D'Souza P - Search Results

1

Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies.

Salabarria SM, Corti M, Coleman KE, Wichman MB, Berthy JA, D'Souza P, Tifft CJ, Herzog RW, Elder ME, Shoemaker LR, Leon-Astudillo C, Tavakkoli F, Kirn DH, Schwartz JD, Byrne BJ. Salabarria SM, et al. J Clin Invest. 2024 Jan 2;134(1):e173510. doi: 10.1172/JCI173510. J Clin Invest. 2024. PMID: 37988172 Free PMC article.

2

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.

Macnamara EF, Koehler AE, D'Souza P, Estwick T, Lee P, Vezina G; Undiagnosed Diseases Network; Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ. Macnamara EF, et al. Hum Mutat. 2019 May;40(5):532-538. doi: 10.1002/humu.23722. Epub 2019 Mar 12. Hum Mutat. 2019. PMID: 30740830 Free PMC article.

3

The undiagnosed diseases program: Approach to diagnosis.

Macnamara EF, D'Souza P; Undiagnosed Diseases Network; Tifft CJ. Macnamara EF, et al. Transl Sci Rare Dis. 2020 Apr 13;4(3-4):179-188. doi: 10.3233/TRD-190045. Transl Sci Rare Dis. 2020. PMID: 32477883 Free PMC article.

4

Complex effects on Ca_V2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.

Grosso BJ, Kramer AA, Tyagi S, Bennett DF, Tifft CJ, D'Souza P, Wangler MF, Macnamara EF, Meza U, Bannister RA. Grosso BJ, et al. Sci Rep. 2022 Jun 2;12(1):9186. doi: 10.1038/s41598-022-12789-y. Sci Rep. 2022. PMID: 35655070 Free PMC article.

5

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis.

Kell P, Sidhu R, Qian M, Mishra S, Nicoli ER, D'Souza P, Tifft CJ, Gross AL, Gray-Edwards HL, Martin DR, Sena-Esteves M, Dietzen DJ, Singh M, Luo J, Schaffer JE, Ory DS, Jiang X. Kell P, et al. EBioMedicine. 2023 Jun;92:104627. doi: 10.1016/j.ebiom.2023.104627. Epub 2023 May 31. EBioMedicine. 2023. PMID: 37267847 Free PMC article.

6

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.

Macnamara EF, Loydpierson A, Latour YL, D'Souza P, Murphy J, Wolfe L, Estwick T, Johnston JM, Yang J; Undiagnosed Diseases Network; Acosta MT, Lee PR, Pierson TM, Soldatos A, Toro C, Markello T, Adams DR, Gahl WA, Yousef M, Tifft CJ. Macnamara EF, et al. Mol Genet Metab. 2023 Nov;140(3):107707. doi: 10.1016/j.ymgme.2023.107707. Epub 2023 Oct 10. Mol Genet Metab. 2023. PMID: 37883914

7

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Grove ME, White S, Fisk DG, Rego S, Dagan-Rosenfeld O, Kohler JN, Reuter CM, Bonner D; Undiagnosed Diseases Network; Wheeler MT, Bernstein JA, Ormond KE, Hanson-Kahn AK. Grove ME, et al. J Genet Couns. 2019 Apr;28(2):466-476. doi: 10.1002/jgc4.1094. Epub 2019 Feb 1. J Genet Couns. 2019. PMID: 30706981 Free PMC article.

8

Genomics in medicine: a novel elective rotation for internal medicine residents.

Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network; Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M. Geng LN, et al. Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22. Postgrad Med J. 2019. PMID: 31439813

9

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.

10

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Meissner LE, Macnamara EF, D'Souza P, Yang J, Vezina G; Undiagnosed Diseases Network; Ferreira CR, Zein WM, Tifft CJ, Adams DR. Meissner LE, et al. Mol Genet Genomic Med. 2020 Dec;8(12):e1544. doi: 10.1002/mgg3.1544. Epub 2020 Nov 7. Mol Genet Genomic Med. 2020. PMID: 33159716 Free PMC article. Review.

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