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List of works by Jumana Yousuf Al-Aama

An induced pluripotent stem cell model of hypoplastic left heart syndrome (HLHS) reveals multiple expression and functional differences in HLHS-derived cardiac myocytes

scientific article published on 03 March 2014

An integrated catalog of reference genes in the human gut microbiome

scientific article

BRAF gene: From human cancers to developmental syndromes

scientific article published on 23 October 2014

Brief report: a human induced pluripotent stem cell model of cernunnos deficiency reveals an important role for XLF in the survival of the primitive hematopoietic progenitors

scientific article

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

scientific article published on 9 May 2013

Experimental and computational studies on newly synthesized resveratrol derivative: a new method for cancer chemoprevention and therapeutics?

scientific article published on 17 September 2013

First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene

scientific article published on 04 March 2014

Functional genomics based prioritization of potential nsSNPs in EPHX1, GSTT1, GSTM1 and GSTP1 genes for breast cancer susceptibility studies ⬇️

scientific article published on May 1, 2012

Gut microbiome development along the colorectal adenoma-carcinoma sequence

scientific article published on 11 March 2015

In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene ⬇️

scientific article published on July 21, 2012

Synthesis and biological activity of new resveratrol derivative and molecular docking: dynamics studies on NFkB.

scientific article published on 29 August 2013

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

scientific article

The oral and gut microbiomes are perturbed in rheumatoid arthritis and partly normalized after treatment

scientific article published on 27 July 2015

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients

scientific article

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family

scientific article published on 16 June 2015

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