CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

BibTeX

@article{allodium:10.1038/s41467-018-06014-6,
  title = {CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language},
  author = {Lot Snijders Blok and Justine Rousseau and Joanna Twist and Sophie Ehresmann and Motoki Takaku and Hanka Venselaar and Lance H. Rodan and Catherine B. Nowak and Jessica Douglas and Kathryn J. Swoboda and Marcie A. Steeves and Inderneel Sahai and Connie T. R. M. Stumpel and Alexander P. A. Stegmann and Patricia Wheeler and Marcia Willing and Elise Fiala and Aaina Kochhar and William T. Gibson and Ana S. A. Cohen and Ruky Agbahovbe and A. Micheil Innes and P. Y. Billie Au and Julia Rankin and Ilse J. Anderson and Steven A. Skinner and Raymond J. Louie and Hannah E. Warren and Alexandra Afenjar and Boris Keren and Caroline Nava and Julien Buratti and Arnaud Isapof and Diana Rodriguez and Raymond Lewandowski and Jennifer Propst and Ton van Essen and Murim Choi and Sangmoon Lee and Jong H. Chae and Susan Price and Rhonda E. Schnur and Ganka Douglas and Ingrid M. Wentzensen and Christiane Zweier and André Reis and Martin G. Bialer and Christine Moore and Marije Koopmans and Eva H. Brilstra and Glen R. Monroe and Koen L. I. van Gassen and Ellen van Binsbergen and Ruth Newbury-Ecob and Lucy Bownass and Ingrid Bader and Johannes A. Mayr and Saskia B. Wortmann and Kathy J. Jakielski and Edythe A. Strand and Katja Kloth and Tatjana Bierhals and Unknown and Jeremy F. McRae and Stephen Clayton and Tomas W. Fitzgerald and Joanna Kaplanis and Elena Prigmore and Diana Rajan and Alejandro Sifrim and Stuart Aitken and Nadia Akawi and Mohsan Alvi and Kirsty Ambridge and Daniel M. Barrett and Tanya Bayzetinova and Philip Jones and Wendy D. Jones and Daniel King and Netravathi Krishnappa and Laura E. Mason and Tarjinder Singh and Adrian R. Tivey and Munaza Ahmed and Uruj Anjum and Hayley Archer and Ruth Armstrong and Jana Awada and Meena Balasubramanian and Siddharth Banka and Diana Baralle and Angela Barnicoat and Paul Batstone and David Baty and Chris Bennett and Jonathan Berg and Birgitta Bernhard and A. Paul Bevan and Maria Bitner-Glindzicz and Edward Blair and Moira Blyth and David Bohanna and Louise Bourdon and David Bourn and Lisa Bradley and Angela Brady and Simon Brent and Carole Brewer and Kate Brunstrom and David J. Bunyan and John Burn and Natalie Canham and Bruce Castle and Kate Chandler and Elena Chatzimichali and Deirdre Cilliers and Angus Clarke and Susan Clasper and Jill Clayton-Smith and Virginia Clowes and Andrea Coates and Trevor Cole and Irina Colgiu and Amanda Collins and Morag N. Collinson and Fiona Connell and Nicola Cooper and Helen Cox and Lara Cresswell and Gareth Cross and Yanick Crow and Mariella D’Alessandro and Tabib Dabir and Rosemarie Davidson and Sally Davies and Dylan de Vries and John Dean and Charu Deshpande and Gemma Devlin and Abhijit Dixit and Angus Dobbie and Alan Donaldson and Dian Donnai and Deirdre Donnelly and Carina Donnelly and Angela Douglas and Sofia Douzgou and Alexis Duncan and Jacqueline Eason and Sian Ellard and Ian Ellis and Frances Elmslie and Karenza Evans and Sarah Everest and Tina Fendick and Richard Fisher and Frances Flinter and Nicola Foulds and Andrew Fry and Alan Fryer and Carol Gardiner and