Sateesh Maddirevula

Sateesh Maddirevula

UNVERIFIED PROFILE

Are you Sateesh Maddirevula?   Register this Author

Register author
Sateesh Maddirevula

Sateesh Maddirevula

Publications by authors named "Sateesh Maddirevula"

Are you Sateesh Maddirevula?   Register this Author

34Publications

1444Reads

9Profile Views

A de novo mutation in FMR1 in a patient with intellectual disability.

Eur J Med Genet 2019 Sep 10:103763. Epub 2019 Sep 10.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.103763DOI Listing
September 2019

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

Seizure 2019 Jul 27;69:154-172. Epub 2019 Apr 27.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10591311183064
Publisher Site
http://dx.doi.org/10.1016/j.seizure.2019.04.018DOI Listing
July 2019

Peli1b governs the brain patterning via ERK signaling pathways in zebrafish embryos.

Gene 2019 Apr 1;694:1-6. Epub 2019 Feb 1.

Department of Life Science, BK21 Plus Program, Graduate School, Chungnam National University, Daejeon 34134, South Korea. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03781119193007
Publisher Site
http://dx.doi.org/10.1016/j.gene.2018.12.078DOI Listing
April 2019

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Hum Genet 2019 Mar 18;138(3):231-239. Epub 2019 Feb 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-019-01980-3DOI Listing
March 2019

A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.

Hum Genet 2019 Jan 27;138(1):105-107. Epub 2018 Nov 27.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-018-1963-3DOI Listing
January 2019

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.

Eur J Med Genet 2019 Jan 14. Epub 2019 Jan 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.01.005DOI Listing
January 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.

Am J Hum Genet 2017 Oct 28;101(4):603-608. Epub 2017 Sep 28.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297173033
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2017.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630161PMC
October 2017

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.

Genet Med 2017 05 6;19(5):593-598. Epub 2016 Oct 6.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1038/gim.2016.155
Publisher Site
http://dx.doi.org/10.1038/gim.2016.155DOI Listing
May 2017

Sinup is essential for the integrity of centrosomes and mitotic spindles in zebrafish embryos.

Anim Cells Syst (Seoul) 2017 13;21(2):93-99. Epub 2017 Apr 13.

Department of Biological Sciences, College of Biosciences and Biotechnology, Chungnam National University, Daejeon, South Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/19768354.2017.1308438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138333PMC
April 2017

Expression patterns of prune2 is regulated by Notch and retinoic acid signaling pathways in the zebrafish embryogenesis.

Gene Expr Patterns 2017 01 11;23-24:45-51. Epub 2017 Mar 11.

Department of Life Science, BK21 Plus Program, Graduate School, Chungnam National University, Daejeon 34134, South Korea. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gep.2017.03.002DOI Listing
January 2017

Joint laxity in homozygotes for severe POU1F1 mutations.

Am J Med Genet A 2016 Dec 19;170(12):3356-3358. Epub 2016 Aug 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37941
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37941DOI Listing
December 2016

Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity.

Gut 2016 09 24;65(9):1575-7. Epub 2016 Jun 24.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/gutjnl-2016-312374DOI Listing
September 2016

Crisponi/CISS1 syndrome: A case series.

Am J Med Genet A 2016 May 24;170A(5):1236-41. Epub 2016 Jan 24.

Department of Obstetrics and Gynecology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37569DOI Listing
May 2016

Trb3 regulates LR axis formation in zebrafish embryos.

Mol Cells 2013 Dec 27;36(6):542-7. Epub 2013 Nov 27.

Department of Biological Sciences, College of Bioscience and Biotechnology, Chungnam National University, Daejeon, 305-764, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10059-013-0237-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887966PMC
December 2013

Rnf11-like is a novel component of NF-κB signaling, governing the posterior patterning in the zebrafish embryos.

Biochem Biophys Res Commun 2012 Jun 15;422(4):602-6. Epub 2012 May 15.

Department of Biological Sciences, College of Biosciences and Biotechnology, Chungnam National University, Daejeon 305-764, South Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2012.05.034DOI Listing
June 2012

Nrdp1 governs differentiation of the melanocyte lineage via Erbb3b signaling in the zebrafish embryogenesis.

Biochem Biophys Res Commun 2011 Jun 8;409(3):454-8. Epub 2011 May 8.

Department of Biological Sciences, College of Biological Sciences and Biotechnology, Chungnam National University, Daejeon 305-764, South Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2011.05.025DOI Listing
June 2011