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CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Yanick Crow, D Mariella, Alessandro,Tabib Dabir,Rosemarie Davidson,Sally Davies,Dylan de Vries,John Dean,Charu Deshpande,Gemma Devlin,Abhijit Dixit,Angus Dobbie,Alan Donaldson,Dian Donnai,Deirdre Donnelly, Carina Donnelly,Angela Douglas, So, a Douzgou,Alexis Duncan,Jacqueline Eason,Sian Ellard,Ian Ellis,Frances Elmslie, Karenza Evans,Sarah Everest,Tina Fendick,Richard Fisher,Frances Flinter,Nicola Foulds,Andrew Fry,Alan Fryer,Carol Gardiner,Lorraine Gaunt,Neeti Ghali,Richard Gibbons,Harinder Gill,Judith Goodship,David Goudie,Emma Gray,Andrew Green,Philip Greene,Lynn Greenhalgh,Susan Gribble,Rachel Harrison,Lucy Harrison,Victoria Harrison,Rose Hawkins,Liu He,Stephen Hellens,Alex Henderson,Sarah Hewitt,Lucy Hildyard,Emma Hobson,Simon Holden,Muriel Holder,Susan Holder,Georgina Hollingsworth,Tessa Homfray,Mervyn Humphreys,Jane Hurst,Ben Hutton,Stuart Ingram,Melita Irving,Lily Islam,Andrew Jackson,Joanna Jarvis,Lucy Jenkins,Diana Johnson,Elizabeth 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 A. 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 McNerlan,Catherine McWilliam,Sarju 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 Nemeth,Louise Nevitt,Andrew Norman, O Rosie,Shea,Caroline Ogilvie,Kai-Ren Ong,Soo-Mi Park,Michael J. Parker,Chirag Patel,Joan Paterson,Stewart Payne,Daniel Perrett,Julie Phipps,Daniela T. Pilz,Martin Pollard,Caroline Pottinger,Joanna Poulton,Norman Pratt,Katrina Prescott, Abigail Pridham,Annie Procter, Hellen Purnell,Oliver Quarrell,Nicola Ragge,Raheleh Rahbari,Josh Randall,Lucy Raymond,Debbie Rice,Leema Robert,Eileen Roberts,Jonathan Roberts,Paul Roberts, Gillian Roberts,Alison Ross,Elisabeth Rosser,Anand Saggar,Shalaka Samant,Julian Sampson,Richard Sandford,Ajoy Sarkar,Susann Schweiger,Richard Scott,Ingrid Scurr,Ann Selby,Anneke Seller, Cheryl Sequeira,Nora Shannon,Saba Sharif,Charles Shaw-Smith,Debbie Shears,Eamonn Sheridan,Ingrid Simonic,Roldan Singzon,Zara Skitt,Audrey Smith,Kath Smith,Sarah Smithson,Linda Sneddon,Miranda Splitt,Miranda Squires,Fiona Stewart,Helen Stewart,Volker Straub,Mohnish Suri,Vivienne Sutton,Ganesh Jawahar Swaminathan,Elizabeth Sweeney,Kate Tatton-Brown, Cat Taylor,Rohan Taylor,Mark Tein,Jenny Thomson,Marc Tischkowitz,Susan Tomkins, Audrey Torokwa,Becky Treacy,Claire Turner,Peter Turnpenny,Carolyn Tysoe,Anthony Vandersteen,Vinod Varghese,Pradeep 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 Wilson,Geoff Woods,Christopher Wragg,Michael Wright,Laura Yates,Michael Yau, Chris Nellåker,Michael Parker,Caroline F. Wright,David R. FitzPatrick
semanticscholar（2019）
引用57浏览0引用
57
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Not All SCN1A Epileptic Encephalopathies Are Dravet Syndrome
Lynette G. Sadleir, Emily Mountier,Deepak Gill,Suzanne L. Davis,Charuta Joshi, Catherine DeVile,Manju A. Kurian,Simone Mandelstam,Elaine Wirrell,Katherine C. Nickels, Hema R. Murali,Gemma L. Carvill, Candace T. Myers,Heather C. Mefford,Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer,Alejandro Sifrim, Alex Henderson, Alex Magee,Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates,Andrea H. Németh,Andrew E. Fry,Andrew Green, Andrew Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas,Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Katrin Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Carol Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith,Charu Deshpande, Cheryl Longman, Cheryl Sequeira,Chirag J. Patel, Chris Bennett, Chris Nellåker,Christopher Wragg, Claire Kirk, Claire Turner,Daniel King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie,David