andrea Nevitt, Louise Newbury-Ecob, Ruth Park, Soo-Mi Paterson, Joan Payne, Stewart Perrett, Daniel Pratt, Norman Quarrell, Oliver Randall, Josh Rankin, Julia Raymond, Lucy Robert, Leema Roberts, Paul Saggar, Anand Samant, Shalaka Sampson, Julian Sandford, Richard Selby, Ann Sequeira, Cheryl Shearing, Emma Smith, Audrey Smith, Kath Splitt, Miranda Suri, Mohnish Sutton, Vivienne Tatton-Brown, Kate Temple, I. Karen Turner, Claire Varghese, Vinod Vasudevan, Pradeep Vogt, Julie Wakeling, Emma Wilcox, Sarah Williams, Denise Williams, Nicola Wilson, Louise Wright, Michael Yates, Laura Yau, Michael Wright, Caroline F FitzPatrick, David R Barrett, Jeffrey C |
| description | |
| doi_str_mv | 10.1038/nature21062 |
| format | report |
| fullrecord | <record><control><sourceid>gale</sourceid><recordid>TN_cdi_gale_infotracmisc_A482205029</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A482205029</galeid><sourcerecordid>A482205029</sourcerecordid><originalsourceid>FETCH-gale_infotracmisc_A4822050293</originalsourceid><addsrcrecordid>eNqNjbsKwjAYRjMoWC-TLxBwVv-kF-MoogguDu4lJH81kiaSpH1-K_gATh8czuEjZMlgwyAXWydTF5AzqPiIZABcrEHk1YRMY3wBQMl2RUaut4C9tOgUUuk0lUE9TUL1balvqEbqfO9p2yWZjHeRGjfAHq1_t-iStFSb6IPGEOdk3EgbcfHbGVmdT_fjZf0YDmrjGp-CVK2Jqj4UgnMoge_z_6wP6jNBxg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype></control><display><type>report</type><title>Prevalence and architecture of de novo mutations in developmental disorders</title><source>Springer Nature - Connect here FIRST to enable access</source><creator>McRae, Jeremy F ; Clayton, Stephen ; Mason, Laura E ; Tivey, Adrian R ; Ahmed, Munaza ; Awada, Jana ; Balasubramanian, Meena ; Banka, Siddharth ; Bennett, Chris ; Bernhard, Birgitta ; Bevan, A. Paul ; Blair, Edward ; Blyth, Moira ; Burn, John ; Castle, Bruce ; Clasper, Susan ; Collins, Amanda ; Collinson, Morag N ; Dabir, Tabib ; Davidson, Rosemarie ; Davies, Sally ; Dean, John ; Donnai, Dian ; Ellard, Sian ; Ellis, Ian ; Everest, Sarah ; Foulds, Nicola ; Fryer, Alan ; Gaunt, Lorraine ; Goudie, David ; Gray, Emma ; Greene, Philip ; Gribble, Susan ; Henderson, Alex ; Hildyard, Lucy ; Holden, Simon ; Holder, Muriel ; Ingram, Stuart ; Jackson, Andrew ; Kaemba, Beckie ; Kazembe, Sandra ; Kinning, Esther ; Kraus, Alison ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Lam, Wayne ; Lim, Derek ; Longman, Cheryl ; Lynch, Sally A ; Maher, Eddy ; Maye, Una ; McKay, Kirsten ; McWilliam, Catherine ; Metcalfe, Kay ; Morgan, Sian ; Murday, Victoria ; Murphy, Helen ; Nemeth, Andrea ; Nevitt, Louise ; Newbury-Ecob, Ruth ; Park, Soo-Mi ; Paterson, Joan ; Payne, Stewart ; Perrett, Daniel ; Pratt, Norman ; Quarrell, Oliver ; Randall, Josh ; Rankin, Julia ; Raymond, Lucy ; Robert, Leema ; Roberts, Paul ; Saggar, Anand ; Samant, Shalaka ; Sampson, Julian ; Sandford, Richard ; Selby, Ann ; Sequeira, Cheryl ; Shearing, Emma ; Smith, Audrey ; Smith, Kath ; Splitt, Miranda ; Suri, Mohnish ; Sutton, Vivienne ; Tatton-Brown, Kate ; Temple, I. Karen ; Turner, Claire ; Varghese, Vinod ; Vasudevan, Pradeep ; Vogt, Julie ; Wakeling, Emma ; Wilcox, Sarah ; Williams, Denise ; Williams, Nicola ; Wilson, Louise ; Wright, Michael ; Yates, Laura ; Yau, Michael ; Wright, Caroline F ; FitzPatrick, David R ; Barrett, Jeffrey C</creator><creatorcontrib>McRae, Jeremy F ; Clayton, Stephen ; Mason, Laura E ; Tivey, Adrian R ; Ahmed, Munaza ; Awada, Jana ; Balasubramanian, Meena ; Banka, Siddharth ; Bennett, Chris ; Bernhard, Birgitta ; Bevan, A. Paul ; Blair, Edward ; Blyth, Moira ; Burn, John ; Castle, Bruce ; Clasper, Susan ; Collins, Amanda ; Collinson, Morag N ; Dabir, Tabib ; Davidson, Rosemarie ; Davies, Sally ; Dean, John ; Donnai, Dian ; Ellard, Sian ; Ellis, Ian ; Everest, Sarah ; Foulds, Nicola ; Fryer, Alan ; Gaunt, Lorraine ; Goudie, David ; Gray, Emma ; Greene, Philip ; Gribble, Susan ; Henderson, Alex ; Hildyard, Lucy ; Holden, Simon ; Holder, Muriel ; Ingram, Stuart ; Jackson, Andrew ; Kaemba, Beckie ; Kazembe, Sandra ; Kinning, Esther ; Kraus, Alison ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Lam, Wayne ; Lim, Derek ; Longman, Cheryl ; Lynch, Sally A ; Maher, Eddy ; Maye, Una ; McKay, Kirsten ; McWilliam, Catherine ; Metcalfe, Kay ; Morgan, Sian ; Murday, Victoria ; Murphy, Helen ; Nemeth, Andrea ; Nevitt, Louise ; Newbury-Ecob, Ruth ; Park, Soo-Mi ; Paterson, Joan ; Payne, Stewart ; Perrett, Daniel ; Pratt, Norman ; Quarrell, Oliver ; Randall, Josh ; Rankin, Julia ; Raymond, Lucy ; Robert, Leema ; Roberts, Paul ; Saggar, Anand ; Samant, Shalaka ; Sampson, Julian ; Sandford, Richard ; Selby, Ann ; Sequeira, Cheryl ; Shearing, Emma ; Smith, Audrey ; Smith, Kath ; Splitt, Miranda ; Suri, Mohnish ; Sutton, Vivienne ; Tatton-Brown, Kate ; Temple, I. Karen ; Turner, Claire ; Varghese, Vinod ; Vasudevan, Pradeep ; Vogt, Julie ; Wakeling, Emma ; Wilcox, Sarah ; Williams, Denise ; Williams, Nicola ; Wilson, Louise ; Wright, Michael ; Yates, Laura ; Yau, Michael ; Wright, Caroline F ; FitzPatrick, David R ; Barrett, Jeffrey C</creatorcontrib><identifier>ISSN: 0028-0836</identifier><identifier>DOI: 10.1038/nature21062</identifier><language>eng</language><publisher>Nature Publishing Group</publisher><subject>Developmental disabilities ; Distribution ; Genetic aspects ; Genetic disorders</subject><ispartof>Nature, 2017, Vol.542 (7642), p.433</ispartof><rights>COPYRIGHT 2017 Nature Publishing Group</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>776,780,4476,27901</link.rule.ids></links><search><creatorcontrib>McRae, Jeremy F</creatorcontrib><creatorcontrib>Clayton, Stephen</creatorcontrib><creatorcontrib>Mason, Laura E</creatorcontrib><creatorcontrib>Tivey, Adrian R</creatorcontrib><creatorcontrib>Ahmed, Munaza</creatorcontrib><creatorcontrib>Awada, Jana</creatorcontrib><creatorcontrib>Balasubramanian, Meena</creatorcontrib><creatorcontrib>Banka, Siddharth</creatorcontrib><creatorcontrib>Bennett, Chris</creatorcontrib><creatorcontrib>Bernhard, Birgitta</creatorcontrib><creatorcontrib>Bevan, A. Paul</creatorcontrib><creatorcontrib>Blair, Edward</creatorcontrib><creatorcontrib>Blyth, Moira</creatorcontrib><creatorcontrib>Burn, John</creatorcontrib><creatorcontrib>Castle, Bruce</creatorcontrib><creatorcontrib>Clasper, Susan</creatorcontrib><creatorcontrib>Collins, Amanda</creatorcontrib><creatorcontrib>Collinson, Morag