Lorraine Gaunt and Neeti Ghali and Richard Gibbons and Harinder Gill and Judith Goodship and David Goudie and Emma Gray and Andrew Green and Philip Greene and Lynn Greenhalgh and Susan Gribble and Rachel Harrison and Lucy Harrison and Victoria Harrison and Rose Hawkins and Liu He and Stephen Hellens and Alex Henderson and Sarah Hewitt and Lucy Hildyard and Emma Hobson and Simon Holden and Muriel Holder and Susan Holder and Georgina Hollingsworth and Tessa Homfray and Mervyn Humphreys and Jane Hurst and Ben Hutton and Stuart Ingram and Melita Irving and Lily Islam and Andrew Jackson and Joanna Jarvis and Lucy Jenkins and Diana Johnson and Elizabeth Jones and Dragana Josifova and Shelagh Joss and Beckie Kaemba and Sandra Kazembe and Rosemary Kelsell and Bronwyn Kerr and Helen Kingston and Usha Kini and Esther Kinning and Gail Kirby and Claire Kirk and Emma Kivuva and Alison Kraus and Dhavendra Kumar and V. K. Ajith Kumar and Katherine Lachlan and Wayne Lam and Anne Lampe and Caroline Langman and Melissa Lees and Derek Lim and Cheryl Longman and Gordon Lowther and Sally A. Lynch and Alex Magee and Eddy Maher and Alison Male and Sahar Mansour and Karen Marks and Katherine Martin and Una Maye and Emma McCann and Vivienne McConnell and Meriel McEntagart and Ruth McGowan and Kirsten McKay and Shane McKee and Dominic J. McMullan and Susan McNerlan and Catherine McWilliam and Sarju Mehta and Kay Metcalfe and Anna Middleton and Zosia Miedzybrodzka and Emma Miles and Shehla Mohammed and Tara Montgomery and David Moore and Sian Morgan and Jenny Morton and Hood Mugalaasi and Victoria Murday and Helen Murphy and Swati Naik and Andrea Nemeth and Louise Nevitt and Andrew Norman and Rosie O’Shea and Caroline Ogilvie and Kai-Ren Ong and Soo-Mi Park and Michael J. Parker and Chirag Patel and Joan Paterson and Stewart Payne and Daniel Perrett and Julie Phipps and Daniela T. Pilz and Martin Pollard and Caroline Pottinger and Joanna Poulton and Norman Pratt and Katrina Prescott and Abigail Pridham and Annie Procter and Hellen Purnell and Oliver Quarrell and Nicola Ragge and Raheleh Rahbari and Josh Randall and Lucy Raymond and Debbie Rice and Leema Robert and Eileen Roberts and Jonathan Roberts and Paul Roberts and Gillian Roberts and Alison Ross and Elisabeth Rosser and Anand Saggar and Shalaka Samant and Julian Sampson and Richard Sandford and Ajoy Sarkar and Susann Schweiger and Richard Scott and Ingrid Scurr and Ann Selby and Anneke Seller and Cheryl Sequeira and Nora Shannon and Saba Sharif and Charles Shaw-Smith and Emma Shearing and Debbie Shears and Eamonn Sheridan and Ingrid Simonic and Roldan Singzon and Zara Skitt and Audrey Smith and Kath Smith and Sarah Smithson and Linda Sneddon and Miranda Splitt and Miranda Squires and Fiona Stewart and Helen Stewart and Volker Straub and Mohnish Suri and Vivienne Sutton and Ganesh Jawahar Swaminathan and Elizabeth Sweeney and Kate Tatton-Brown and Cat Taylor and Rohan Taylor and Mark Tein and I. Karen Temple and Jenny Thomson and Marc Tischkowitz and Susan Tomkins and Audrey Torokwa and Becky Treacy and Claire Turner and Peter Turnpenny and Carolyn Tysoe and Anthony Vandersteen and Vinod Varghese and Pradeep Vasudevan and Parthiban Vijayarangakannan and Julie Vogt and Emma Wakeling and Sarah Wallwark