Mohammad AN - Search Results

1

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.

Caulfield TR, Richter JE Jr, Brown EE, Mohammad AN, Judge DP, Atwal PS. Caulfield TR, et al. Among authors: mohammad an. Mol Genet Genomic Med. 2018 Apr 26;6(4):666-72. doi: 10.1002/mgg3.401. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29700987 Free PMC article.

2

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

Harris AL, Blackburn PR, Richter JE Jr, Gass JM, Caulfield TR, Mohammad AN, Atwal PS. Harris AL, et al. Among authors: mohammad an. Case Rep Genet. 2018 Feb 22;2018:6968395. doi: 10.1155/2018/6968395. eCollection 2018. Case Rep Genet. 2018. PMID: 29682366 Free PMC article.

3

A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser.

Mohammad AN, Atwal PS. Mohammad AN, et al. J Pediatr Genet. 2018 Jun;7(2):83-85. doi: 10.1055/s-0037-1612592. Epub 2017 Dec 8. J Pediatr Genet. 2018. PMID: 29707410 Free PMC article.

4

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR. Richter JE Jr, et al. Among authors: mohammad an. Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235. doi: 10.1002/mgg3.454. Epub 2018 Sep 5. Mol Genet Genomic Med. 2018. PMID: 30187681 Free PMC article.

5

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.

Hines SL, Richter JE Jr, Mohammad AN, Mahim J, Atwal PS, Caulfield TR. Hines SL, et al. Among authors: mohammad an. Mol Genet Genomic Med. 2019 Mar;7(3):e566. doi: 10.1002/mgg3.566. Epub 2019 Jan 28. Mol Genet Genomic Med. 2019. PMID: 30693671 Free PMC article.

6

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

Richter JE Jr, Vadlamudi C, Macklin SK, Samreen A, Helmi H, Broderick D, Mohammad AN, Hines SL, VanGerpen JA, Atwal PS, Caulfield TR. Richter JE Jr, et al. Among authors: mohammad an. Case Rep Genet. 2020 Jan 25;2020:3256539. doi: 10.1155/2020/3256539. eCollection 2020. Case Rep Genet. 2020. PMID: 32047678 Free PMC article.

7

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype.

Richter JE, Robles HG, Mauricio E, Mohammad A, Atwal PS, Caulfield TR. Richter JE, et al. Hum Genome Var. 2018 Apr 5;5:18016. doi: 10.1038/hgv.2018.16. eCollection 2018. Hum Genome Var. 2018. PMID: 29644085 Free PMC article.

8

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

Hines SL, Agarwal A, Ghandour M, Aslam N, Mohammad AN, Atwal PS. Hines SL, et al. Among authors: mohammad an. Hum Genome Var. 2018 Jul 10;5:15. doi: 10.1038/s41439-018-0016-8. eCollection 2018. Hum Genome Var. 2018. PMID: 30002862 Free PMC article.

9

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.

Mohammad AN, Bruno KA, Hines S, Atwal PS. Mohammad AN, et al. Mol Genet Metab Rep. 2018 Jan 12;15:11-14. doi: 10.1016/j.ymgmr.2017.12.005. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023283 Free PMC article.

10

Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.

Hines SL, Mohammad AN, Jackson J, Macklin S, Caulfield TR. Hines SL, et al. Among authors: mohammad an. Mol Omics. 2019 Feb 11;15(1):59-66. doi: 10.1039/c8mo00137e. Mol Omics. 2019. PMID: 30633282

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