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Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.

author

Xiaoxu Yang

2000 -

Yuehua Zhang

Adam Yongxin Ye

August Y Huang

published in: Scientific Reports

date of publication: 2017-11-15

language: English

main subject: Dravet syndrome

Cites articles 68

Date

Title

Authors

2017-07-17

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

Joseph Buxbaum, Elaine T Lim, George M. Church, Nancy J Minshew, Stephen W. Scherer, Christina M. Hultman, Ángel Carracedo, Christopher A. Walsh, Celso Arango, Mara Parellada
2017-07-01

Male patients affected by mosaic PCDH19 mutations: five new cases

Katherine L Helbig, Iris M de Lange, Dick Lindhout
2017-05-22

Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq

Kaile Wang, Xiaoxu Yang
2017-05-30

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

Xiaoxu Yang, Yanmei Dou, Adam Yongxin Ye, Linlin Yan, Qixi Wu, Boxun Zhao, August Y Huang
2017-03-27

Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families

Maris Laan, Kristiina Rull, Siim Sõber, Laura Kasak
2017-03-22

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

Jórunn Erla Eyfjörd, Marc van de Vijver, Anne-Lise Børresen-Dale, Sarah O'Meara, Anthony Fullam, Raheleh Rahbari, Sancha Martin, Moritz Gerstung, Young Seok Ju, Stian Knappskog, David C. Wedge, Sunil R Lakhani, Paul N Span, Colin A Purdie, Serena Nik-Zainal, Carlos Caldas, Sarah E. Pinder, Michael Stratton, Helen Davies
2017-02-24

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin

Alexej Abyzov, Bo Zhou, Gianfilippo Coppola, Reenal Pattni, Mark Bender Gerstein, Alexander E Urban, Flora M. Vaccarino, Nikolaos Vasmatzis
2017-03-21

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Eric Minikel
2017-01-30

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation

August Y Huang
2017-01-27

MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples

August Y Huang, Adam Yongxin Ye, Yanmei Dou, Linlin Yan, Xiaoxu Yang
2017-08-31

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Éric Fombonne
2017-08-24

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
2016-09-28

Early somatic mosaicism is a rare cause of long-QT syndrome

Charles Gawad, Patrick M Boyle, Megan E Grove, Marco V Perez, Natalia Trayanova, Stephen Quake
2016-09-15

The Contribution of Mosaic Variants to Autism Spectrum Disorder
2016-08-17

Analysis of protein-coding genetic variation in 60,706 humans

Michael Boehnke, Sekar Kathiresan, Jaakko Tuomilehto, Markku Laakso, Karol Estrada, Aarno Palotie, Taru Tukiainen, Danish Saleheen, Gad Getz, Roberto Elosua, Adam Kiezun, Joanne Berghout, Pradeep Natarajan, James Ware, Hong-Hee Won, Douglas M. Ruderfer, Hugh Christian Watkins, Kaitlin E Samocha, Dongmei Yu, Eric Minikel, Christina M. Hultman, Mark Joseph Daly, Stacey Gabriel, Steven A McCarroll, Dermot McGovern, Patrick F. Sullivan, James G. Wilson, Pamela Sklar, John Danesh, Lorena Orozco, Benjamin M. Neale, Valentin Ruano Rubio, Eric Banks, Laura D. Gauthier, Namrata Gupta, Grace Tiao, Jeremiah M Scharf, Diego Ardissino, David Altshuler, Gina M Peloso, Konrad J. Karczewski, Timothy R Fennell, Anne H O'Donnell-Luria, David N. Cooper, Daniel P Howrigan, Mark McCarthy, Shaun M Purcell, Daniel G. MacArthur, Mark DePristo, Monkol Lek, Jason Flannick, Jack A Kosmicki, Menachem Fromer, Mitja Kurki, Ami Levy Moonshine, Khalid Shakir, Christine Stevens, Ruth McPherson, Ryan Poplin
2016-08-16

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers
2016-07-27

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
2016-06-20

Parent-of-origin-specific signatures of de novo mutations

Gustavo Glusman, John E. Niederhuber, Jakob M Goldmann, Michele Pinelli, Christian Gilissen, Joris A Veltman, Alexander Hoischen
2016-03-09

Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome

Yuri Uchiyama, Hirotomo Saitsu, Hiroyuki Mishima, Akira Kinoshita
2016-03-01

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

William B. Dobyns, James T Bennett, Tiong Y Tan, Anna Lehman, John C. Su, David J Amor, Mark O'Driscoll, University of Washington Center for Mendelian Genomics, Kym M Boycott, Raoul Hennekam, Malgorzata J. M. Nowaczyk
2016-03-18

The landscape of somatic mutations in protein coding genes in apparently benign human tissues carries signatures of relaxed purifying selection

Vinod Yadav, James Degregori
2016-01-14

PCDH19-related epilepsy in two mosaic male patients

Marina Trivisano, Raffaella Cusmai, Luca De Palma, Claudia Compagnucci, Enrico Bertini, Nicola Specchio, Federico Vigevano, Alessandra Terracciano, Lucia Fusco
2016-10-10

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Marlene Rio, Nathalie Boddaert, Valerie Cormier-Daire, Arnold Munnich, Isabelle Desguerre, Claude Besmond, Pascale de Lonlay, Nadia Bahi-Buisson
2016-05-23

Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations.

Jacob Gratten, Naomi R. Wray, Peter M. Visscher, Michael Goddard, John J. McGrath
2016-03-26

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

Benjamin T Black
2016-03-21

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
2015-12-14

Timing, rates and spectra of human germline mutation

Sarah J. Lindsay, Anna Dominiczak, Arthur Wuster, Ludmil B. Alexandrov, Blair H. Smith, David J. Porteous, Michael Stratton
2015-06-30

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

Itamar Goldstein, Eva Gonzalez-Roca, Juan I Arostegui, Gidi Rechavi
2015-06-19

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome

Qixi Wu, Adam Yongxin Ye, August Y Huang, Xiaoxu Yang, Yuehua Zhang
2015-05-27

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome

Mariko Taniguchi-Ikeda
2015-05-01

Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin

Sara Widaa, Anthony Fullam, Amit Roshan, Moritz Gerstung, Philip H. Jones, David C. Wedge, Peter Van Loo, Andrew Menzies, Michael Stratton
2015-07

Somatic mosaicism: implications for disease and transmission genetics

James R. Lupski, Pawel Stankiewicz

Article - wd:Q47156246

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