2020

Richter Jr., J. E. et al. (2020) Characterization of a pathogenic variant in the ABCD1 gene through protein molecular modeling. Case Reports in Genetics, 2020, 3256539. (doi: 10.1155/2020/3256539) (PMID:32047678) (PMCID:PMC7003284)

2018

Richter Jr., J. E., Zimmermann, M. T., Blackburn, P. R., Mohammad, A. N., Klee, E. W., Pollard, L. M., Macmurdo, C. F., Atwal, P. S. and Caulfield, T. R. (2018) Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. Molecular Genetics and Genomic Medicine, 6(6), pp. 1229-1235. (doi: 10.1002/mgg3.454) (PMID:30187681) (PMCID:PMC6305665)

Hines, S. L., Agarwal, A., Ghandour, M., Aslam, N., Mohammad, A. N. and Atwal, P. S. (2018) Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families. Human Genome Variation, 5, 24. (doi: 10.1038/s41439-018-0025-7) (PMID:30181892) (PMCID:PMC6113300)

Hines, S. L., Agarwal, A., Ghandour, M., Aslam, N., Mohammad, A. N. and Atwal, P. S. (2018) Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families. Human Genome Variation, 5, 15. (doi: 10.1038/s41439-018-0016-8) (PMID:30002862) (PMCID:PMC6039481)

Caulfield, T. R., Richter Jr., J. E., Brown, E. E., Mohammad, A. N., Judge, D. P. and Atwal, P. S. (2018) Cover. Molecular Genetics and Genomic Medicine, 6(4), i. (doi: 10.1002/mgg3.456) (PMCID:PMC6081218)

Caulfield, T. R., Richter Jr., J. E., Brown, E. E., Mohammad, A. N., Judge, D. P. and Atwal, P. S. (2018) Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family. Molecular Genetics and Genomic Medicine, 6(4), pp. 666-672. (doi: 10.1002/mgg3.401) (PMID:29700987) (PMCID:PMC6081229)

Richter, J. E., Robles, H. G., Mauricio, E., Mohammad, A., Atwal, P. S. and Caulfield, T. R. (2018) 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. Human Genome Variation, 5, 18016. (doi: 10.1038/hgv.2018.16) (PMID:29644085) (PMCID:PMC5885040)

DeMeo, N. N., Burgess, J. D., Blackburn, P. R., Gass, J. M., Richter, J., Atwal, H. K., van Gerpen, J. A. and Atwal, P. S. (2018) Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. Clinical Case Reports, 6(1), pp. 8-13. (doi: 10.1002/ccr3.1265) (PMID:29375828) (PMCID:PMC5771904)

Harris, A. L., Blackburn, P. R., Richter, J. E., Gass, J. M., Caulfield, T. R., Mohammad, A. N. and Atwal, P. S. (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. Case Reports in Genetics, 2018, 6968395. (doi: 10.1155/2018/6968395) (PMID:29682366) (PMCID:PMC5842716)

Mohammad, A., Helmi, H. and Atwal, P. S. (2018) Patient with Marfan syndrome and a novel variant in FBN1 presenting with bilateral popliteal artery aneurysm. Case Reports in Genetics, 2018, 6780494. (doi: 10.1155/2018/6780494) (PMID:29796325) (PMCID:PMC5896231)

2017

Lara-Velazquez, M., Perdomo-Pantoja, A., Blackburn, P. R., Gass, J. M., Caulfield, T. R. and Atwal, P. S. (2017) A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency. Molecular Genetics and Genomic Medicine, 5(6), pp. 781-787. (doi: 10.1002/mgg3.322) (PMID:29178636) (PMCID:PMC5702577)

Gass, J., Blackburn, P. R., Jackson, J., Macklin, S., van Gerpen, J. and Atwal, P. S. (2017) Expanded phenotype in a patient with spastic paraplegia 7. Clinical Case Reports, 5(10), pp. 1620-1622. (doi: 10.1002/ccr3.1109) (PMID:29026558) (PMCID:PMC5628248)

