Literature DB >> 28640240

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

María Palomares-Bralo1,2, Elena Vallespín1,2, Ángela Del Pozo1,2, Kristina Ibañez1,2, Juan Carlos Silla1,2, Enrique Galán2,3, Gema Gordo1,2, Víctor Martínez-Glez1,2, Lázaro I Alba-Valdivia1, Karen E Heath1,2, Sixto García-Miñaúr1,2, Pablo Lapunzina1,2, Fernando Santos-Simarro1,2.   

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Year:  2017        PMID： 28640240     DOI： 10.1038/gim.2017.42

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  3 in total

1.  Imprinting: the Achilles heel of trio-based exome sequencing.

Authors:  Emmelien Aten; Michael D Fountain; Arie van Haeringen; Christian P Schaaf; Gijs W E Santen
Journal:  Genet Med       Date:  2016-09-15       Impact factor: 8.822

2.  Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Authors:  Christian P Schaaf; Manuel L Gonzalez-Garay; Fan Xia; Lorraine Potocki; Karen W Gripp; Baili Zhang; Brock A Peters; Mark A McElwain; Radoje Drmanac; Arthur L Beaudet; C Thomas Caskey; Yaping Yang
Journal:  Nat Genet       Date:  2013-09-29       Impact factor: 38.330

3.  Prevalence and architecture of de novo mutations in developmental disorders.

Authors: 
Journal:  Nature       Date:  2017-01-25       Impact factor: 49.962
  3 in total
  6 in total

1.  A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

Authors:  Antonio D Hidalgo-Santos; Maria Del Carmen DeMingo-Alemany; Francisca Moreno-Macián; Mónica Roselló; Carmen Orellana; Francisco Martínez; Alfonso Caro-Llopis; Sara León-Cariñena; Miguel Tomás-Vila
Journal:  Int J Endocrinol Metab       Date:  2018-07-01

2.  Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.

Authors:  Hyunji Ahn; Go Hun Seo; Arum Oh; Yena Lee; Changwon Keum; Sun Hee Heo; Taeho Kim; Jeongmin Choi; Gu-Hwan Kim; Tae-Sung Ko; Mi-Sun Yum; Beom Hee Lee; In Hee Choi
Journal:  Medicine (Baltimore)       Date:  2020-12-18       Impact factor: 1.817

3.  Biallelic variants in YRDC cause a developmental disorder with progeroid features.

Authors:  Julia Schmidt; Jonas Goergens; Tatiana Pochechueva; Annika Kotter; Niko Schwenzer; Maren Sitte; Gesa Werner; Janine Altmüller; Holger Thiele; Peter Nürnberg; Jörg Isensee; Yun Li; Christian Müller; Barbara Leube; H Christian Reinhardt; Tim Hucho; Gabriela Salinas; Mark Helm; Ron D Jachimowicz; Dagmar Wieczorek; Tobias Kohl; Stephan E Lehnart; Gökhan Yigit; Bernd Wollnik
Journal:  Hum Genet       Date:  2021-09-20       Impact factor: 4.132

Review 4.  Clinical exome sequencing-Mistakes and caveats.

Authors:  Jordi Corominas; Sanne P Smeekens; Marcel R Nelen; Helger G Yntema; Erik-Jan Kamsteeg; Rolph Pfundt; Christian Gilissen
Journal:  Hum Mutat       Date:  2022-03-15       Impact factor: 4.700

5.  Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Authors:  Wenjia Tong; Yajian Wang; Yun Lu; Tongsheng Ye; Conglei Song; Yuanyuan Xu; Min Li; Jie Ding; Yuanyuan Duan; Le Zhang; Weiyue Gu; Xiaoling Zhao; Xiu-An Yang; Danqun Jin
Journal:  Sci Rep       Date:  2018-03-26       Impact factor: 4.379

6.  Schaaf-Yang syndrome overview: Report of 78 individuals.

Authors:  John McCarthy; Philip J Lupo; Erin Kovar; Megan Rech; Bret Bostwick; Daryl Scott; Katerina Kraft; Tony Roscioli; Joel Charrow; Samantha A Schrier Vergano; Edward Lose; Robert Smiegel; Yves Lacassie; Christian P Schaaf
Journal:  Am J Med Genet A       Date:  2018-10-10       Impact factor: 2.802
  6 in total

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