J. Bunyan,David Jones, D. J. Moore,David R. FitzPatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim,Dhavendra Kumar, Emma McCann, Dian Donnai,Diana Baralle, Diana Johnson, Diana Rajan, Diana Wellesley, Dominic McMullan, Douglas J. Simpkin,Dragana Josifova,Dylan de Vries,Eamonn Sheridan, E.R. Maher, Edward Blair, Eileen Roberts, Elena Chatzimichali,Elena Prigmore, Elisabeth Rosser,Elizabeth A. Jones,Elizabeth Sweeney, Emily Wilkinson, Emma Gray, Pipelines Staff, Emma Hobson, Emma Kivuva, Emma Miles, Emma Shearing, Emma Wakeling, Esther Kinning, Eugene Bragin,Eve L. Coomber,Fengtang Yang, Fiona Connell,Fiona Stewart, Frances Elmslie, Frances Flinter, Ganesh Swaminathan, Gail Kirby, Gareth Cross, Gemma Devlin, Geoff Woods, Georgina Hollingsworth, Gillian Roberts, G. R. Lowther,Harinder Gill, Hayley Archer, Helen Cox, Helen V. Firth, Helen Kingston,Helen Murphy, Helen Stewart, Hellen Purnell, Hood Mugalaasi,Ian O. Ellis, Ingrid Scurr, Ingrid Simonic, Irina Colgiu, Jacqueline Eason, Jana Awada, Jane A. Hurst,Jeffrey C. Barrett, Jenny Morton, Jenny Thomson,Jeremy F. McRae,Jill Clayton‐Smith, Joan Paterson, Joanna Jarvis,Joanna Kaplanis,Joanna Poulton, J Burn, J.L. Burton, John Dean, John Tolmie,Jonathan Berg, Jonathan Roberts, Jonathon Waters, Josh Randall, Judith Goodship, Julia Rankin,Julian R. Sampson, Julie Phipps,Julie Vogt, Kai‐Ren Ong, Karen Marks, Kate Brunstrom, Kate Chandler, Kate Tatton‐Brown, Kath Smith,Katherine I. Morley,Katherine Lachlan, I. Karen Temple,Katherine Martin, Katrina Prescott, Kay Metcalfe, Kirsten McKay, Kirsty Ambridge, Lara Cresswell,Laura Mason,Laura Yates, Leema Robert, Lily Islam, Linda Sneddon, Lisa C. Bradley, Lina He,Lorraine Gaunt, Louise Bourdon, Louise Brueton, Louise Nevitt,Louise Wilson, Lucy Harrison, Lucy Hilyard, Lucy Jenkins, Lucy Raymond, Lynn Greenhalgh,Marc Tischkowitz, Margo Whiteford, Margriet van Kogelenberg, Maria Bitner‐Glindzicz, Mariella D’Alessandro, Martin Pollard,Matthew E. Hurles,Meena Balasubramanian, Melissa Lees,Melita Irving, Meriel McEntagart, Mervyn Humphreys, M.W. Parker, Michael Wright, Michael Yau, Miranda Splitt, Miranda Squires,Mohnish Suri, Mohsan Alvi, Moira Blyth, Morag N. Collinson, Maghfoor Ahmed, Muriel Holder,Nadia Akawi, Natalie Canham,Neeti Ghali, Netravathi Krishnappa,Nicola Cooper, Nicola Foulds,Nicola Ragge,Nicola Williams, Nigel P. Carter, Nora Shannon, Norman Pratt, Oliver Quarrell, Paul Batstone,Paul Roberts, Peter Ellis,Peter D. Turnpenny, Philip Greene,Phil Jones, Pradeep Vasudevan, Rachel Harrison,Raheleh Rahbari,Ray Miller, Richard Fisher,Richard J. Gibbons,Richard Sandford, Richard Scott,Robert C. Andrews, Rohan Taylor, Roldan Singzon, Rose Hawkins, Rosemarie Davidson, Rosemary E. Kelsell,Rosie O’Shea, Ruby Banerjee, Ruth Armstrong,Ruth McGowan, Ruth Newbury‐Ecob, Saba Sharif, Mark Tein, Saeed Al-Turki,Sahar Mansour,Sally Ann Lynch, Sally Davies, Sandra Kazembe,Sandrine Pereira, Sara Widaa, Sarah Edkins, Sarah Everest, Sarah Hewitt,Sarah Smithson, Sarah Wallwark, Sarah Wilcox,Sarju Mehta,Sebastian S. Gerety, Shalaka Samant,Shane McKee,Shehla Mohammed,Shelagh Joss, Sian Ellard, Siân Morgan,Siddharth Banka, Simon Brent, Simon Holden, Sofia Douzgou,Soo‐Mi Park, Stephen Clayton, Stephen Hellens, Stewart J. Payne,Stuart Aitken, Stuart Ingram, Sue Price, Susan Clasper, Susan Gribble, Susan Holder, Susan McNerlan, Susan Tomkins, Susann Schweiger, Suzannah Bumpstead,Swati Naik, Tabib Dabir, Tanya Bayzetinova, Tara Montgomery,Tarjinder Singh,Tessa Homfray, Tina Fendick,Tomas Fitzgerald, Trevor Cole, Una Maye, Uruj Anjum, Usha Kini, Vipul Kumar, Victoria Harrison, Victoria Murday, Vijaya Parthiban,Vinod Varghese, Virginia Clowes, Vivienne McConnell, V. Reid Sutton,Volker Straub, Wayne Lam,Wendy D. Jones,Yanick J. Crow, Zara Skitt,Zosia Miedzybrodzka
