Dr Paldeep Atwal

  • Honorary Clinical Senior Lecturer (Medicine)

Publications

List by: Type | Date

Jump to: 2020 | 2018 | 2017 | 2014 | 2013 | 2009
Number of items: 24.

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., John E., Zimmermann, Michael T., Blackburn, Patrick R., Mohammad, Ahmed N., Klee, Eric W., Pollard, Laura M., Macmurdo, Colleen F., Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X and Caulfield, Thomas 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, Stephanie L., Agarwal, Anjali, Ghandour, Mohamedanwar, Aslam, Nabeel, Mohammad, Ahmed N. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Stephanie L., Agarwal, Anjali, Ghandour, Mohamedanwar, Aslam, Nabeel, Mohammad, Ahmed N. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Thomas R., Richter Jr., John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (2018) Cover. Molecular Genetics and Genomic Medicine, 6(4), i. (doi: 10.1002/mgg3.456) (PMCID:PMC6081218)

Caulfield, Thomas R., Richter Jr., John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, John E., Robles, Hector G., Mauricio, Elizabeth, Mohammad, Ahmed, Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X and Caulfield, Thomas 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, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Antoneicka L., Blackburn, Patrick R., Richter, John E., Gass, Jennifer M., Caulfield, Thomas R., Mohammad, Ahmed N. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Ahmed, Helmi, Haytham and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Montserrat, Perdomo-Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Jennifer, Blackburn, Patrick R., Jackson, Jessica, Macklin, Sarah, van Gerpen, Jay and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Charu, Macklin, Sarah K., Gass, Jennifer M., Jackson, Jessica, Klee, Eric W., Hines, Stephanie L., Stauffer, John A. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Jennifer, Tatro, Madeline, Blackburn, Patrick, Hines, Stephanie and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Sofia, Schuh, Michael, Cheema, Anvir, Atwal, Herjot and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Christan D., Ratzlaff, Robert A., Meder, Jennifer C., Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X and Joyce, Nicole 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, Michael T., Urrutia, Raul A., Blackburn, Patrick R., Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Macmurdo, Colleen and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X 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. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X, 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. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (2014) Novel mutations in NPHS1 are a rare cause of congenital nephrotic syndrome. Austin Pediatrics, 1(3), 1014.

2013

Atwal, P.S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (2013) Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome. In: Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva and Peters, Verena (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. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X, 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)

This list was generated on Sat Jul 12 17:48:46 2025 BST.
Jump to: Articles | Book Sections | Conference or Workshop Item
Number of items: 24.

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., John E., Zimmermann, Michael T., Blackburn, Patrick R., Mohammad, Ahmed N., Klee, Eric W., Pollard, Laura M., Macmurdo, Colleen F., Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X and Caulfield, Thomas 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, Stephanie L., Agarwal, Anjali, Ghandour, Mohamedanwar, Aslam, Nabeel, Mohammad, Ahmed N. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Stephanie L., Agarwal, Anjali, Ghandour, Mohamedanwar, Aslam, Nabeel, Mohammad, Ahmed N. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Thomas R., Richter Jr., John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (2018) Cover. Molecular Genetics and Genomic Medicine, 6(4), i. (doi: 10.1002/mgg3.456) (PMCID:PMC6081218)

Caulfield, Thomas R., Richter Jr., John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, John E., Robles, Hector G., Mauricio, Elizabeth, Mohammad, Ahmed, Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X and Caulfield, Thomas 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, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Antoneicka L., Blackburn, Patrick R., Richter, John E., Gass, Jennifer M., Caulfield, Thomas R., Mohammad, Ahmed N. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Ahmed, Helmi, Haytham and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Montserrat, Perdomo-Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Jennifer, Blackburn, Patrick R., Jackson, Jessica, Macklin, Sarah, van Gerpen, Jay and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Charu, Macklin, Sarah K., Gass, Jennifer M., Jackson, Jessica, Klee, Eric W., Hines, Stephanie L., Stauffer, John A. and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Jennifer, Tatro, Madeline, Blackburn, Patrick, Hines, Stephanie and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Sofia, Schuh, Michael, Cheema, Anvir, Atwal, Herjot and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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, Christan D., Ratzlaff, Robert A., Meder, Jennifer C., Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X and Joyce, Nicole 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, Michael T., Urrutia, Raul A., Blackburn, Patrick R., Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Macmurdo, Colleen and Atwal, Paldeep S. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (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. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (2014) Novel mutations in NPHS1 are a rare cause of congenital nephrotic syndrome. Austin Pediatrics, 1(3), 1014.

Garrick, V., Atwal, P. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X, 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. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X (2013) Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome. In: Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva and Peters, Verena (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. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X 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. ORCID logoORCID: https://orcid.org/0000-0002-8515-744X, 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)

This list was generated on Sat Jul 12 17:48:46 2025 BST.