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

Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H Rodan; Catherine B Nowak; Jessica Douglas; Kathryn J Swoboda; Marcie A Steeves; Inderneel Sahai; Connie T R M Stumpel; Alexander P A Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T Gibson; Ana S A Cohen; Ruky Agbahovbe; A Micheil Innes; P Y Billie Au; Julia Rankin; Ilse J Anderson; Steven A Skinner; Raymond J Louie; Hannah E Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H Chae; Susan Price; Rhonda E Schnur; Ganka Douglas; Ingrid M Wentzensen; Christiane Zweier; André Reis; Martin G Bialer; Christine Moore; Marije Koopmans; Eva H Brilstra; Glen R Monroe; Koen L I van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia Wortmann; Kathy J Jakielski; Edythe A Strand; Katja Kloth; Tatjana Bierhals; John D Roberts; Robert M Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G Brunner; Paul A Wade; Simon E Fisher; Philippe M Campeau

doi:10.1038/s41467-018-06014-6

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

Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swoboda, Marcie A Steeves, Inderneel Sahai, Connie T R M Stumpel, Alexander P A Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T Gibson, Ana S A CohenRuky Agbahovbe, A Micheil Innes, P Y Billie Au, Julia Rankin, Ilse J Anderson, Steven A Skinner, Raymond J Louie, Hannah E Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H Chae, Susan Price, Rhonda E Schnur, Ganka Douglas, Ingrid M Wentzensen, Christiane Zweier, André Reis, Martin G Bialer, Christine Moore, Marije Koopmans, Eva H Brilstra, Glen R Monroe, Koen L I van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader (Co-author), Johannes A. Mayr (Co-author), Saskia Wortmann (Co-author), Kathy J Jakielski, Edythe A Strand, Katja Kloth, Tatjana Bierhals, John D Roberts, Robert M Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G Brunner, Paul A Wade, Simon E Fisher, Philippe M Campeau

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

74 Citations (Web of Science)

Original language	English
Pages (from-to)	4619
Journal	Nature Communications
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41467-018-06014-6
Publication status	Published - 2018

Keywords

DE-NOVO MUTATIONS
CHROMATIN REMODELING COMPLEX
INTELLECTUAL DISABILITY
DEACETYLASE COMPLEX
EXOME
DISORDER
FAMILY
GENE
NURD
DIAGNOSIS

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10.1038/s41467-018-06014-6

Cite this

Snijders Blok, L., 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., ... Campeau, P. M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1), 4619. https://doi.org/10.1038/s41467-018-06014-6

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title = "CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.",

keywords = "DE-NOVO MUTATIONS, CHROMATIN REMODELING COMPLEX, INTELLECTUAL DISABILITY, DEACETYLASE COMPLEX, EXOME, DISORDER, FAMILY, GENE, NURD, DIAGNOSIS",

author = "{Snijders Blok}, Lot and Justine Rousseau and Joanna Twist and Sophie Ehresmann and Motoki Takaku and Hanka Venselaar and Rodan, {Lance H} and Nowak, {Catherine B} and Jessica Douglas and Swoboda, {Kathryn J} and Steeves, {Marcie A} and Inderneel Sahai and Stumpel, {Connie T R M} and Stegmann, {Alexander P A} and Patricia Wheeler and Marcia Willing and Elise Fiala and Aaina Kochhar and Gibson, {William T} and Cohen, {Ana S A} and Ruky Agbahovbe and Innes, {A Micheil} and Au, {P Y Billie} and Julia Rankin and Anderson, {Ilse J} and Skinner, {Steven A} and Louie, {Raymond J} and Warren, {Hannah E} 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 {van Essen}, Ton and Murim Choi and Sangmoon Lee and Chae, {Jong H} and Susan Price and Schnur, {Rhonda E} and Ganka Douglas and Wentzensen, {Ingrid M} and Christiane Zweier and Andr{\'e} Reis and Bialer, {Martin G} and Christine Moore and Marije Koopmans and Brilstra, {Eva H} and Monroe, {Glen R} and {van Gassen}, {Koen L I} and {van Binsbergen}, Ellen and Ruth Newbury-Ecob and Lucy Bownass and Ingrid Bader and Mayr, {Johannes A.} and Saskia Wortmann and Jakielski, {Kathy J} and Strand, {Edythe A} and Katja Kloth and Tatjana Bierhals and Roberts, {John D} and Petrovich, {Robert M} 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 Brunner, {Han G} and Wade, {Paul A} and Fisher, {Simon E} and Campeau, {Philippe M}",

