Published Erratum
doi: 10.1038/s41467-019-10161-9.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok
1
2
3
, Justine Rousseau
4
, Joanna Twist
5
, Sophie Ehresmann
4
, Motoki Takaku
5
, Hanka Venselaar
6
, Lance H Rodan
7
, Catherine B Nowak
7
, Jessica Douglas
7
, Kathryn J Swoboda
8
, Marcie A Steeves
9
, Inderneel Sahai
9
, Connie T R M Stumpel
10
, Alexander P A Stegmann
10
, Patricia Wheeler
11
, Marcia Willing
12
, Elise Fiala
12
, Aaina Kochhar
13
, William T Gibson
14
15
, Ana S A Cohen
14
15
, Ruky Agbahovbe
14
15
, A Micheil Innes
16
, P Y Billie Au
16
, Julia Rankin
17
, Ilse J Anderson
18
, Steven A Skinner
19
, Raymond J Louie
19
, Hannah E Warren
19
, Alexandra Afenjar
20
, Boris Keren
21
22
, Caroline Nava
21
22
23
, Julien Buratti
21
, Arnaud Isapof
24
, Diana Rodriguez
25
, Raymond Lewandowski
26
, Jennifer Propst
26
, Ton van Essen
27
, Murim Choi
28
, Sangmoon Lee
28
, Jong H Chae
29
, Susan Price
30
, Rhonda E Schnur
31
, Ganka Douglas
31
, Ingrid M Wentzensen
31
, Christiane Zweier
32
, André Reis
32
, Martin G Bialer
33
, Christine Moore
33
, Marije Koopmans
34
, Eva H Brilstra
34
, Glen R Monroe
34
, Koen L I van Gassen
34
, Ellen van Binsbergen
34
, Ruth Newbury-Ecob
35
, Lucy Bownass
35
, Ingrid Bader
36
, Johannes A Mayr
37
, Saskia B Wortmann
37
38
39
, Kathy J Jakielski
40
, Edythe A Strand
41
, Katja Kloth
42
, Tatjana Bierhals
42
; DDD study; John D Roberts
5
, Robert M Petrovich
5
, Shinichi Machida
43
, Hitoshi Kurumizaka
43
, Stefan Lelieveld
1
, Rolph Pfundt
1
, Sandra Jansen
1
3
, Pelagia Deriziotis
2
, Laurence Faivre
44
45
, Julien Thevenon
44
45
, Mirna Assoum
44
45
, Lawrence Shriberg
46
, Tjitske Kleefstra
1
3
, Han G Brunner
1
3
10
, Paul A Wade
5
, Simon E Fisher
47
48
, Philippe M Campeau
49
50
Collaborators,
Affiliations
Collaborators
-
DDD study:
Jeremy F McRae, Stephen Clayton, Tomas W Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro 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, 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, 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, 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, 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 Nellåker, Michael Parker, Helen V Firth, Caroline F Wright, David R FitzPatrick, Jeffrey C Barrett, Matthew E Hurles
Affiliations
- 1 Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
- 2 Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.
- 3 Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.
- 4 CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
- 5 National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
- 6 Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
- 7 Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
- 8 Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
- 9 Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.
- 10 Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.
- 11 Nemours Childrens Clinic, Orlando, FL 32827, USA.
- 12 Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
- 13 Valley Children's Hospital, Madera, CA 93636, USA.
- 14 British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.
- 15 Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
- 16 Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
- 17 Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.
- 18 Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN 37920, USA.
- 19 Greenwood Genetic Center, Greenwood, SC 29646, USA.
- 20 GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.
- 21 AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.
- 22 Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.
- 23 INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.
- 24 GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases "Nord/Est/Ile-de-France", FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.
- 25 GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.
- 26 Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.
- 27 Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.
- 28 Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.
- 29 Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.
- 30 Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.
- 31 GeneDx, Gaithersburg, MD 20877, USA.
- 32 Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.
- 33 Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.
- 34 Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
- 35 University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.
- 36 Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.
- 37 Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.
- 38 Institute of Human Genetics, Technische Universität München, Munich, 81675, Germany.
- 39 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.
- 40 Communication Sciences and Disorders, Augustana College, Rock Island, IL 61201, USA.
- 41 Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
- 42 Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.
- 43 Waseda University, Tokyo, 169-8050, Japan.
- 44 Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.
- 45 Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.
- 46 Waisman Center, Phonology Project, Madison, WI 53705-2280, USA.
- 47 Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.
- 48 Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands. simon.fisher@mpi.nl.
- 49 CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.
- 50 Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.
- PMID: 31048695
- PMCID: PMC6497626
- DOI: 10.1038/s41467-019-10161-9
Item in Clipboard
Published Erratum
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok et al.
