Caulfield TR - Search Results

1

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: caulfield tr. Case Rep Genet. 2018 Feb 22;2018:6968395. doi: 10.1155/2018/6968395. eCollection 2018. Case Rep Genet. 2018. PMID: 29682366 Free PMC article.

2

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

Lara-Velazquez M, Perdomo-Pantoja A, Blackburn PR, Gass JM, Caulfield TR, Atwal PS. Lara-Velazquez M, et al. Among authors: caulfield tr. Mol Genet Genomic Med. 2017 Nov;5(6):781-787. doi: 10.1002/mgg3.322. Epub 2017 Jul 20. Mol Genet Genomic Med. 2017. PMID: 29178636 Free PMC article.

3

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. Among authors: caulfield tr. 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.

4

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. 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.

5

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes.

Macklin S, Mohammed A, Jackson J, Hines SL, Atwal PS, Caulfield T. Macklin S, et al. Mol Genet Genomic Med. 2018 Sep;6(5):805-810. doi: 10.1002/mgg3.447. Epub 2018 Jul 24. Mol Genet Genomic Med. 2018. PMID: 30043523 Free PMC article.

6

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: caulfield tr. 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.

7

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: caulfield tr. Mol Omics. 2019 Feb 11;15(1):59-66. doi: 10.1039/c8mo00137e. Mol Omics. 2019. PMID: 30633282

8

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: caulfield tr. 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.

9

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations.

Richter JE Jr, Samreen A, Vadlamudi C, Helmi H, Mohammad AN, Wierenga K, Hines S, Atwal PS, Caulfield TR. Richter JE Jr, et al. Among authors: caulfield tr. Medicina (Kaunas). 2019 May 15;55(5):137. doi: 10.3390/medicina55050137. Medicina (Kaunas). 2019. PMID: 31096651 Free PMC article.

10

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.

Blackburn PR, Sullivan AE, Gerassimou AG, Kleinendorst L, Bersten DC, Cooiman M, Harris KG, Wierenga KJ, Klee EW, van Gerpen JA, Ross OA, van Haelst MM, Whitelaw ML, Caulfield TR, Atwal PS. Blackburn PR, et al. Among authors: caulfield tr. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz192. doi: 10.1210/clinem/dgz192. J Clin Endocrinol Metab. 2020. PMID: 31872862

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