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

por Richter, John E, Robles, Hector G, Mauricio, Elizabeth, Mohammad, Ahmed, Atwal, Paldeep S, Caulfield, Thomas R
Publicado 2018

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

por Hines, Stephanie L., Richter, John E., Mohammad, Ahmed N., Mahim, Jain, Atwal, Paldeep S., Caulfield, Thomas R.
Publicado 2019

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por Caulfield, Thomas R., Richter, John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P., Atwal, Paldeep S.
Publicado 2018

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

por Caulfield, Thomas R., Richter, John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P., Atwal, Paldeep S.
Publicado 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

por Harris, Antoneicka L., Blackburn, Patrick R., Richter, John E., Gass, Jennifer M., Caulfield, Thomas R., Mohammad, Ahmed N., Atwal, Paldeep S.
Publicado 2018

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

por Richter, John E., Samreen, Ayesha, Vadlamudi, Charitha, Helmi, Haytham, Mohammad, Ahmed N., Wierenga, Klaas, Hines, Stephanie, Atwal, Paldeep S., Caulfield, Thomas R.
Publicado 2019

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

por 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.
Publicado 2018