note = "Bader, I; Wortmann, SB; Mayr, JA: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria",

year = "2018",

doi = "10.1038/s41467-018-06014-6",

language = "English",

volume = "9",

pages = "4619",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "NATURE PORTFOLIO",

number = "1",

}

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, S, Jakielski, KJ, Strand, EA, Kloth, K, Bierhals, T, 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 2018, 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.', Nature Communications, vol. 9, no. 1, pp. 4619. https://doi.org/10.1038/s41467-018-06014-6

TY - JOUR

T1 - CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

AU - Snijders Blok, Lot

AU - Rousseau, Justine

AU - Twist, Joanna

AU - Ehresmann, Sophie

AU - Takaku, Motoki

AU - Venselaar, Hanka

AU - Rodan, Lance H

AU - Nowak, Catherine B

AU - Douglas, Jessica

AU - Swoboda, Kathryn J

AU - Steeves, Marcie A

AU - Sahai, Inderneel

AU - Stumpel, Connie T R M

AU - Stegmann, Alexander P A

AU - Wheeler, Patricia

AU - Willing, Marcia

AU - Fiala, Elise

AU - Kochhar, Aaina

AU - Gibson, William T

AU - Cohen, Ana S A

AU - Agbahovbe, Ruky

AU - Innes, A Micheil

AU - Au, P Y Billie

AU - Rankin, Julia

AU - Anderson, Ilse J

AU - Skinner, Steven A

AU - Louie, Raymond J

AU - Warren, Hannah E

AU - Afenjar, Alexandra

AU - Keren, Boris

AU - Nava, Caroline

AU - Buratti, Julien

AU - Isapof, Arnaud

AU - Rodriguez, Diana

AU - Lewandowski, Raymond

AU - Propst, Jennifer

AU - van Essen, Ton

AU - Choi, Murim

AU - Lee, Sangmoon

AU - Chae, Jong H

AU - Price, Susan

AU - Schnur, Rhonda E

AU - Douglas, Ganka

AU - Wentzensen, Ingrid M

AU - Zweier, Christiane

AU - Reis, André

AU - Bialer, Martin G

AU - Moore, Christine

AU - Koopmans, Marije

AU - Brilstra, Eva H

AU - Monroe, Glen R

AU - van Gassen, Koen L I

AU - van Binsbergen, Ellen

AU - Newbury-Ecob, Ruth

AU - Bownass, Lucy

AU - Bader, Ingrid

AU - Mayr, Johannes A.

AU - Wortmann, Saskia

AU - Jakielski, Kathy J

AU - Strand, Edythe A

AU - Kloth, Katja

AU - Bierhals, Tatjana

AU - Roberts, John D

AU - Petrovich, Robert M

AU - Machida, Shinichi

AU - Kurumizaka, Hitoshi

AU - Lelieveld, Stefan

AU - Pfundt, Rolph

AU - Jansen, Sandra

AU - Deriziotis, Pelagia

AU - Faivre, Laurence

AU - Thevenon, Julien

AU - Assoum, Mirna

AU - Shriberg, Lawrence

AU - Kleefstra, Tjitske

AU - Brunner, Han G

AU - Wade, Paul A

AU - Fisher, Simon E

AU - Campeau, Philippe M

N1 - Bader, I; Wortmann, SB; Mayr, JA: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria

PY - 2018

Y1 - 2018

KW - DE-NOVO MUTATIONS

KW - CHROMATIN REMODELING COMPLEX

KW - INTELLECTUAL DISABILITY

KW - DEACETYLASE COMPLEX

KW - EXOME

KW - DISORDER

KW - FAMILY

KW - GENE

KW - NURD

KW - DIAGNOSIS

U2 - 10.1038/s41467-018-06014-6

DO - 10.1038/s41467-018-06014-6

M3 - Original Article

C2 - 30397230

SN - 2041-1723

VL - 9

SP - 4619

JO - Nature Communications

JF - Nature Communications

IS - 1

ER -