N</creatorcontrib><creatorcontrib>Dabir, Tabib</creatorcontrib><creatorcontrib>Davidson, Rosemarie</creatorcontrib><creatorcontrib>Davies, Sally</creatorcontrib><creatorcontrib>Dean, John</creatorcontrib><creatorcontrib>Donnai, Dian</creatorcontrib><creatorcontrib>Ellard, Sian</creatorcontrib><creatorcontrib>Ellis, Ian</creatorcontrib><creatorcontrib>Everest, Sarah</creatorcontrib><creatorcontrib>Foulds, Nicola</creatorcontrib><creatorcontrib>Fryer, Alan</creatorcontrib><creatorcontrib>Gaunt, Lorraine</creatorcontrib><creatorcontrib>Goudie, David</creatorcontrib><creatorcontrib>Gray, Emma</creatorcontrib><creatorcontrib>Greene, Philip</creatorcontrib><creatorcontrib>Gribble, Susan</creatorcontrib><creatorcontrib>Henderson, Alex</creatorcontrib><creatorcontrib>Hildyard, Lucy</creatorcontrib><creatorcontrib>Holden, Simon</creatorcontrib><creatorcontrib>Holder, Muriel</creatorcontrib><creatorcontrib>Ingram, Stuart</creatorcontrib><creatorcontrib>Jackson, Andrew</creatorcontrib><creatorcontrib>Kaemba, Beckie</creatorcontrib><creatorcontrib>Kazembe, Sandra</creatorcontrib><creatorcontrib>Kinning, Esther</creatorcontrib><creatorcontrib>Kraus, Alison</creatorcontrib><creatorcontrib>Kumar, V. K. Ajith</creatorcontrib><creatorcontrib>Lachlan, Katherine</creatorcontrib><creatorcontrib>Lam, Wayne</creatorcontrib><creatorcontrib>Lim, Derek</creatorcontrib><creatorcontrib>Longman, Cheryl</creatorcontrib><creatorcontrib>Lynch, Sally A</creatorcontrib><creatorcontrib>Maher, Eddy</creatorcontrib><creatorcontrib>Maye, Una</creatorcontrib><creatorcontrib>McKay, Kirsten</creatorcontrib><creatorcontrib>McWilliam, Catherine</creatorcontrib><creatorcontrib>Metcalfe, Kay</creatorcontrib><creatorcontrib>Morgan, Sian</creatorcontrib><creatorcontrib>Murday, Victoria</creatorcontrib><creatorcontrib>Murphy, Helen</creatorcontrib><creatorcontrib>Nemeth, Andrea</creatorcontrib><creatorcontrib>Nevitt, Louise</creatorcontrib><creatorcontrib>Newbury-Ecob, Ruth</creatorcontrib><creatorcontrib>Park, Soo-Mi</creatorcontrib><creatorcontrib>Paterson, Joan</creatorcontrib><creatorcontrib>Payne, Stewart</creatorcontrib><creatorcontrib>Perrett, Daniel</creatorcontrib><creatorcontrib>Pratt, Norman</creatorcontrib><creatorcontrib>Quarrell, Oliver</creatorcontrib><creatorcontrib>Randall, Josh</creatorcontrib><creatorcontrib>Rankin, Julia</creatorcontrib><creatorcontrib>Raymond, Lucy</creatorcontrib><creatorcontrib>Robert, Leema</creatorcontrib><creatorcontrib>Roberts, Paul</creatorcontrib><creatorcontrib>Saggar, Anand</creatorcontrib><creatorcontrib>Samant, Shalaka</creatorcontrib><creatorcontrib>Sampson, Julian</creatorcontrib><creatorcontrib>Sandford, Richard</creatorcontrib><creatorcontrib>Selby, Ann</creatorcontrib><creatorcontrib>Sequeira, Cheryl</creatorcontrib><creatorcontrib>Shearing, Emma</creatorcontrib><creatorcontrib>Smith, Audrey</creatorcontrib><creatorcontrib>Smith, Kath</creatorcontrib><creatorcontrib>Splitt, Miranda</creatorcontrib><creatorcontrib>Suri, Mohnish</creatorcontrib><creatorcontrib>Sutton, Vivienne</creatorcontrib><creatorcontrib>Tatton-Brown, Kate</creatorcontrib><creatorcontrib>Temple, I. Karen</creatorcontrib><creatorcontrib>Turner, Claire</creatorcontrib><creatorcontrib>Varghese, Vinod</creatorcontrib><creatorcontrib>Vasudevan, Pradeep</creatorcontrib><creatorcontrib>Vogt, Julie</creatorcontrib><creatorcontrib>Wakeling, Emma</creatorcontrib><creatorcontrib>Wilcox, Sarah</creatorcontrib><creatorcontrib>Williams, Denise</creatorcontrib><creatorcontrib>Williams, Nicola</creatorcontrib><creatorcontrib>Wilson, Louise</creatorcontrib><creatorcontrib>Wright, Michael</creatorcontrib><creatorcontrib>Yates, Laura</creatorcontrib><creatorcontrib>Yau, Michael</creatorcontrib><creatorcontrib>Wright, Caroline F</creatorcontrib><creatorcontrib>FitzPatrick, David R</creatorcontrib><creatorcontrib>Barrett, Jeffrey C</creatorcontrib><title>Prevalence and architecture of de novo mutations in developmental disorders</title><title>Nature</title><subject>Developmental disabilities</subject><subject>Distribution</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><issn>0028-0836</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2017</creationdate><recordtype>report</recordtype><sourceid/><recordid>eNqNjbsKwjAYRjMoWC-TLxBwVv-kF-MoogguDu4lJH81kiaSpH1-K_gATh8czuEjZMlgwyAXWydTF5AzqPiIZABcrEHk1YRMY3wBQMl2RUaut4C9tOgUUuk0lUE9TUL1balvqEbqfO9p2yWZjHeRGjfAHq1_t-iStFSb6IPGEOdk3EgbcfHbGVmdT_fjZf0YDmrjGp-CVK2Jqj4UgnMoge_z_6wP6jNBxg</recordid><startdate>20170223</startdate><enddate>20170223</enddate><creator>McRae, Jeremy F</creator><creator>Clayton, Stephen</creator><creator>Mason, Laura E</creator><creator>Tivey, Adrian R</creator><creator>Ahmed, Munaza</creator><creator>Awada, Jana</creator><creator>Balasubramanian, Meena</creator><creator>Banka, Siddharth</creator><creator>Bennett, Chris</creator><creator>Bernhard, Birgitta</creator><creator>Bevan, A. Paul</creator><creator>Blair, Edward</creator><creator>Blyth, Moira</creator><creator>Burn, John</creator><creator>Castle, Bruce</creator><creator>Clasper, Susan</creator><creator>Collins, Amanda</creator><creator>Collinson, Morag N</creator><creator>Dabir, Tabib</creator><creator>Davidson, Rosemarie</creator><creator>Davies, Sally</creator><creator>Dean, John</creator><creator>Donnai, Dian</creator><creator>Ellard, Sian</creator><creator>Ellis, Ian</creator><creator>Everest, Sarah</creator><creator>Foulds, Nicola</creator><creator>Fryer, Alan</creator><creator>Gaunt, Lorraine</creator><creator>Goudie, David</creator><creator>Gray, Emma</creator><creator>Greene, Philip</creator><creator>Gribble, Susan</creator><creator>Henderson, Alex</creator><creator>Hildyard, Lucy</creator><creator>Holden, Simon</creator><creator>Holder, Muriel</creator><creator>Ingram, Stuart</creator><creator>Jackson, Andrew</creator><creator>Kaemba, Beckie</creator><creator>Kazembe, Sandra</creator><creator>Kinning, Esther</creator><creator>Kraus, Alison</creator><creator>Kumar, V. K. Ajith</creator><creator>Lachlan, Katherine</creator><creator>Lam, Wayne</creator><creator>Lim, Derek</creator><creator>Longman, Cheryl</creator><creator>Lynch, Sally