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

由 Richter, John E, Robles, Hector G, Mauricio, Elizabeth, Mohammad, Ahmed, Atwal, Paldeep S, Caulfield, Thomas R
發表在 Hum Genome Var (2018)

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

由 Hines, Stephanie L., Richter, John E., Mohammad, Ahmed N., Mahim, Jain, Atwal, Paldeep S., Caulfield, Thomas R.
發表在 Mol Genet Genomic Med (2019)

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由 Caulfield, Thomas R., Richter, John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P., Atwal, Paldeep S.
發表在 Mol Genet Genomic Med (2018)

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

由 Caulfield, Thomas R., Richter, John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P., Atwal, Paldeep S.
發表在 Mol Genet Genomic Med (2018)

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

由 Harris, Antoneicka L., Blackburn, Patrick R., Richter, John E., Gass, Jennifer M., Caulfield, Thomas R., Mohammad, Ahmed N., Atwal, Paldeep S.
發表在 Case Rep Genet (2018)

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

由 Richter, John E., Samreen, Ayesha, Vadlamudi, Charitha, Helmi, Haytham, Mohammad, Ahmed N., Wierenga, Klaas, Hines, Stephanie, Atwal, Paldeep S., Caulfield, Thomas R.
發表在 Medicina (Kaunas) (2019)

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

由 Richter, John E., Zimmermann, Michael T., Blackburn, Patrick R., Mohammad, Ahmed N., Klee, Eric W., Pollard, Laura M., Macmurdo, Colleen F., Atwal, Paldeep S., Caulfield, Thomas R.
發表在 Mol Genet Genomic Med (2018)