Literature DB >> 31729158

X-chromosome association studies of congenital heart defects.

A J Agopian1, Thanh T Hoang1, Elizabeth Goldmuntz2,3, Hakon Hakonarson3,4, Fadi I Musfee1, Laura E Mitchell1.   

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Year:  2019        PMID： 31729158      PMCID： PMC7539172          DOI： 10.1002/ajmg.a.61411

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  24 in total

1.  CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.

Authors:  I Voineagu; L Huang; K Winden; M Lazaro; E Haan; J Nelson; J McGaughran; L S Nguyen; K Friend; A Hackett; M Field; J Gecz; D Geschwind
Journal:  Mol Psychiatry       Date:  2011-08-09       Impact factor: 15.992

2.  Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

Authors:  A J Agopian; Elizabeth Goldmuntz; Hakon Hakonarson; Anshuman Sewda; Deanne Taylor; Laura E Mitchell
Journal:  Circ Cardiovasc Genet       Date:  2017-06

3.  Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Authors:  Adam J Shapiro; Stephanie D Davis; Thomas Ferkol; Sharon D Dell; Margaret Rosenfeld; Kenneth N Olivier; Scott D Sagel; Carlos Milla; Maimoona A Zariwala; Whitney Wolf; Johnny L Carson; Milan J Hazucha; Kimberlie Burns; Blair Robinson; Michael R Knowles; Margaret W Leigh
Journal:  Chest       Date:  2014-11       Impact factor: 9.410

4.  Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Authors:  Bobby G Ng; Kimiyo Raymond; Martin Kircher; Kati J Buckingham; Tim Wood; Jay Shendure; Deborah A Nickerson; Michael J Bamshad; Jonathan T S Wong; Fabiola Paoli Monteiro; Brett H Graham; Sheryl Jackson; Rebecca Sparkes; Angela E Scheuerle; Sara Cathey; Fernando Kok; James B Gibson; Hudson H Freeze
Journal:  Hum Mutat       Date:  2015-08-27       Impact factor: 4.878

5.  METAL: fast and efficient meta-analysis of genomewide association scans.

Authors:  Cristen J Willer; Yun Li; Gonçalo R Abecasis
Journal:  Bioinformatics       Date:  2010-07-08       Impact factor: 6.937

6.  Second-generation PLINK: rising to the challenge of larger and richer datasets.

Authors:  Christopher C Chang; Carson C Chow; Laurent Cam Tellier; Shashaank Vattikuti; Shaun M Purcell; James J Lee
Journal:  Gigascience       Date:  2015-02-25       Impact factor: 6.524

7.  MAGMA: generalized gene-set analysis of GWAS data.

Authors:  Christiaan A de Leeuw; Joris M Mooij; Tom Heskes; Danielle Posthuma
Journal:  PLoS Comput Biol       Date:  2015-04-17       Impact factor: 4.475

8.  Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.

Authors:  Tamara Paff; Niki T Loges; Isabella Aprea; Kaman Wu; Zeineb Bakey; Eric G Haarman; Johannes M A Daniels; Erik A Sistermans; Natalija Bogunovic; Gerard W Dougherty; Inga M Höben; Jörg Große-Onnebrink; Anja Matter; Heike Olbrich; Claudius Werner; Gerard Pals; Miriam Schmidts; Heymut Omran; Dimitra Micha
Journal:  Am J Hum Genet       Date:  2016-12-29       Impact factor: 11.025

9.  A flexible and accurate genotype imputation method for the next generation of genome-wide association studies.

Authors:  Bryan N Howie; Peter Donnelly; Jonathan Marchini
Journal:  PLoS Genet       Date:  2009-06-19       Impact factor: 5.917

10.  Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

Authors:  Heather J Cordell; Jamie Bentham; Ana Topf; Diana Zelenika; Simon Heath; Chrysovalanto Mamasoula; Catherine Cosgrove; Gillian Blue; Javier Granados-Riveron; Kerry Setchfield; Chris Thornborough; Jeroen Breckpot; Rachel Soemedi; Ruairidh Martin; Thahira J Rahman; Darroch Hall; Klaartje van Engelen; Antoon F M Moorman; Aelko H Zwinderman; Phil Barnett; Tamara T Koopmann; Michiel E Adriaens; Andras Varro; Alfred L George; Christobal dos Remedios; Nanette H Bishopric; Connie R Bezzina; John O'Sullivan; Marc Gewillig; Frances A Bu'Lock; David Winlaw; Shoumo Bhattacharya; Koen Devriendt; J David Brook; Barbara J M Mulder; Seema Mital; Alex V Postma; G Mark Lathrop; Martin Farrall; Judith A Goodship; Bernard D Keavney
Journal:  Nat Genet       Date:  2013-05-26       Impact factor: 38.330
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