Literature DB >> 27925620

An opportunity to address the genetic causes of birth defects.

Mustafa K Khokha1,2, Laura E Mitchell3, John B Wallingford4.   

Abstract

Entities:  

Mesh：

Year:  2016        PMID： 27925620      PMCID： PMC5842798          DOI： 10.1038/pr.2016.229

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  12 in total

1.  Causes of death among stillbirths.

Authors: 
Journal:  JAMA       Date:  2011-12-14       Impact factor: 56.272

2.  Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Authors:  Khalid A Fakhro; Murim Choi; Stephanie M Ware; John W Belmont; Jeffrey A Towbin; Richard P Lifton; Mustafa K Khokha; Martina Brueckner
Journal:  Proc Natl Acad Sci U S A       Date:  2011-01-31       Impact factor: 11.205

3.  Are children with birth defects at higher risk of childhood cancers?

Authors:  Susan E Carozza; Peter H Langlois; Eric A Miller; Mark Canfield
Journal:  Am J Epidemiol       Date:  2012-04-24       Impact factor: 4.897

4.  Cancer in children with nonchromosomal birth defects.

Authors:  Paul Graham Fisher; Peggy Reynolds; Julie Von Behren; Suzan L Carmichael; Sonja A Rasmussen; Gary M Shaw
Journal:  J Pediatr       Date:  2012-01-11       Impact factor: 4.406

5.  The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

Authors:  Bruce Gelb; Martina Brueckner; Wendy Chung; Elizabeth Goldmuntz; Jonathan Kaltman; Juan Pablo Kaski; Richard Kim; Jennie Kline; Laura Mercer-Rosa; George Porter; Amy Roberts; Ellen Rosenberg; Howard Seiden; Christine Seidman; Lynn Sleeper; Sharon Tennstedt; Jonathan Kaltman; Charlene Schramm; Kristin Burns; Gail Pearson; Ellen Rosenberg
Journal:  Circ Res       Date:  2013-02-15       Impact factor: 17.367

6.  Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study.

Authors:  P W Yoon; R S Olney; M J Khoury; W M Sappenfield; G F Chavez; D Taylor
Journal:  Arch Pediatr Adolesc Med       Date:  1997-11

7.  Fetal and Perinatal Mortality: United States, 2013.

Authors:  Marian F MacDorman; Elizabeth C W Gregory
Journal:  Natl Vital Stat Rep       Date:  2015-07-23

8.  Estimates of the economic costs of birth defects.

Authors:  N J Waitzman; P S Romano; R M Scheffler
Journal:  Inquiry       Date:  1994       Impact factor: 1.730

9.  Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Authors:  Joseph T Glessner; Alexander G Bick; Kaoru Ito; Jason Homsy; Laura Rodriguez-Murillo; Menachem Fromer; Erica Mazaika; Badri Vardarajan; Michael Italia; Jeremy Leipzig; Steven R DePalma; Ryan Golhar; Stephan J Sanders; Boris Yamrom; Michael Ronemus; Ivan Iossifov; A Jeremy Willsey; Matthew W State; Jonathan R Kaltman; Peter S White; Yufeng Shen; Dorothy Warburton; Martina Brueckner; Christine Seidman; Elizabeth Goldmuntz; Bruce D Gelb; Richard Lifton; Jonathan Seidman; Hakon Hakonarson; Wendy K Chung
Journal:  Circ Res       Date:  2014-09-09       Impact factor: 17.367

10.  De novo mutations in histone-modifying genes in congenital heart disease.

Authors:  Samir Zaidi; Murim Choi; Hiroko Wakimoto; Lijiang Ma; Jianming Jiang; John D Overton; Angela Romano-Adesman; Robert D Bjornson; Roger E Breitbart; Kerry K Brown; Nicholas J Carriero; Yee Him Cheung; John Deanfield; Steve DePalma; Khalid A Fakhro; Joseph Glessner; Hakon Hakonarson; Michael J Italia; Jonathan R Kaltman; Juan Kaski; Richard Kim; Jennie K Kline; Teresa Lee; Jeremy Leipzig; Alexander Lopez; Shrikant M Mane; Laura E Mitchell; Jane W Newburger; Michael Parfenov; Itsik Pe'er; George Porter; Amy E Roberts; Ravi Sachidanandam; Stephan J Sanders; Howard S Seiden; Mathew W State; Sailakshmi Subramanian; Irina R Tikhonova; Wei Wang; Dorothy Warburton; Peter S White; Ismee A Williams; Hongyu Zhao; Jonathan G Seidman; Martina Brueckner; Wendy K Chung; Bruce D Gelb; Elizabeth Goldmuntz; Christine E Seidman; Richard P Lifton
Journal:  Nature       Date:  2013-05-12       Impact factor: 49.962
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  2 in total

1.  Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

Authors:  Mary M Jenkins; Lynn M Almli; Faith Pangilinan; Jessica X Chong; Elizabeth E Blue; Stuart K Shapira; Janson White; Daniel McGoldrick; Joshua D Smith; James C Mullikin; Christopher J Bean; Wendy N Nembhard; Xiang-Yang Lou; Gary M Shaw; Paul A Romitti; Kim Keppler-Noreuil; Mahsa M Yazdy; Denise M Kay; Tonia C Carter; Andrew F Olshan; Kristin J Moore; Nanette Nascone-Yoder; Richard H Finnell; Philip J Lupo; Marcia L Feldkamp; Deborah A Nickerson; Michael J Bamshad; Lawrence C Brody; Jennita Reefhuis
Journal:  Birth Defects Res       Date:  2019-07-21       Impact factor: 2.344

2.  ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Authors:  Sara Cuvertino; Helen M Stuart; Kate E Chandler; Neil A Roberts; Ruth Armstrong; Laura Bernardini; Sanjeev Bhaskar; Bert Callewaert; Jill Clayton-Smith; Cristina Hernando Davalillo; Charu Deshpande; Koenraad Devriendt; Maria C Digilio; Abhijit Dixit; Matthew Edwards; Jan M Friedman; Antonio Gonzalez-Meneses; Shelagh Joss; Bronwyn Kerr; Anne Katrin Lampe; Sylvie Langlois; Rachel Lennon; Philippe Loget; David Y T Ma; Ruth McGowan; Maryse Des Medt; James O'Sullivan; Sylvie Odent; Michael J Parker; Céline Pebrel-Richard; Florence Petit; Zornitza Stark; Sylvia Stockler-Ipsiroglu; Sigrid Tinschert; Pradeep Vasudevan; Olaya Villa; Susan M White; Farah R Zahir; Adrian S Woolf; Siddharth Banka
Journal:  Am J Hum Genet       Date:  2017-12-07       Impact factor: 11.025
  2 in total

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