and Jonathon Waters and Astrid Weber and Diana Wellesley and Margo Whiteford and Sara Widaa and Sarah Wilcox and Emily Wilkinson and Denise Williams and Nicola Williams and Louise Wilson and Geoff Woods and Christopher Wragg and Michael Wright and Laura Yates and Michael Yau and Chris Nellåker and Michael Parker and Helen V. Firth and Caroline F. Wright and David R. FitzPatrick and Jeffrey C. Barrett and Matthew E. Hurles and John D. Roberts and Robert M. Petrovich and Shinichi Machida and Hitoshi Kurumizaka and Stefan Lelieveld and Rolph Pfundt and Sandra Jansen and Pelagia Deriziotis and Laurence Faivre and Julien Thevenon and Mirna Assoum and Lawrence Shriberg and Tjitske Kleefstra and Han G. Brunner and Paul A. Wade and Simon E. Fisher and Philippe M. Campeau},
  year = {2018},
  journal = {Nature Communications},
  doi = {10.1038/s41467-018-06014-6},
  url = {https://doi.org/10.1038/s41467-018-06014-6}
}

RIS

TY  - JOUR
TI  - CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
AU  - Lot Snijders Blok
AU  - Justine Rousseau
AU  - Joanna Twist
AU  - Sophie Ehresmann
AU  - Motoki Takaku
AU  - Hanka Venselaar
AU  - Lance H. Rodan
AU  - Catherine B. Nowak
AU  - Jessica Douglas
AU  - Kathryn J. Swoboda
AU  - Marcie A. Steeves
AU  - Inderneel Sahai
AU  - Connie T. R. M. Stumpel
AU  - Alexander P. A. Stegmann
AU  - Patricia Wheeler
AU  - Marcia Willing
AU  - Elise Fiala
AU  - Aaina Kochhar
AU  - William T. Gibson
AU  - Ana S. A. Cohen
AU  - Ruky Agbahovbe
AU  - A. Micheil Innes
AU  - P. Y. Billie Au
AU  - Julia Rankin
AU  - Ilse J. Anderson
AU  - Steven A. Skinner
AU  - Raymond J. Louie
AU  - Hannah E. Warren
AU  - Alexandra Afenjar
AU  - Boris Keren
AU  - Caroline Nava
AU  - Julien Buratti
AU  - Arnaud Isapof
AU  - Diana Rodriguez
AU  - Raymond Lewandowski
AU  - Jennifer Propst
AU  - Ton van Essen
AU  - Murim Choi
AU  - Sangmoon Lee
AU  - Jong H. Chae
AU  - Susan Price
AU  - Rhonda E. Schnur
AU  - Ganka Douglas
AU  - Ingrid M. Wentzensen
AU  - Christiane Zweier
AU  - André Reis
AU  - Martin G. Bialer
AU  - Christine Moore
AU  - Marije Koopmans
AU  - Eva H. Brilstra
AU  - Glen R. Monroe
AU  - Koen L. I. van Gassen
AU  - Ellen van Binsbergen
AU  - Ruth Newbury-Ecob
AU  - Lucy Bownass
AU  - Ingrid Bader
AU  - Johannes A. Mayr
AU  - Saskia B. Wortmann
AU  - Kathy J. Jakielski
AU  - Edythe A. Strand
AU  - Katja Kloth
AU  - Tatjana Bierhals
AU  - Unknown
AU  - Jeremy F. McRae
AU  - Stephen Clayton
AU  - Tomas W. Fitzgerald
AU  - Joanna Kaplanis
AU  - Elena Prigmore
AU  - Diana Rajan
AU  - Alejandro Sifrim
AU  - Stuart Aitken
AU  - Nadia Akawi
AU  - Mohsan Alvi
AU  - Kirsty Ambridge
AU  - Daniel M. Barrett
AU  - Tanya Bayzetinova
AU  - Philip Jones
AU  - Wendy D. Jones
AU  - Daniel King
AU  - Netravathi Krishnappa
AU  - Laura E. Mason
AU  - Tarjinder Singh
AU  - Adrian R. Tivey
AU  - Munaza Ahmed
AU  - Uruj Anjum
AU  - Hayley Archer
AU  - Ruth Armstrong
AU  - Jana Awada
AU  - Meena Balasubramanian
AU  - Siddharth Banka
AU  - Diana Baralle
AU  - Angela Barnicoat
AU  - Paul Batstone
AU  - David Baty
AU  - Chris Bennett
AU  - Jonathan Berg
AU  - Birgitta Bernhard
AU  - A. Paul Bevan
AU  - Maria Bitner-Glindzicz
AU  - Edward Blair
AU  - Moira Blyth
AU  - David Bohanna
AU  - Louise Bourdon
AU  - David Bourn
AU  - Lisa Bradley
AU  - Angela Brady
