Publications by authors named "Mahshid Azamian"

25Publications

A novel CACNA1A variant in a child with early stroke and intractable epilepsy.

Mol Genet Genomic Med 2020 Jul 21:e1383. Epub 2020 Jul 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1002/mgg3.1383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549575PMC
July 2020

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.

Am J Med Genet A 2020 Aug 25;182(8):1960-1966. Epub 2020 May 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.61634DOI Listing
August 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.

Genet Med 2019 11 17;21(11):2453-2461. Epub 2019 Apr 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://www.nature.com/articles/s41436-019-0516-z
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http://dx.doi.org/10.1038/s41436-019-0516-zDOI Listing
November 2019

Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome.

J Pediatr 2018 11 29;202:206-211.e2. Epub 2018 Aug 29.

Section of Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.07.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203622PMC
November 2018

Plasma Glutamine Is a Minor Precursor for the Synthesis of Citrulline: A Multispecies Study.

J Nutr 2017 04 8;147(4):549-555. Epub 2017 Mar 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.3945/jn.116.243592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368584PMC
April 2017

Cytogenomic Aberrations in Congenital Cardiovascular Malformations.

Mol Syndromol 2016 May 26;7(2):51-61. Epub 2016 Apr 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex., USA.

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http://dx.doi.org/10.1159/000445788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906429PMC
May 2016

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013