Literature DB >> 22670824

Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.

F F Hamdan, H Daoud, L Patry, A Dionne-Laporte, D Spiegelman, S Dobrzeniecka, G A Rouleau, J L Michaud.   

Abstract

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Year:  2012        PMID： 22670824     DOI： 10.1111/j.1399-0004.2012.01890.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

Authors:  Jacob J Michaelson; Yujian Shi; Madhusudan Gujral; Hancheng Zheng; Dheeraj Malhotra; Xin Jin; Minghan Jian; Guangming Liu; Douglas Greer; Abhishek Bhandari; Wenting Wu; Roser Corominas; Aine Peoples; Amnon Koren; Athurva Gore; Shuli Kang; Guan Ning Lin; Jasper Estabillo; Therese Gadomski; Balvindar Singh; Kun Zhang; Natacha Akshoomoff; Christina Corsello; Steven McCarroll; Lilia M Iakoucheva; Yingrui Li; Jun Wang; Jonathan Sebat
Journal:  Cell       Date:  2012-12-21       Impact factor: 41.582

2.  METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Authors:  Rachel E Reiff; Bassam R Ali; Byron Baron; Timothy W Yu; Salma Ben-Salem; Michael E Coulter; Christian R Schubert; R Sean Hill; Nadia A Akawi; Banan Al-Younes; Namik Kaya; Gilad D Evrony; Muna Al-Saffar; Jillian M Felie; Jennifer N Partlow; Christine M Sunu; Pierre Schembri-Wismayer; Fowzan S Alkuraya; Brian F Meyer; Christopher A Walsh; Lihadh Al-Gazali; Ganeshwaran H Mochida
Journal:  Hum Mol Genet       Date:  2014-02-05       Impact factor: 6.150

3.  Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

Authors:  Laura Mary; Amélie Piton; Elise Schaefer; Francesca Mattioli; Elsa Nourisson; Claire Feger; Claire Redin; Magali Barth; Salima El Chehadeh; Estelle Colin; Christine Coubes; Laurence Faivre; Elisabeth Flori; David Geneviève; Yline Capri; Laurence Perrin; Jennifer Fabre-Teste; Dana Timbolschi; Alain Verloes; Robert Olaso; Anne Boland; Jean-François Deleuze; Jean-Louis Mandel; Bénédicte Gerard; Irina Giurgea
Journal:  Eur J Hum Genet       Date:  2018-04-26       Impact factor: 4.246

4.  Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome.

Authors:  Matthew D Rannals; Brady J Maher
Journal:  Curr Genet Med Rep       Date:  2017-02-11

5.  De novo mutations in moderate or severe intellectual disability.

Authors:  Fadi F Hamdan; Myriam Srour; Jose-Mario Capo-Chichi; Hussein Daoud; Christina Nassif; Lysanne Patry; Christine Massicotte; Amirthagowri Ambalavanan; Dan Spiegelman; Ousmane Diallo; Edouard Henrion; Alexandre Dionne-Laporte; Anne Fougerat; Alexey V Pshezhetsky; Sunita Venkateswaran; Guy A Rouleau; Jacques L Michaud
Journal:  PLoS Genet       Date:  2014-10-30       Impact factor: 5.917

6.  Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

Authors:  Valerie Maduro; Barbara N Pusey; Praveen F Cherukuri; Paul Atkins; Christèle du Souich; Rosemarie Rupps; Marjolaine Limbos; David R Adams; Samarth S Bhatt; Patrice Eydoux; Amanda E Links; Anna Lehman; May C Malicdan; Christopher E Mason; Marie Morimoto; James C Mullikin; Andrew Sear; Clara Van Karnebeek; Pawel Stankiewicz; William A Gahl; Camilo Toro; Cornelius F Boerkoel
Journal:  Orphanet J Rare Dis       Date:  2016-05-14       Impact factor: 4.123

7.  Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

Authors:  Roser Corominas; Xinping Yang; Guan Ning Lin; Shuli Kang; Yun Shen; Lila Ghamsari; Martin Broly; Maria Rodriguez; Stanley Tam; Shelly A Trigg; Changyu Fan; Song Yi; Murat Tasan; Irma Lemmens; Xingyan Kuang; Nan Zhao; Dheeraj Malhotra; Jacob J Michaelson; Vladimir Vacic; Michael A Calderwood; Frederick P Roth; Jan Tavernier; Steve Horvath; Kourosh Salehi-Ashtiani; Dmitry Korkin; Jonathan Sebat; David E Hill; Tong Hao; Marc Vidal; Lilia M Iakoucheva
Journal:  Nat Commun       Date:  2014-04-11       Impact factor: 14.919

8.  Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Authors:  Claire Redin; Bénédicte Gérard; Julia Lauer; Yvan Herenger; Jean Muller; Angélique Quartier; Alice Masurel-Paulet; Marjolaine Willems; Gaétan Lesca; Salima El-Chehadeh; Stéphanie Le Gras; Serge Vicaire; Muriel Philipps; Michaël Dumas; Véronique Geoffroy; Claire Feger; Nicolas Haumesser; Yves Alembik; Magalie Barth; Dominique Bonneau; Estelle Colin; Hélène Dollfus; Bérénice Doray; Marie-Ange Delrue; Valérie Drouin-Garraud; Elisabeth Flori; Mélanie Fradin; Christine Francannet; Alice Goldenberg; Serge Lumbroso; Michèle Mathieu-Dramard; Dominique Martin-Coignard; Didier Lacombe; Gilles Morin; Anne Polge; Sylvie Sukno; Christel Thauvin-Robinet; Julien Thevenon; Martine Doco-Fenzy; David Genevieve; Pierre Sarda; Patrick Edery; Bertrand Isidor; Bernard Jost; Laurence Olivier-Faivre; Jean-Louis Mandel; Amélie Piton
Journal:  J Med Genet       Date:  2014-08-28       Impact factor: 6.318
  8 in total

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