AU  - Simon Brent
AU  - Carole Brewer
AU  - Kate Brunstrom
AU  - David J. Bunyan
AU  - John Burn
AU  - Natalie Canham
AU  - Bruce Castle
AU  - Kate Chandler
AU  - Elena Chatzimichali
AU  - Deirdre Cilliers
AU  - Angus Clarke
AU  - Susan Clasper
AU  - Jill Clayton-Smith
AU  - Virginia Clowes
AU  - Andrea Coates
AU  - Trevor Cole
AU  - Irina Colgiu
AU  - Amanda Collins
AU  - Morag N. Collinson
AU  - Fiona Connell
AU  - Nicola Cooper
AU  - Helen Cox
AU  - Lara Cresswell
AU  - Gareth Cross
AU  - Yanick Crow
AU  - Mariella D’Alessandro
AU  - Tabib Dabir
AU  - Rosemarie Davidson
AU  - Sally Davies
AU  - Dylan de Vries
AU  - John Dean
AU  - Charu Deshpande
AU  - Gemma Devlin
AU  - Abhijit Dixit
AU  - Angus Dobbie
AU  - Alan Donaldson
AU  - Dian Donnai
AU  - Deirdre Donnelly
AU  - Carina Donnelly
AU  - Angela Douglas
AU  - Sofia Douzgou
AU  - Alexis Duncan
AU  - Jacqueline Eason
AU  - Sian Ellard
AU  - Ian Ellis
AU  - Frances Elmslie
AU  - Karenza Evans
AU  - Sarah Everest
AU  - Tina Fendick
AU  - Richard Fisher
AU  - Frances Flinter
AU  - Nicola Foulds
AU  - Andrew Fry
AU  - Alan Fryer
AU  - Carol Gardiner
AU  - Lorraine Gaunt
AU  - Neeti Ghali
AU  - Richard Gibbons
AU  - Harinder Gill
AU  - Judith Goodship
AU  - David Goudie
AU  - Emma Gray
AU  - Andrew Green
AU  - Philip Greene
AU  - Lynn Greenhalgh
AU  - Susan Gribble
AU  - Rachel Harrison
AU  - Lucy Harrison
AU  - Victoria Harrison
AU  - Rose Hawkins
AU  - Liu He
AU  - Stephen Hellens
AU  - Alex Henderson
AU  - Sarah Hewitt
AU  - Lucy Hildyard
AU  - Emma Hobson
AU  - Simon Holden
AU  - Muriel Holder
AU  - Susan Holder
AU  - Georgina Hollingsworth
AU  - Tessa Homfray
AU  - Mervyn Humphreys
AU  - Jane Hurst
AU  - Ben Hutton
AU  - Stuart Ingram
AU  - Melita Irving
AU  - Lily Islam
AU  - Andrew Jackson
AU  - Joanna Jarvis
AU  - Lucy Jenkins
AU  - Diana Johnson
AU  - Elizabeth Jones
AU  - Dragana Josifova
AU  - Shelagh Joss
AU  - Beckie Kaemba
AU  - Sandra Kazembe
AU  - Rosemary Kelsell
AU  - Bronwyn Kerr
AU  - Helen Kingston
AU  - Usha Kini
AU  - Esther Kinning
AU  - Gail Kirby
AU  - Claire Kirk
AU  - Emma Kivuva
AU  - Alison Kraus
AU  - Dhavendra Kumar
AU  - V. K. Ajith Kumar
AU  - Katherine Lachlan
AU  - Wayne Lam
AU  - Anne Lampe
AU  - Caroline Langman
AU  - Melissa Lees
AU  - Derek Lim
AU  - Cheryl Longman
AU  - Gordon Lowther
AU  - Sally A. Lynch
AU  - Alex Magee
AU  - Eddy Maher
AU  - Alison Male
AU  - Sahar Mansour
AU  - Karen Marks
AU  - Katherine Martin
AU  - Una Maye
AU  - Emma McCann
AU  - Vivienne McConnell
AU  - Meriel McEntagart
AU  - Ruth McGowan
AU  - Kirsten McKay
AU  - Shane McKee
AU  - Dominic J. McMullan
AU  - Susan McNerlan
AU  - Catherine McWilliam
AU  - Sarju Mehta
AU  - Kay Metcalfe
AU  - Anna Middleton
AU  - Zosia Miedzybrodzka
AU  - Emma Miles
AU  - Shehla Mohammed
AU  - Tara Montgomery
AU  - David Moore
AU  - Sian Morgan
AU  - Jenny Morton
AU  - Hood Mugalaasi
AU  - Victoria Murday
AU  - Helen Murphy
AU  - Swati Naik
AU  - Andrea Nemeth
AU  - Louise Nevitt
AU  - Andrew Norman
AU  - Rosie O’Shea
AU  - Caroline Ogilvie
AU  - Kai-Ren Ong
AU  - Soo-Mi Park
AU  - Michael J. Parker
AU  - Chirag Patel
AU  - Joan Paterson
AU  - Stewart Payne
AU  - Daniel Perrett
AU  - Julie Phipps
AU  - Daniela T. Pilz
AU  - Martin Pollard
AU  - Caroline Pottinger
AU  - Joanna Poulton
