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Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.
Poleg T, Eskin-Schwartz M, Proskorovski-Ohayon R, Aminov I, Dolgin V, Agam N, Jean M, Safran A, Freund O, Levitas A, Konstantino Y, Birk OS, Westreich R, Haim M. Poleg T, et al. Among authors: agam n. J Cardiovasc Transl Res. 2023 Dec;16(6):1325-1331. doi: 10.1007/s12265-023-10461-y. Epub 2023 Nov 16. J Cardiovasc Transl Res. 2023. PMID: 37973666
PSMC1 variant causes a novel neurological syndrome.
Aharoni S, Proskorovski-Ohayon R, Krishnan RK, Yogev Y, Wormser O, Hadar N, Bakhrat A, Alshafee I, Gombosh M, Agam N, Gradstein L, Shorer Z, Zarivach R, Eskin-Schwartz M, Abdu U, Birk OS. Aharoni S, et al. Among authors: agam n. Clin Genet. 2022 Oct;102(4):324-332. doi: 10.1111/cge.14195. Epub 2022 Aug 3. Clin Genet. 2022. PMID: 35861243 Free PMC article.
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS. Safran A, et al. Among authors: agam n. J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9. J Inherit Metab Dis. 2023. PMID: 36695547
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.
Halperin D, Agam N, Hallak M, Feinstein M, Drabkin M, Yogev Y, Wormser O, Shavit E, Gradstein L, Shelef I, Mijalovsky A, Flusser H, Birk OS. Halperin D, et al. Among authors: agam n. Clin Genet. 2022 Aug;102(2):123-129. doi: 10.1111/cge.14143. Epub 2022 May 5. Clin Genet. 2022. PMID: 35443069 Free PMC article.
[SURGICAL PALLIATION FOR PANCREATIC CANCER].
Ashbell I, Agam N, Chocron Y, Perry ZH, Avital I, Netz U. Ashbell I, et al. Among authors: agam n. Harefuah. 2022 Jun;161(6):383-389. Harefuah. 2022. PMID: 35734796 Review. Hebrew.
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Hadar N, Dolgin V, Oustinov K, Yogev Y, Poleg T, Safran A, Freund O, Agam N, Jean MM, Proskorovski-Ohayon R, Wormser O, Drabkin M, Halperin D, Eskin-Schwartz M, Narkis G, Sued-Hendrickson S, Aminov I, Gombosh M, Aharoni S, Birk OS. Hadar N, et al. Among authors: agam n. Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12. Hum Genet. 2024. PMID: 38607411
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