Kaiwar, C., Macklin, S. K., Gass, J. M., Jackson, J., Klee, E. W., Hines, S. L., Stauffer, J. A. and Atwal, P. S. (2017) Late onset asymptomatic pancreatic neuroendocrine tumor – a case report on the phenotypic expansion for MEN1. Hereditary Cancer in Clinical Practice, 15, 10. (doi: 10.1186/s13053-017-0070-0) (PMID:28736585) (PMCID:PMC5521080)

Gass, J., Tatro, M., Blackburn, P., Hines, S. and Atwal, P. S. (2017) BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. Clinical Case Reports, 5(2), pp. 104-107. (doi: 10.1002/ccr3.793) (PMID:28174632) (PMCID:PMC5290515)

Garcia, S., Schuh, M., Cheema, A., Atwal, H. and Atwal, P. S. (2017) Palpitations and asthenia associated with venlafaxine in a CYP2D6 poor metabolizer and CYP2C19 intermediate metabolizer. Case Reports in Genetics, 2017, 6236714. (doi: 10.1155/2017/6236714) (PMID:29123929) (PMCID:PMC5662806)

Santos, C. D., Ratzlaff, R. A., Meder, J. C., Atwal, P. S. and Joyce, N. E. (2017) Ornithine transcarbamylase deficiency: if at first you do not diagnose, try and try again. Case Reports in Critical Care, 2017, 8724810. (doi: 10.1155/2017/8724810) (PMID:29279777) (PMCID:PMC5723938)

Zimmermann, M. T., Urrutia, R. A., Blackburn, P. R., Cousin, M. A., Boczek, N. J., Klee, E. W., Macmurdo, C. and Atwal, P. S. (2017) Novel pathogenic variant in TGFBR2 confirmed by molecular modeling is a rare cause of Loeys-Dietz syndrome. Case Reports in Genetics, 2017, 7263780. (doi: 10.1155/2017/7263780) (PMID:28163941) (PMCID:PMC5253504)

2014

Atwal, P.S. and Hudgins, L. (2014) Expanding the Clinical Phenotype of HDAC8 Mutations. 2nd International Conference on Biomedicine and Pharmaceutics (ICBP) 2014, Zhuhai, China, 17-19 Oct 2014. p. 208. ISBN 1081-5589 (doi: 10.1097/JIM.0000000000000115)

Atwal, P. S. et al. (2014) Clinical whole-exome sequencing: are we there yet? Genetics in Medicine, 16(9), pp. 717-719. (doi: 10.1038/gim.2014.10) (PMID:24525916)

Kaiser, F. J. et al. (2014) Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Human Molecular Genetics, 23(11), pp. 2888-2900. (doi: 10.1093/hmg/ddu002) (PMID:24403048) (PMCID:PMC4014191)

Atwal, P.S. , Le, A.T., Moore, T., Cowan, T. and Enns, G.M. (2014) Biomarkers for Evidence of Mitochondrial Dysfunction in Cobalamin C Disease. 37th Annual Meeting of the Society for Inherited Metabolic Disorders (SIMD), Pacific Grove, CA, USA, 09-12 Mar 2014. p. 247. (doi: 10.1016/j.ymgme.2014.01.004)

Atwal, P.S. (2014) Novel mutations in NPHS1 are a rare cause of congenital nephrotic syndrome. Austin Pediatrics, 1(3), 1014.

2013

Atwal, P.S. (2013) Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome. In: Zschocke, J., Gibson, K. M., Brown, G., Morava, E. and Peters, V. (eds.) JIMD Reports, Volume 14. Series: JIMD reports (14). Springer: Berlin, pp. 43-45. ISBN 9783662437476 (doi: 10.1007/8904_2013_282)

2009

Garrick, V., Atwal, P. , Barclay, A.R., McGrogan, P. and Russell, R.K. (2009) Successful implementation of a nurse-led teaching programme to independently administer subcutaneous methotrexate in the community setting to children with Crohn's disease. Alimentary Pharmacology and Therapeutics, 29(1), pp. 90-96. (doi: 10.1111/j.1365-2036.2008.03861.x) (PMID:18945263)