AU  - Norman Pratt
AU  - Katrina Prescott
AU  - Abigail Pridham
AU  - Annie Procter
AU  - Hellen Purnell
AU  - Oliver Quarrell
AU  - Nicola Ragge
AU  - Raheleh Rahbari
AU  - Josh Randall
AU  - Lucy Raymond
AU  - Debbie Rice
AU  - Leema Robert
AU  - Eileen Roberts
AU  - Jonathan Roberts
AU  - Paul Roberts
AU  - Gillian Roberts
AU  - Alison Ross
AU  - Elisabeth Rosser
AU  - Anand Saggar
AU  - Shalaka Samant
AU  - Julian Sampson
AU  - Richard Sandford
AU  - Ajoy Sarkar
AU  - Susann Schweiger
AU  - Richard Scott
AU  - Ingrid Scurr
AU  - Ann Selby
AU  - Anneke Seller
AU  - Cheryl Sequeira
AU  - Nora Shannon
AU  - Saba Sharif
AU  - Charles Shaw-Smith
AU  - Emma Shearing
AU  - Debbie Shears
AU  - Eamonn Sheridan
AU  - Ingrid Simonic
AU  - Roldan Singzon
AU  - Zara Skitt
AU  - Audrey Smith
AU  - Kath Smith
AU  - Sarah Smithson
AU  - Linda Sneddon
AU  - Miranda Splitt
AU  - Miranda Squires
AU  - Fiona Stewart
AU  - Helen Stewart
AU  - Volker Straub
AU  - Mohnish Suri
AU  - Vivienne Sutton
AU  - Ganesh Jawahar Swaminathan
AU  - Elizabeth Sweeney
AU  - Kate Tatton-Brown
AU  - Cat Taylor
AU  - Rohan Taylor
AU  - Mark Tein
AU  - I. Karen Temple
AU  - Jenny Thomson
AU  - Marc Tischkowitz
AU  - Susan Tomkins
AU  - Audrey Torokwa
AU  - Becky Treacy
AU  - Claire Turner
AU  - Peter Turnpenny
AU  - Carolyn Tysoe
AU  - Anthony Vandersteen
AU  - Vinod Varghese
AU  - Pradeep Vasudevan
AU  - Parthiban Vijayarangakannan
AU  - Julie Vogt
AU  - Emma Wakeling
AU  - Sarah Wallwark
AU  - Jonathon Waters
AU  - Astrid Weber
AU  - Diana Wellesley
AU  - Margo Whiteford
AU  - Sara Widaa
AU  - Sarah Wilcox
AU  - Emily Wilkinson
AU  - Denise Williams
AU  - Nicola Williams
AU  - Louise Wilson
AU  - Geoff Woods
AU  - Christopher Wragg
AU  - Michael Wright
AU  - Laura Yates
AU  - Michael Yau
AU  - Chris Nellåker
AU  - Michael Parker
AU  - Helen V. Firth
AU  - Caroline F. Wright
AU  - David R. FitzPatrick
AU  - Jeffrey C. Barrett
AU  - Matthew E. Hurles
AU  - John D. Roberts
AU  - Robert M. Petrovich
AU  - Shinichi Machida
AU  - Hitoshi Kurumizaka
AU  - Stefan Lelieveld
AU  - Rolph Pfundt
AU  - Sandra Jansen
AU  - Pelagia Deriziotis
AU  - Laurence Faivre
AU  - Julien Thevenon
AU  - Mirna Assoum
AU  - Lawrence Shriberg
AU  - Tjitske Kleefstra
AU  - Han G. Brunner
AU  - Paul A. Wade
AU  - Simon E. Fisher
AU  - Philippe M. Campeau
PY  - 2018
JO  - Nature Communications
DO  - 10.1038/s41467-018-06014-6
UR  - https://doi.org/10.1038/s41467-018-06014-6
ER  - 

APA

Blok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A., Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., Essen, T. V., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Koopmans, M., Brilstra, E. H., Monroe, G. R., Gassen, K. L. I. V., Binsbergen, E. V., Newbury-Ecob, R., Bownass, L., Bader, I., Mayr, J. A., Wortmann, S. B., Jakielski, K. J., Strand, E. A., Kloth, K., Bierhals, T., Unknown, McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., Ambridge, K., Barrett, D. M., Bayzetinova, T., Jones, P., Jones, W. D., King, D., Krishnappa, N., Mason, L. E., Singh, T., Tivey, A. R., Ahmed, M., Anjum, U., Archer, H., Armstrong, R., Awada, J., Balasubramanian, M., Banka, S., Baralle, D., Barnicoat, A., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A. P., Bitner-Glindzicz, M., