Rizzo WB - Search Results

1

Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

Groza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, Pastinen T. Groza C, et al. Among authors: rizzo wb. Nat Commun. 2024 Jan 22;15(1):657. doi: 10.1038/s41467-024-44980-2. Nat Commun. 2024. PMID: 38253606 Free PMC article.

2

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.

Elias ER, Orth LE, Li A, Xu L, Jones SM, Rizzo WB. Elias ER, et al. Among authors: rizzo wb. Mol Genet Metab Rep. 2023 Nov 28;38:101030. doi: 10.1016/j.ymgmr.2023.101030. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38077958 Free PMC article.

3

Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.

Dai HD, Qiu F, Jackson K, Fruttiger M, Rizzo WB. Dai HD, et al. Among authors: rizzo wb. Metabolites. 2023 May 23;13(6):682. doi: 10.3390/metabo13060682. Metabolites. 2023. PMID: 37367841 Free PMC article.

4

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.

Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, Johnston JJ, Gibson M, Evrony G, Rizzo WB, Thiffault I, Younger ST, Curran T, Wenger AM, Grundberg E, Pastinen T. Cheung WA, et al. Among authors: rizzo wb. Nat Commun. 2023 May 29;14(1):3090. doi: 10.1038/s41467-023-38782-1. Nat Commun. 2023. PMID: 37248219 Free PMC article.

5

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

Baker CV, Cady Keller A, Lutz R, Eveans K, Baumert K, DiPerna JC, Rizzo WB. Baker CV, et al. Among authors: rizzo wb. Int J Neonatal Screen. 2022 Apr 26;8(2):29. doi: 10.3390/ijns8020029. Int J Neonatal Screen. 2022. PMID: 35645283 Free PMC article.

6

Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents.

Rizzo WB, S'aulis D, Dorwart E, Bailey Z. Rizzo WB, et al. Mol Genet Metab Rep. 2021 Dec 23;30:100839. doi: 10.1016/j.ymgmr.2021.100839. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 35242571 Free PMC article.

7

Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.

Bose M, Roullet JB, Gibson KM, Rizzo WB, Mansur HM, McConnell A, Hoffman CA, DiBacco ML, Pearl PL. Bose M, et al. Among authors: rizzo wb. J Child Neurol. 2021 Nov;36(13-14):1223-1230. doi: 10.1177/08830738211028388. Epub 2021 Aug 31. J Child Neurol. 2021. PMID: 34463169 Free PMC article.

8

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.

Warrack S, Love T, Rizzo WB. Warrack S, et al. Among authors: rizzo wb. J Child Neurol. 2021 Oct;36(11):1011-1016. doi: 10.1177/08830738211029390. Epub 2021 Jul 28. J Child Neurol. 2021. PMID: 34315315 Free PMC article.

9

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.

Rajeshwari M, Karthi S, Singh R, Efthymiou S, Gowda VK, Varalakshmi P, Srinivasan VM, Houlden H, Keller MA, Rizzo WB, Ashokkumar B. Rajeshwari M, et al. Among authors: rizzo wb. Hum Mutat. 2021 Aug;42(8):1015-1029. doi: 10.1002/humu.24236. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34082469

10

Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers.

Bose M, Cuthbertson DD, Fraser MA, Roullet JB, Gibson KM, Schules DR, Gawron KM, Gamble MB, Sacra KM, Lopez MJ, Rizzo WB. Bose M, et al. Among authors: rizzo wb. Mol Genet Metab Rep. 2020 Dec 10;25:100694. doi: 10.1016/j.ymgmr.2020.100694. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33335840 Free PMC article.

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