Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare muta...

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Autores principales:	Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/e984b4b7e89d4200874d3fcd3c269adc
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spelling	oai:doaj.org-article:e984b4b7e89d4200874d3fcd3c269adc2021-12-02T18:51:37ZLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders10.1038/s41467-020-18723-y2041-1723https://doaj.org/article/e984b4b7e89d4200874d3fcd3c269adc2020-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-18723-yhttps://doaj.org/toc/2041-1723For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.Tianyun WangKendra HoekzemaDavide VecchioHuidan WuArvis SulovariBradley P. CoeMadelyn A. GillentineAmy B. WilfertLuis A. Perez-JuradoMalin KvarnungYoeri SleypRachel K. EarlJill A. RosenfeldMadeleine R. GeishekerLin HanBing DuChris BarnettElizabeth ThompsonMarie ShawRenee CarrollKathryn FriendRachael CatfordElizabeth E. PalmerXiaobing ZouJianjun OuHonghui LiHui GuoJennifer GerdtsEmanuela AvolaGiuseppe CalabreseMaurizio EliaDonatella GrecoAnna LindstrandAnn NordgrenBritt-Marie AnderlidGeert VandeweyerAnke Van DijckNathalie Van der AaBrooke McKennaMiroslava HancarovaSarka BendovaMarketa HavlovicovaGiovanni MalerbaBernardo Dalla BernardinaPierandrea MugliaArie van HaeringenMariette J. V. HofferBarbara FrankeGerarda CappuccioMartin DelatyckiPaul J. LockhartMelanie A. ManningPengfei LiuIngrid E. SchefferNicola Brunetti-PierriNanda RommelseDavid G. AmaralGijs W. E. SantenElisabetta TrabettiZdeněk SedláčekJacob J. MichaelsonKaren PierceEric CourchesneR. Frank KooyThe SPARK ConsortiumMagnus NordenskjöldCorrado RomanoHilde PeetersRaphael A. BernierJozef GeczKun XiaEvan E. EichlerNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Tianyun Wang Kendra Hoekzema Davide Vecchio Huidan Wu Arvis Sulovari Bradley P. Coe Madelyn A. Gillentine Amy B. Wilfert Luis A. Perez-Jurado Malin Kvarnung Yoeri Sleyp Rachel K. Earl Jill A. Rosenfeld Madeleine R. Geisheker Lin Han Bing Du Chris Barnett Elizabeth Thompson Marie Shaw Renee Carroll Kathryn Friend Rachael Catford Elizabeth E. Palmer Xiaobing Zou Jianjun Ou Honghui Li Hui Guo Jennifer Gerdts Emanuela Avola Giuseppe Calabrese Maurizio Elia Donatella Greco Anna Lindstrand Ann Nordgren Britt-Marie Anderlid Geert Vandeweyer Anke Van Dijck Nathalie Van der Aa Brooke McKenna Miroslava Hancarova Sarka Bendova Marketa Havlovicova Giovanni Malerba Bernardo Dalla Bernardina Pierandrea Muglia Arie van Haeringen Mariette J. V. Hoffer Barbara Franke Gerarda Cappuccio Martin Delatycki Paul J. Lockhart Melanie A. Manning Pengfei Liu Ingrid E. Scheffer Nicola Brunetti-Pierri Nanda Rommelse David G. Amaral Gijs W. E. Santen Elisabetta Trabetti Zdeněk Sedláček Jacob J. Michaelson Karen Pierce Eric Courchesne R. Frank Kooy The SPARK Consortium Magnus Nordenskjöld Corrado Romano Hilde Peeters Raphael A. Bernier Jozef Gecz Kun Xia Evan E. Eichler Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
description	For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.
format	article
author	Tianyun Wang Kendra Hoekzema Davide Vecchio Huidan Wu Arvis Sulovari Bradley P. Coe Madelyn A. Gillentine Amy B. Wilfert Luis A. Perez-Jurado Malin Kvarnung Yoeri Sleyp Rachel K. Earl Jill A. Rosenfeld Madeleine R. Geisheker Lin Han Bing Du Chris Barnett Elizabeth Thompson Marie Shaw Renee Carroll Kathryn Friend Rachael Catford Elizabeth E. Palmer Xiaobing Zou Jianjun Ou Honghui Li Hui Guo Jennifer Gerdts Emanuela Avola Giuseppe Calabrese Maurizio Elia Donatella Greco Anna Lindstrand Ann Nordgren Britt-Marie Anderlid Geert Vandeweyer Anke Van Dijck Nathalie Van der Aa Brooke McKenna Miroslava Hancarova Sarka Bendova Marketa Havlovicova Giovanni Malerba Bernardo Dalla Bernardina Pierandrea Muglia Arie van Haeringen Mariette J. V. Hoffer Barbara Franke Gerarda Cappuccio Martin Delatycki Paul J. Lockhart Melanie A. Manning Pengfei Liu Ingrid E. Scheffer Nicola Brunetti-Pierri Nanda Rommelse David G. Amaral Gijs W. E. Santen Elisabetta Trabetti Zdeněk Sedláček Jacob J. Michaelson Karen Pierce Eric Courchesne R. Frank Kooy The SPARK Consortium Magnus Nordenskjöld Corrado Romano Hilde Peeters Raphael A. Bernier Jozef Gecz Kun Xia Evan E. Eichler
author_facet	Tianyun Wang Kendra Hoekzema Davide Vecchio Huidan Wu Arvis Sulovari Bradley P. Coe Madelyn A. Gillentine Amy B. Wilfert Luis A. Perez-Jurado Malin Kvarnung Yoeri Sleyp Rachel K. Earl Jill A. Rosenfeld Madeleine R. Geisheker Lin Han Bing Du Chris Barnett Elizabeth Thompson Marie Shaw Renee Carroll Kathryn Friend Rachael Catford Elizabeth E. Palmer Xiaobing Zou Jianjun Ou Honghui Li Hui Guo Jennifer Gerdts Emanuela Avola Giuseppe Calabrese Maurizio Elia Donatella Greco Anna Lindstrand Ann Nordgren Britt-Marie Anderlid Geert Vandeweyer Anke Van Dijck Nathalie Van der Aa Brooke McKenna Miroslava Hancarova Sarka Bendova Marketa Havlovicova Giovanni Malerba Bernardo Dalla Bernardina Pierandrea Muglia Arie van Haeringen Mariette J. V. Hoffer Barbara Franke Gerarda Cappuccio Martin Delatycki Paul J. Lockhart Melanie A. Manning Pengfei Liu Ingrid E. Scheffer Nicola Brunetti-Pierri Nanda Rommelse David G. Amaral Gijs W. E. Santen Elisabetta Trabetti Zdeněk Sedláček Jacob J. Michaelson Karen Pierce Eric Courchesne R. Frank Kooy The SPARK Consortium Magnus Nordenskjöld Corrado Romano Hilde Peeters Raphael A. Bernier Jozef Gecz Kun Xia Evan E. Eichler
author_sort	Tianyun Wang
title	Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
title_short	Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
title_full	Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
title_fullStr	Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
title_full_unstemmed	Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
title_sort	large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/e984b4b7e89d4200874d3fcd3c269adc
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

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