Atwal PS - Search Results

1

Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.

Gupta A, Zimmermann MT, Wang H, Broski SM, Sigafoos AN, Macklin SK, Urrutia RA, Clark KJ, Atwal PS, Pignolo RJ, Klee EW. Gupta A, et al. Among authors: atwal ps. Am J Med Genet A. 2019 Sep;179(9):1764-1777. doi: 10.1002/ajmg.a.61274. Epub 2019 Jun 26. Am J Med Genet A. 2019. PMID: 31240838

2

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.

Macklin S, Durand N, Atwal P, Hines S. Macklin S, et al. Genet Med. 2018 Mar;20(3):346-350. doi: 10.1038/gim.2017.207. Epub 2017 Dec 7. Genet Med. 2018. PMID: 29215655 Free article.

3

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS. Blackburn PR, et al. Among authors: atwal ps. BMC Med Genet. 2016 Dec 5;17(1):93. doi: 10.1186/s12881-016-0354-7. BMC Med Genet. 2016. PMID: 27919237 Free PMC article.

4

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.

Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS. Zimmermann MT, et al. Among authors: atwal ps. Case Rep Genet. 2017;2017:7263780. doi: 10.1155/2017/7263780. Epub 2017 Jan 9. Case Rep Genet. 2017. PMID: 28163941 Free PMC article.

5

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

Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR. Richter JE Jr, et al. Among authors: atwal ps. Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235. doi: 10.1002/mgg3.454. Epub 2018 Sep 5. Mol Genet Genomic Med. 2018. PMID: 30187681 Free PMC article.

6

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes.

Macklin S, Mohammed A, Jackson J, Hines SL, Atwal PS, Caulfield T. Macklin S, et al. Among authors: atwal ps. Mol Genet Genomic Med. 2018 Sep;6(5):805-810. doi: 10.1002/mgg3.447. Epub 2018 Jul 24. Mol Genet Genomic Med. 2018. PMID: 30043523 Free PMC article.

7

Impact of integrated translational research on clinical exome sequencing.

Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Klee EW, et al. Among authors: atwal ps. Genet Med. 2021 Mar;23(3):498-507. doi: 10.1038/s41436-020-01005-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144682 Free article.

8

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

Kaiwar C, Macklin SK, Gass JM, Jackson J, Klee EW, Hines SL, Stauffer JA, Atwal PS. Kaiwar C, et al. Among authors: atwal ps. Hered Cancer Clin Pract. 2017 Jul 21;15:10. doi: 10.1186/s13053-017-0070-0. eCollection 2017. Hered Cancer Clin Pract. 2017. PMID: 28736585 Free PMC article.

9

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

Richter JE Jr, Vadlamudi C, Macklin SK, Samreen A, Helmi H, Broderick D, Mohammad AN, Hines SL, VanGerpen JA, Atwal PS, Caulfield TR. Richter JE Jr, et al. Among authors: atwal ps. Case Rep Genet. 2020 Jan 25;2020:3256539. doi: 10.1155/2020/3256539. eCollection 2020. Case Rep Genet. 2020. PMID: 32047678 Free PMC article.

10

Maple syrup urine disease: mechanisms and management.

Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Blackburn PR, et al. Among authors: atwal hk, atwal ps. Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017. Appl Clin Genet. 2017. PMID: 28919799 Free PMC article. Review.

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