Articles

Richter Jr., J. E. et al. (2020) Characterization of a pathogenic variant in the ABCD1 gene through protein molecular modeling. Case Reports in Genetics, 2020, 3256539. (doi: 10.1155/2020/3256539) (PMID:32047678) (PMCID:PMC7003284)

Richter Jr., J. E., Zimmermann, M. T., Blackburn, P. R., Mohammad, A. N., Klee, E. W., Pollard, L. M., Macmurdo, C. F., Atwal, P. S. and Caulfield, T. R. (2018) Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. Molecular Genetics and Genomic Medicine, 6(6), pp. 1229-1235. (doi: 10.1002/mgg3.454) (PMID:30187681) (PMCID:PMC6305665)

Hines, S. L., Agarwal, A., Ghandour, M., Aslam, N., Mohammad, A. N. and Atwal, P. S. (2018) Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families. Human Genome Variation, 5, 24. (doi: 10.1038/s41439-018-0025-7) (PMID:30181892) (PMCID:PMC6113300)

Hines, S. L., Agarwal, A., Ghandour, M., Aslam, N., Mohammad, A. N. and Atwal, P. S. (2018) Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families. Human Genome Variation, 5, 15. (doi: 10.1038/s41439-018-0016-8) (PMID:30002862) (PMCID:PMC6039481)

Caulfield, T. R., Richter Jr., J. E., Brown, E. E., Mohammad, A. N., Judge, D. P. and Atwal, P. S. (2018) Cover. Molecular Genetics and Genomic Medicine, 6(4), i. (doi: 10.1002/mgg3.456) (PMCID:PMC6081218)

Caulfield, T. R., Richter Jr., J. E., Brown, E. E., Mohammad, A. N., Judge, D. P. and Atwal, P. S. (2018) Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family. Molecular Genetics and Genomic Medicine, 6(4), pp. 666-672. (doi: 10.1002/mgg3.401) (PMID:29700987) (PMCID:PMC6081229)

Richter, J. E., Robles, H. G., Mauricio, E., Mohammad, A., Atwal, P. S. and Caulfield, T. R. (2018) 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. Human Genome Variation, 5, 18016. (doi: 10.1038/hgv.2018.16) (PMID:29644085) (PMCID:PMC5885040)

DeMeo, N. N., Burgess, J. D., Blackburn, P. R., Gass, J. M., Richter, J., Atwal, H. K., van Gerpen, J. A. and Atwal, P. S. (2018) Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. Clinical Case Reports, 6(1), pp. 8-13. (doi: 10.1002/ccr3.1265) (PMID:29375828) (PMCID:PMC5771904)

Harris, A. L., Blackburn, P. R., Richter, J. E., Gass, J. M., Caulfield, T. R., Mohammad, A. N. and Atwal, P. S. (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. Case Reports in Genetics, 2018, 6968395. (doi: 10.1155/2018/6968395) (PMID:29682366) (PMCID:PMC5842716)

Mohammad, A., Helmi, H. and Atwal, P. S. (2018) Patient with Marfan syndrome and a novel variant in FBN1 presenting with bilateral popliteal artery aneurysm. Case Reports in Genetics, 2018, 6780494. (doi: 10.1155/2018/6780494) (PMID:29796325) (PMCID:PMC5896231)

Lara-Velazquez, M., Perdomo-Pantoja, A., Blackburn, P. R., Gass, J. M., Caulfield, T. R. and Atwal, P. S. (2017) A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency. Molecular Genetics and Genomic Medicine, 5(6), pp. 781-787. (doi: 10.1002/mgg3.322) (PMID:29178636) (PMCID:PMC5702577)

Gass, J., Blackburn, P. R., Jackson, J., Macklin, S., van Gerpen, J. and Atwal, P. S. (2017) Expanded phenotype in a patient with spastic paraplegia 7. Clinical Case Reports, 5(10), pp. 1620-1622. (doi: 10.1002/ccr3.1109) (PMID:29026558) (PMCID:PMC5628248)