A</creator><creator>Maher, Eddy</creator><creator>Maye, Una</creator><creator>McKay, Kirsten</creator><creator>McWilliam, Catherine</creator><creator>Metcalfe, Kay</creator><creator>Morgan, Sian</creator><creator>Murday, Victoria</creator><creator>Murphy, Helen</creator><creator>Nemeth, Andrea</creator><creator>Nevitt, Louise</creator><creator>Newbury-Ecob, Ruth</creator><creator>Park, Soo-Mi</creator><creator>Paterson, Joan</creator><creator>Payne, Stewart</creator><creator>Perrett, Daniel</creator><creator>Pratt, Norman</creator><creator>Quarrell, Oliver</creator><creator>Randall, Josh</creator><creator>Rankin, Julia</creator><creator>Raymond, Lucy</creator><creator>Robert, Leema</creator><creator>Roberts, Paul</creator><creator>Saggar, Anand</creator><creator>Samant, Shalaka</creator><creator>Sampson, Julian</creator><creator>Sandford, Richard</creator><creator>Selby, Ann</creator><creator>Sequeira, Cheryl</creator><creator>Shearing, Emma</creator><creator>Smith, Audrey</creator><creator>Smith, Kath</creator><creator>Splitt, Miranda</creator><creator>Suri, Mohnish</creator><creator>Sutton, Vivienne</creator><creator>Tatton-Brown, Kate</creator><creator>Temple, I. Karen</creator><creator>Turner, Claire</creator><creator>Varghese, Vinod</creator><creator>Vasudevan, Pradeep</creator><creator>Vogt, Julie</creator><creator>Wakeling, Emma</creator><creator>Wilcox, Sarah</creator><creator>Williams, Denise</creator><creator>Williams, Nicola</creator><creator>Wilson, Louise</creator><creator>Wright, Michael</creator><creator>Yates, Laura</creator><creator>Yau, Michael</creator><creator>Wright, Caroline F</creator><creator>FitzPatrick, David R</creator><creator>Barrett, Jeffrey C</creator><general>Nature Publishing Group</general><scope/></search><sort><creationdate>20170223</creationdate><title>Prevalence and architecture of de novo mutations in developmental disorders</title><author>McRae, Jeremy F ; Clayton, Stephen ; Mason, Laura E ; Tivey, Adrian R ; Ahmed, Munaza ; Awada, Jana ; Balasubramanian, Meena ; Banka, Siddharth ; Bennett, Chris ; Bernhard, Birgitta ; Bevan, A. Paul ; Blair, Edward ; Blyth, Moira ; Burn, John ; Castle, Bruce ; Clasper, Susan ; Collins, Amanda ; Collinson, Morag N ; Dabir, Tabib ; Davidson, Rosemarie ; Davies, Sally ; Dean, John ; Donnai, Dian ; Ellard, Sian ; Ellis, Ian ; Everest, Sarah ; Foulds, Nicola ; Fryer, Alan ; Gaunt, Lorraine ; Goudie, David ; Gray, Emma ; Greene, Philip ; Gribble, Susan ; Henderson, Alex ; Hildyard, Lucy ; Holden, Simon ; Holder, Muriel ; Ingram, Stuart ; Jackson, Andrew ; Kaemba, Beckie ; Kazembe, Sandra ; Kinning, Esther ; Kraus, Alison ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Lam, Wayne ; Lim, Derek ; Longman, Cheryl ; Lynch, Sally A ; Maher, Eddy ; Maye, Una ; McKay, Kirsten ; McWilliam, Catherine ; Metcalfe, Kay ; Morgan, Sian ; Murday, Victoria ; Murphy, Helen ; Nemeth, Andrea ; Nevitt, Louise ; Newbury-Ecob, Ruth ; Park, Soo-Mi ; Paterson, Joan ; Payne, Stewart ; Perrett, Daniel ; Pratt, Norman ; Quarrell, Oliver ; Randall, Josh ; Rankin, Julia ; Raymond, Lucy ; Robert, Leema ; Roberts, Paul ; Saggar, Anand ; Samant, Shalaka ; Sampson, Julian ; Sandford, Richard ; Selby, Ann ; Sequeira, Cheryl ; Shearing, Emma ; Smith, Audrey ; Smith, Kath ; Splitt, Miranda ; Suri, Mohnish ; Sutton, Vivienne ; Tatton-Brown, Kate ; Temple, I. Karen ; Turner, Claire ; Varghese, Vinod ; Vasudevan, Pradeep ; Vogt, Julie ; Wakeling, Emma ; Wilcox, Sarah ; Williams, Denise ; Williams, Nicola ; Wilson, Louise ; Wright, Michael ; Yates, Laura ; Yau, Michael ; Wright, Caroline F ; FitzPatrick, David R ; Barrett, Jeffrey C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-gale_infotracmisc_A4822050293</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Developmental disabilities</topic><topic>Distribution</topic><topic>Genetic aspects</topic><topic>Genetic disorders</topic><toplevel>online_resources</toplevel><creatorcontrib>McRae, Jeremy F</creatorcontrib><creatorcontrib>Clayton, Stephen</creatorcontrib><creatorcontrib>Mason, Laura E</creatorcontrib><creatorcontrib>Tivey, Adrian R</creatorcontrib><creatorcontrib>Ahmed, Munaza</creatorcontrib><creatorcontrib>Awada, Jana</creatorcontrib><creatorcontrib>Balasubramanian, Meena</creatorcontrib><creatorcontrib>Banka, Siddharth</creatorcontrib><creatorcontrib>Bennett, Chris</creatorcontrib><creatorcontrib>Bernhard, Birgitta</creatorcontrib><creatorcontrib>Bevan, A. Paul</creatorcontrib><creatorcontrib>Blair, Edward</creatorcontrib><creatorcontrib>Blyth, Moira</creatorcontrib><creatorcontrib>Burn, John</creatorcontrib><creatorcontrib>Castle, Bruce</creatorcontrib><creatorcontrib>Clasper, Susan</creatorcontrib><creatorcontrib>Collins, Amanda</creatorcontrib><creatorcontrib>Collinson, Morag N</creatorcontrib><creatorcontrib>Dabir, Tabib</creatorcontrib><creatorcontrib>Davidson, Rosemarie</creatorcontrib><creatorcontrib>Davies, Sally</creatorcontrib><creatorcontrib>Dean, John</creatorcontrib><creatorcontrib>Donnai, Dian</creatorcontrib><creatorcontrib>Ellard, Sian</creatorcontrib><creatorcontrib>Ellis, Ian</creatorcontrib><creatorcontrib>Everest, Sarah</creatorcontrib><creatorcontrib>Foulds, Nicola</creatorcontrib><creatorcontrib>Fryer, Alan</creatorcontrib><creatorcontrib>Gaunt, Lorraine</creatorcontrib><creatorcontrib>Goudie, David</creatorcontrib><creatorcontrib>Gray, Emma</creatorcontrib><creatorcontrib>Greene, Philip</creatorcontrib><creatorcontrib>Gribble, Susan</creatorcontrib><creatorcontrib>Henderson, Alex</creatorcontrib><creatorcontrib>Hildyard, Lucy</creatorcontrib><creatorcontrib>Holden, Simon</creatorcontrib><creatorcontrib>Holder, Muriel</creatorcontrib><creatorcontrib>Ingram, Stuart</creatorcontrib><creatorcontrib>Jackson, Andrew</creatorcontrib><creatorcontrib>Kaemba, Beckie</creatorcontrib><creatorcontrib>Kazembe, Sandra</creatorcontrib><creatorcontrib>Kinning, Esther</creatorcontrib><creatorcontrib>Kraus, Alison</creatorcontrib><creatorcontrib>Kumar, V. K. Ajith</creatorcontrib><creatorcontrib>Lachlan, Katherine</creatorcontrib><creatorcontrib>Lam, Wayne</creatorcontrib><creatorcontrib>Lim, Derek</creatorcontrib><creatorcontrib>Longman, Cheryl</creatorcontrib><creatorcontrib>Lynch, Sally