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Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
Mol Genet Genomics. 2022 Jul;297(4):925-933. doi: 10.1007/s00438-022-01898-y. Epub 2022 Apr 30.
Mol Genet Genomics. 2022.
PMID: 35488049
Essential Role of BRCA2 in Ovarian Development and Function.
Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D.
Weinberg-Shukron A, et al. Among authors: lobel o.
N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024.
N Engl J Med. 2018.
PMID: 30207912
Free PMC article.
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Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Kamal L, Pierce SB, Canavati C, Rayyan AA, Jaraysa T, Lobel O, Lolas S, Norquist BM, Rabie G, Zahdeh F, Levy-Lahad E, King MC, Kanaan MN.
Kamal L, et al. Among authors: lobel o.
Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5):a005652. doi: 10.1101/mcs.a005652. Print 2020 Oct.
Cold Spring Harb Mol Case Stud. 2020.
PMID: 33028645
Free PMC article.
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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: lobel o.
Eur J Endocrinol. 2023 Sep 1;189(3):K7-K14. doi: 10.1093/ejendo/lvad127.
Eur J Endocrinol. 2023.
PMID: 37740949
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Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.
Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, Dahary D, Abu-Rayyan A, Kanaan M, Levy-Lahad E, Bercovich D, Zangen D.
Tenenbaum-Rakover Y, et al. Among authors: lobel o.
J Med Genet. 2015 Jun;52(6):391-9. doi: 10.1136/jmedgenet-2014-102921. Epub 2015 Apr 14.
J Med Genet. 2015.
PMID: 25873734
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