Dr Paldeep Atwal
- Honorary Clinical Senior Lecturer (Medicine)
email:
Paldeep.Atwal@glasgow.ac.uk
515 N Flagler Dr, Suite 350, 33401
Publications
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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)
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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)