A</creatorcontrib><creatorcontrib>Maher, Eddy</creatorcontrib><creatorcontrib>Maye, Una</creatorcontrib><creatorcontrib>McKay, Kirsten</creatorcontrib><creatorcontrib>McWilliam, Catherine</creatorcontrib><creatorcontrib>Metcalfe, Kay</creatorcontrib><creatorcontrib>Morgan, Sian</creatorcontrib><creatorcontrib>Murday, Victoria</creatorcontrib><creatorcontrib>Murphy, Helen</creatorcontrib><creatorcontrib>Nemeth, Andrea</creatorcontrib><creatorcontrib>Nevitt, Louise</creatorcontrib><creatorcontrib>Newbury-Ecob, Ruth</creatorcontrib><creatorcontrib>Park, Soo-Mi</creatorcontrib><creatorcontrib>Paterson, Joan</creatorcontrib><creatorcontrib>Payne, Stewart</creatorcontrib><creatorcontrib>Perrett, Daniel</creatorcontrib><creatorcontrib>Pratt, Norman</creatorcontrib><creatorcontrib>Quarrell, Oliver</creatorcontrib><creatorcontrib>Randall, Josh</creatorcontrib><creatorcontrib>Rankin, Julia</creatorcontrib><creatorcontrib>Raymond, Lucy</creatorcontrib><creatorcontrib>Robert, Leema</creatorcontrib><creatorcontrib>Roberts, Paul</creatorcontrib><creatorcontrib>Saggar, Anand</creatorcontrib><creatorcontrib>Samant, Shalaka</creatorcontrib><creatorcontrib>Sampson, Julian</creatorcontrib><creatorcontrib>Sandford, Richard</creatorcontrib><creatorcontrib>Selby, Ann</creatorcontrib><creatorcontrib>Sequeira, Cheryl</creatorcontrib><creatorcontrib>Shearing, Emma</creatorcontrib><creatorcontrib>Smith, Audrey</creatorcontrib><creatorcontrib>Smith, Kath</creatorcontrib><creatorcontrib>Splitt, Miranda</creatorcontrib><creatorcontrib>Suri, Mohnish</creatorcontrib><creatorcontrib>Sutton, Vivienne</creatorcontrib><creatorcontrib>Tatton-Brown, Kate</creatorcontrib><creatorcontrib>Temple, I. Karen</creatorcontrib><creatorcontrib>Turner, Claire</creatorcontrib><creatorcontrib>Varghese, Vinod</creatorcontrib><creatorcontrib>Vasudevan, Pradeep</creatorcontrib><creatorcontrib>Vogt, Julie</creatorcontrib><creatorcontrib>Wakeling, Emma</creatorcontrib><creatorcontrib>Wilcox, Sarah</creatorcontrib><creatorcontrib>Williams, Denise</creatorcontrib><creatorcontrib>Williams, Nicola</creatorcontrib><creatorcontrib>Wilson, Louise</creatorcontrib><creatorcontrib>Wright, Michael</creatorcontrib><creatorcontrib>Yates, Laura</creatorcontrib><creatorcontrib>Yau, Michael</creatorcontrib><creatorcontrib>Wright, Caroline F</creatorcontrib><creatorcontrib>FitzPatrick, David R</creatorcontrib><creatorcontrib>Barrett, Jeffrey C</creatorcontrib></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>McRae, Jeremy F</au><au>Clayton, Stephen</au><au>Mason, Laura E</au><au>Tivey, Adrian R</au><au>Ahmed, Munaza</au><au>Awada, Jana</au><au>Balasubramanian, Meena</au><au>Banka, Siddharth</au><au>Bennett, Chris</au><au>Bernhard, Birgitta</au><au>Bevan, A. Paul</au><au>Blair, Edward</au><au>Blyth, Moira</au><au>Burn, John</au><au>Castle, Bruce</au><au>Clasper, Susan</au><au>Collins, Amanda</au><au>Collinson, Morag