Neurologyno. 10 (2017): 1035-1042
引用0浏览0引用
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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
Jeremy F McRae,Stephen Clayton,Tomas W Fitzgerald,Joanna Kaplanis,Elena Prigmore,Diana Rajan,AlejandroW Sifrim,Stuart Aitken,Nadia Akawi,Mohsan Alvi,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,Philip Jones,Wendy D Jones,Daniel King,Netravathi Krishnappa,Laura E Mason,Tarjinder Singh,Adrian R Tivey,Munaza Ahmed, Uruj Anjum,Hayley Archer,Ruth Armstrong,Jana Awada,Meena Balasubramanian,Siddharth Banka,Diana Baralle,Angela Barnicoat, Paul Batstone,David Baty,Chris Bennett,Jonathan Berg,Birgitta Bernhard,A Paul Bevan,Maria Bitner-Glindzicz,Edward Blair,Moira Blyth,David Bohanna, Louise Bourdon,David Bourn,Lisa Bradley,Angela Brady,Simon Brent,Carole Brewer, Kate Brunstrom,David J Bunyan,John Burn,Natalie Canham,Bruce Castle,Kate Chandler,Elena Chatzimichali,Deirdre Cilliers,Angus Clarke, Susan Clasper,Jill Clayton-Smith,Virginia Clowes,Andrea Coates,Trevor Cole,Irina Colgiu,Amanda Collins,Morag N Collinson,Fiona Connell,Nicola Cooper,Helen Cox,Lara Cresswell, Gareth Cross,Yanick Crow,Mariella D'Alessandro,Tabib Dabir,Rosemarie Davidson,Sally Davies,Dylan de Vries,John Dean,Charu Deshpande,Gemma Devlin,Abhijit Dixit,Angus Dobbie,Alan Donaldson,Dian Donnai,Deirdre Donnelly, Carina Donnelly,Angela 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,AndrewW Fry,Alan Fryer,Carol Gardiner,Lorraine Gaunt,Neeti Ghali,Richard Gibbons,Harinder Gill,Judith Goodship,David Goudie,Emma Gray,Andrew Green,Philip Greene,Lynn Greenhalgh,Susan Gribble,Lucy Harrison,Victoria Harrison,Rose Hawkins,Liu He,Stephen Hellens,Alex Henderson,Sarah Hewitt,Lucy Hildyard,Emma Hobson,Simon Holden,Muriel Holder,Susan Holder,Georgina Hollingsworth,Tessa Homfray,Mervyn Humphreys,Jane Hurst,Ben Hutton,Stuart Ingram,Melita Irving,Lily Islam,Andrew Jackson,Joanna Jarvis,Lucy Jenkins,Diana Johnson,Elizabeth 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 A 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 McNerlan,Catherine McWilliam,Sarju 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 Nemeth,Louise Nevitt,Ruth Newbury-Ecob,Andrew Norman,Rosie O'Shea,Caroline Ogilvie,Kai-Ren Ong,Soo-Mi Park,Michael J Parker,Chirag Patel,Joan Paterson,Stewart Payne,Daniel Perrett,Julie Phipps,Daniela T Pilz,Martin Pollard, Caroline Pottinger,Joanna Poulton,Norman Pratt,Katrina Prescott,Sue Price, Abigail Pridham,Annie Procter, Hellen Purnell,Oliver Quarrell,Nicola 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 Sampson,Richard Sandford,Ajoy Sarkar,Susann Schweiger,Richard 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 Smithson,Linda Sneddon,Miranda Splitt,Miranda Squires,Fiona Stewart,Helen Stewart,Volker Straub,Mohnish Suri,Vivienne Sutton,Ganesh Jawahar Swaminathan,Elizabeth Sweeney,Kate Tatton-Brown, Cat Taylor,Rohan Taylor,Mark Tein,I Karen Temple,Jenny Thomson,Marc Tischkowitz,Susan Tomkins, Audrey Torokwa,Becky Treacy,Claire Turner,Peter Turnpenny,Carolyn Tysoe,Anthony Vandersteen,Vinod Varghese,Pradeep 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 Wilson,Geoff Woods,Christopher Wragg,Michael Wright,Laura Yates,Michael Yau, Chris Nellaker,Michael J Parker,Helen V Firth,Caroline F Wright,David R FitzPatrick,Jeffrey C Barrett,Matthew E Hurles
bioRxiv（2016）
引用10浏览0引用
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作者统计

#Papers: 6

#Citation: 147

H-Index: 4

G-Index: 4

Sociability: 6

Diversity: 1

Activity: 0

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