Kaiwar, C., Macklin, S. K., Gass, J. M., Jackson, J., Klee, E. W., Hines, S. L., Stauffer, J. A. and Atwal, P. S. (2017) Late onset asymptomatic pancreatic neuroendocrine tumor – a case report on the phenotypic expansion for MEN1. Hereditary Cancer in Clinical Practice, 15, 10. (doi: 10.1186/s13053-017-0070-0) (PMID:28736585) (PMCID:PMC5521080)

Gass, J., Tatro, M., Blackburn, P., Hines, S. and Atwal, P. S. (2017) BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. Clinical Case Reports, 5(2), pp. 104-107. (doi: 10.1002/ccr3.793) (PMID:28174632) (PMCID:PMC5290515)

Garcia, S., Schuh, M., Cheema, A., Atwal, H. and Atwal, P. S. (2017) Palpitations and asthenia associated with venlafaxine in a CYP2D6 poor metabolizer and CYP2C19 intermediate metabolizer. Case Reports in Genetics, 2017, 6236714. (doi: 10.1155/2017/6236714) (PMID:29123929) (PMCID:PMC5662806)

Santos, C. D., Ratzlaff, R. A., Meder, J. C., Atwal, P. S. and Joyce, N. E. (2017) Ornithine transcarbamylase deficiency: if at first you do not diagnose, try and try again. Case Reports in Critical Care, 2017, 8724810. (doi: 10.1155/2017/8724810) (PMID:29279777) (PMCID:PMC5723938)

Zimmermann, M. T., Urrutia, R. A., Blackburn, P. R., Cousin, M. A., Boczek, N. J., Klee, E. W., Macmurdo, C. and Atwal, P. S. (2017) Novel pathogenic variant in TGFBR2 confirmed by molecular modeling is a rare cause of Loeys-Dietz syndrome. Case Reports in Genetics, 2017, 7263780. (doi: 10.1155/2017/7263780) (PMID:28163941) (PMCID:PMC5253504)

Atwal, P. S. et al. (2014) Clinical whole-exome sequencing: are we there yet? Genetics in Medicine, 16(9), pp. 717-719. (doi: 10.1038/gim.2014.10) (PMID:24525916)

Kaiser, F. J. et al. (2014) Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Human Molecular Genetics, 23(11), pp. 2888-2900. (doi: 10.1093/hmg/ddu002) (PMID:24403048) (PMCID:PMC4014191)

Atwal, P.S. (2014) Novel mutations in NPHS1 are a rare cause of congenital nephrotic syndrome. Austin Pediatrics, 1(3), 1014.

Garrick, V., Atwal, P. , Barclay, A.R., McGrogan, P. and Russell, R.K. (2009) Successful implementation of a nurse-led teaching programme to independently administer subcutaneous methotrexate in the community setting to children with Crohn's disease. Alimentary Pharmacology and Therapeutics, 29(1), pp. 90-96. (doi: 10.1111/j.1365-2036.2008.03861.x) (PMID:18945263)

Book Sections

Atwal, P.S. (2013) Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome. In: Zschocke, J., Gibson, K. M., Brown, G., Morava, E. and Peters, V. (eds.) JIMD Reports, Volume 14. Series: JIMD reports (14). Springer: Berlin, pp. 43-45. ISBN 9783662437476 (doi: 10.1007/8904_2013_282)

Conference or Workshop Item

Atwal, P.S. and Hudgins, L. (2014) Expanding the Clinical Phenotype of HDAC8 Mutations. 2nd International Conference on Biomedicine and Pharmaceutics (ICBP) 2014, Zhuhai, China, 17-19 Oct 2014. p. 208. ISBN 1081-5589 (doi: 10.1097/JIM.0000000000000115)

Atwal, P.S. , Le, A.T., Moore, T., Cowan, T. and Enns, G.M. (2014) Biomarkers for Evidence of Mitochondrial Dysfunction in Cobalamin C Disease. 37th Annual Meeting of the Society for Inherited Metabolic Disorders (SIMD), Pacific Grove, CA, USA, 09-12 Mar 2014. p. 247. (doi: 10.1016/j.ymgme.2014.01.004)