N</au><au>Dabir, Tabib</au><au>Davidson, Rosemarie</au><au>Davies, Sally</au><au>Dean, John</au><au>Donnai, Dian</au><au>Ellard, Sian</au><au>Ellis, Ian</au><au>Everest, Sarah</au><au>Foulds, Nicola</au><au>Fryer, Alan</au><au>Gaunt, Lorraine</au><au>Goudie, David</au><au>Gray, Emma</au><au>Greene, Philip</au><au>Gribble, Susan</au><au>Henderson, Alex</au><au>Hildyard, Lucy</au><au>Holden, Simon</au><au>Holder, Muriel</au><au>Ingram, Stuart</au><au>Jackson, Andrew</au><au>Kaemba, Beckie</au><au>Kazembe, Sandra</au><au>Kinning, Esther</au><au>Kraus, Alison</au><au>Kumar, V. K. Ajith</au><au>Lachlan, Katherine</au><au>Lam, Wayne</au><au>Lim, Derek</au><au>Longman, Cheryl</au><au>Lynch, Sally A</au><au>Maher, Eddy</au><au>Maye, Una</au><au>McKay, Kirsten</au><au>McWilliam, Catherine</au><au>Metcalfe, Kay</au><au>Morgan, Sian</au><au>Murday, Victoria</au><au>Murphy, Helen</au><au>Nemeth, Andrea</au><au>Nevitt, Louise</au><au>Newbury-Ecob, Ruth</au><au>Park, Soo-Mi</au><au>Paterson, Joan</au><au>Payne, Stewart</au><au>Perrett, Daniel</au><au>Pratt, Norman</au><au>Quarrell, Oliver</au><au>Randall, Josh</au><au>Rankin, Julia</au><au>Raymond, Lucy</au><au>Robert, Leema</au><au>Roberts, Paul</au><au>Saggar, Anand</au><au>Samant, Shalaka</au><au>Sampson, Julian</au><au>Sandford, Richard</au><au>Selby, Ann</au><au>Sequeira, Cheryl</au><au>Shearing, Emma</au><au>Smith, Audrey</au><au>Smith, Kath</au><au>Splitt, Miranda</au><au>Suri, Mohnish</au><au>Sutton, Vivienne</au><au>Tatton-Brown, Kate</au><au>Temple, I. Karen</au><au>Turner, Claire</au><au>Varghese, Vinod</au><au>Vasudevan, Pradeep</au><au>Vogt, Julie</au><au>Wakeling, Emma</au><au>Wilcox, Sarah</au><au>Williams, Denise</au><au>Williams, Nicola</au><au>Wilson, Louise</au><au>Wright, Michael</au><au>Yates, Laura</au><au>Yau, Michael</au><au>Wright, Caroline F</au><au>FitzPatrick, David R</au><au>Barrett, Jeffrey C</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>Prevalence and architecture of de novo mutations in developmental disorders</atitle><jtitle>Nature</jtitle><date>2017-02-23</date><risdate>2017</risdate><volume>542</volume><issue>7642</issue><spage>433</spage><pages>433-</pages><issn>0028-0836</issn><pub>Nature Publishing Group</pub><doi>10.1038/nature21062</doi></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-0836 |
| ispartof | Nature, 2017, Vol.542 (7642), p.433 |
| issn | 0028-0836 |
| language | eng |
| recordid | cdi_gale_infotracmisc_A482205029 |
| source | Springer Nature - Connect here FIRST to enable access |
| subjects | Developmental disabilities Distribution Genetic aspects Genetic disorders |
| title | Prevalence and architecture of de novo mutations in developmental disorders |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-24T10%3A01%3A12IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale&rft_val_fmt=info:ofi/fmt:kev:mtx:book&rft.genre=unknown&rft.atitle=Prevalence%20and%20architecture%20of%20de%20novo%20mutations%20in%20developmental%20disorders&rft.jtitle=Nature&rft.au=McRae,%20Jeremy%20F&rft.date=2017-02-23&rft.volume=542&rft.issue=7642&rft.spage=433&rft.pages=433-&rft.issn=0028-0836&rft_id=info:doi/10.1038/nature21062&rft_dat=%3Cgale%3EA482205029%3C/gale%3E%3Cgrp_id%3Ecdi_FETCH-gale_infotracmisc_A4822050293%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/&rft_galeid=A482205029&rfr_iscdi=true |