Renbaum P - Search Results

1

Using multi-scale genomics to associate poorly annotated genes with rare diseases.

Canavati C, Sherill-Rofe D, Kamal L, Bloch I, Zahdeh F, Sharon E, Terespolsky B, Allan IA, Rabie G, Kawas M, Kassem H, Avraham KB, Renbaum P, Levy-Lahad E, Kanaan M, Tabach Y. Canavati C, et al. Among authors: renbaum p. Genome Med. 2024 Jan 4;16(1):4. doi: 10.1186/s13073-023-01276-2. Genome Med. 2024. PMID: 38178268 Free PMC article.

2

SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.

Backenroth D, Altarescu G, Zahdeh F, Mann T, Murik O, Renbaum P, Segel R, Zeligson S, Hakam-Spector E, Carmi S, Zeevi DA. Backenroth D, et al. Among authors: renbaum p. Sci Rep. 2023 Oct 21;13(1):18036. doi: 10.1038/s41598-023-45292-z. Sci Rep. 2023. PMID: 37865712 Free PMC article.

3

Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis.

Florsheim N, Naugolni L, Zahdeh F, Lobel O, Terespolsky B, Michaelson-Cohen R, Gold MY, Goldberg M, Renbaum P, Levy-Lahad E, Zangen D. Florsheim N, et al. Among authors: renbaum p. Eur J Endocrinol. 2023 Sep 1;189(3):K7-K14. doi: 10.1093/ejendo/lvad127. Eur J Endocrinol. 2023. PMID: 37740949

4

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients.

Di Donfrancesco A, Berlingieri C, Giacomello M, Frascarelli C, Magalhaes Rebelo AP, Bindoff LA, Reeval S, Renbaum P, Santorelli FM, Massaro G, Viscomi C, Zeviani M, Ghezzi D, Bottani E, Brunetti D. Di Donfrancesco A, et al. Among authors: renbaum p. Front Pharmacol. 2023 Jul 26;14:1220620. doi: 10.3389/fphar.2023.1220620. eCollection 2023. Front Pharmacol. 2023. PMID: 37576821 Free PMC article.

5

Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.

Freund T, Baxter SK, Walsh T, Golan H, Kapelushnik J, Abramsohn-Goldenberg M, Benor S, Sarid N, Ram R, Alcalay Y, Segel R, Renbaum P, Stepensky P, King MC, Torgerson TR, Hagin D. Freund T, et al. Among authors: renbaum p. J Clin Immunol. 2023 Jan;43(1):151-164. doi: 10.1007/s10875-022-01358-7. Epub 2022 Sep 5. J Clin Immunol. 2023. PMID: 36063261

6

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.

Yechieli M, Gulsuner S, Ben-Pazi H, Fattal A, Aran A, Kuzminsky A, Sagi L, Guttman D, Schneebaum Sender N, Gross-Tsur V, Klopstock T, Walsh T, Renbaum P, Zeligson S, Shemer Meiri L, Lev D, Shmueli D, Blumkin L, Lahad A, King MC, Levy EL, Segel R. Yechieli M, et al. Among authors: renbaum p. J Med Genet. 2022 Aug;59(8):759-767. doi: 10.1136/jmedgenet-2021-107884. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321325

7

Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing.

Zeevi DA, Backenroth D, Hakam-Spector E, Renbaum P, Mann T, Zahdeh F, Segel R, Zeligson S, Eldar-Geva T, Ben-Ami I, Ben-Yehuda A, Carmi S, Altarescu G. Zeevi DA, et al. Among authors: renbaum p. Genet Med. 2021 Jul;23(7):1334-1340. doi: 10.1038/s41436-021-01145-6. Epub 2021 Mar 26. Genet Med. 2021. PMID: 33772222 Free article.

8

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.

Lavi E, Zighan M, Abu Libdeh A, Klopstock T, Weinberg-Shukron A, Renbaum P, Levy-Lahad E, Zangen D. Lavi E, et al. Among authors: renbaum p. Pediatr Endocrinol Rev. 2020 Aug;17(4):302-307. doi: 10.17458/per.vol17.2020.lzz.xygonadalfrasiersyndromewt1mutation. Pediatr Endocrinol Rev. 2020. PMID: 32780953

9

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.

Segel R, Aran A, Gulsuner S, Nakamura H, Rosen T, Walsh T, Denda H, Zeligson S, Eto K, Beeri R, Okai H, King MC, Levy-Lahad E, Funato K, Renbaum P. Segel R, et al. Among authors: renbaum p. Neurogenetics. 2020 Oct;21(4):259-267. doi: 10.1007/s10048-020-00615-4. Epub 2020 May 27. Neurogenetics. 2020. PMID: 32462292

10

Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase.

Okai H, Ikema R, Nakamura H, Kato M, Araki M, Mizuno A, Ikeda A, Renbaum P, Segel R, Funato K. Okai H, et al. Among authors: renbaum p. FEBS Lett. 2020 Aug;594(15):2431-2439. doi: 10.1002/1873-3468.13843. Epub 2020 Jun 11. FEBS Lett. 2020. PMID: 32449190 Free article.

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