Nat Commun.
.
Display options
Format
doi: 10.1038/s41467-019-10161-9.
Authors
Lot Snijders Blok
1
2
3
, Justine Rousseau
4
, Joanna Twist
5
, Sophie Ehresmann
4
, Motoki Takaku
5
, Hanka Venselaar
6
, Lance H Rodan
7
, Catherine B Nowak
7
, Jessica Douglas
7
, Kathryn J Swoboda
8
, Marcie A Steeves
9
, Inderneel Sahai
9
, Connie T R M Stumpel
10
, Alexander P A Stegmann
10
, Patricia Wheeler
11
, Marcia Willing
12
, Elise Fiala
12
, Aaina Kochhar
13
, William T Gibson
14
15
, Ana S A Cohen
14
15
, Ruky Agbahovbe
14
15
, A Micheil Innes
16
, P Y Billie Au
16
, Julia Rankin
17
, Ilse J Anderson
18
, Steven A Skinner
19
, Raymond J Louie
19
, Hannah E Warren
19
, Alexandra Afenjar
20
, Boris Keren
21
22
, Caroline Nava
21
22
23
, Julien Buratti
21
, Arnaud Isapof
24
, Diana Rodriguez
25
, Raymond Lewandowski
26
, Jennifer Propst
26
, Ton van Essen
27
, Murim Choi
28
, Sangmoon Lee
28
, Jong H Chae
29
, Susan Price
30
, Rhonda E Schnur
31
, Ganka Douglas
31
, Ingrid M Wentzensen
31
, Christiane Zweier
32
, André Reis
32
, Martin G Bialer
33
, Christine Moore
33
, Marije Koopmans
34
, Eva H Brilstra
34
, Glen R Monroe
34
, Koen L I van Gassen
34
, Ellen van Binsbergen
34
, Ruth Newbury-Ecob
35
, Lucy Bownass
35
, Ingrid Bader
36
, Johannes A Mayr
37
, Saskia B Wortmann
37
38
39
, Kathy J Jakielski
40
, Edythe A Strand
41
, Katja Kloth
42
, Tatjana Bierhals
42
; DDD study; John D Roberts
5
, Robert M Petrovich
5
, Shinichi Machida
43
, Hitoshi Kurumizaka
43
, Stefan Lelieveld
1
, Rolph Pfundt
1
, Sandra Jansen
1
3
, Pelagia Deriziotis
2
, Laurence Faivre
44
45
, Julien Thevenon
44
45
, Mirna Assoum
44
45
, Lawrence Shriberg
46
, Tjitske Kleefstra
1
3
, Han G Brunner
1
3
10
, Paul A Wade
5
, Simon E Fisher
47
48
, Philippe M Campeau
49
50
Collaborators
-
DDD study:
Jeremy F McRae, Stephen Clayton, Tomas W Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro 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, 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, 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, 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, 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 Nellåker, Michael Parker, Helen V Firth, Caroline F Wright, David R FitzPatrick, Jeffrey C Barrett, Matthew E Hurles
Affiliations
- 1 Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
- 2 Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.
- 3 Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.
- 4 CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
- 5 National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
- 6 Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
- 7 Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
- 8 Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
- 9 Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.
- 10 Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.
- 11 Nemours Childrens Clinic, Orlando, FL 32827, USA.
- 12 Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
- 13 Valley Children's Hospital, Madera, CA 93636, USA.
- 14 British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.
- 15 Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
- 16 Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
- 17 Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.
- 18 Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN 37920, USA.
- 19 Greenwood Genetic Center, Greenwood, SC 29646, USA.
- 20 GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.
- 21 AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.
- 22 Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.
- 23 INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.
- 24 GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases "Nord/Est/Ile-de-France", FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.
- 25 GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.
- 26 Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.
- 27 Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.
- 28 Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.
- 29 Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.
- 30 Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.
- 31 GeneDx, Gaithersburg, MD 20877, USA.
- 32 Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.
- 33 Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.
- 34 Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
- 35 University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.
- 36 Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.
- 37 Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.
- 38 Institute of Human Genetics, Technische Universität München, Munich, 81675, Germany.
- 39 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.
- 40 Communication Sciences and Disorders, Augustana College, Rock Island, IL 61201, USA.
- 41 Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
- 42 Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.
- 43 Waseda University, Tokyo, 169-8050, Japan.
- 44 Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.
- 45 Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.
- 46 Waisman Center, Phonology Project, Madison, WI 53705-2280, USA.
- 47 Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.
- 48 Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands. simon.fisher@mpi.nl.
- 49 CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.
- 50 Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.
- PMID: 31048695
- PMCID: PMC6497626
- DOI: 10.1038/s41467-019-10161-9
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The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
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