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Bradley, L., Brady, A., Brent, S., Brewer, C., Brunstrom, K., Bunyan, D. J., Burn, J., Canham, N., Castle, B., Chandler, K., Chatzimichali, E., Cilliers, D., Clarke, A., Clasper, S., Clayton-Smith, J., Clowes, V., Coates, A., Cole, T., Colgiu, I., Collins, A., Collinson, M. N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D’Alessandro, M., Dabir, T., Davidson, R., Davies, S., Vries, D. D., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dobbie, A., Donaldson, A., Donnai, D., Donnelly, D., Donnelly, C., Douglas, A., Douzgou, S., Duncan, A., Eason, J., Ellard, S., Ellis, I., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fry, A., Fryer, A., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Gill, H., Goodship, J., Goudie, D., Gray, E., Green, A., Greene, P., Greenhalgh, L., Gribble, S., Harrison, R., Harrison, L., Harrison, V., Hawkins, R., He, L., Hellens, S., Henderson, A., Hewitt, S., Hildyard, L., Hobson, E., Holden, S., Holder, M., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Hutton, B., Ingram, S., Irving, M., Islam, L., Jackson, A., Jarvis, J., Jenkins, L., Johnson, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kelsell, R., Kerr, B., Kingston, H., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Kumar, V. K. A., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Longman, C., Lowther, G., Lynch, S. A., Magee, A., Maher, E., Male, A., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D. J., McNerlan, S., McWilliam, C., Mehta, S., Metcalfe, K., Middleton, A., Miedzybrodzka, Z., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morton, J., Mugalaasi, H., Murday, V., Murphy, H., Naik, S., Nemeth, A., Nevitt, L., Norman, A., O’Shea, R., Ogilvie, C., Ong, K., Park, S., Parker, M. J., Patel, C., Paterson, J., Payne, S., Perrett, D., Phipps, J., Pilz, D. T., Pollard, M., Pottinger, C., Poulton, J., Pratt, N., Prescott, K., Pridham, A., Procter, A., Purnell, H., Quarrell, O., Ragge, N., Rahbari, R., Randall, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, J., Roberts, P., Roberts, G., Ross, A., Rosser, E., Saggar, A., Samant, S., Sampson, J., Sandford, R., Sarkar, A., Schweiger, S., Scott, R., Scurr, I., Selby, A., Seller, A., Sequeira, C., Shannon, N., Sharif, S., Shaw-Smith, C., Shearing, E., Shears, D., Sheridan, E., Simonic, I., Singzon, R., Skitt, Z., Smith, A., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Straub, V., Suri, M., Sutton, V., Swaminathan, G. J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I. K., Thomson, J., Tischkowitz, M., Tomkins, S., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Varghese, V., Vasudevan, P., Vijayarangakannan, P., Vogt, J., Wakeling, E., Wallwark, S., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Wilkinson, E., Williams, D., Williams, N., Wilson, L., Woods, G., Wragg, C., Wright, M., Yates, L., Yau, M., Nellåker, C., Parker, M., Firth, H. V., Wright, C. F., FitzPatrick, D. R., Barrett, J. C., Hurles, M. E., Roberts, J. D., Petrovich, R. M., Machida, S., Kurumizaka, H., Lelieveld, S., Pfundt, R., Jansen, S., Deriziotis, P., Faivre, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E., & Campeau, P. M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. https://doi.org/10.1038/s41467-018-06014-6