A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. Am J Med Genet A. 2010 May;152A(5):1268-72. doi: 10.1002/ajmg.a.33319. PMID: 20425834 |
Routine cervical dilatation during elective cesarean delivery - Is it really necessary? Koifman A, Harlev A, Sheiner E, Press F, Wiznitzer A. J Matern Fetal Neonatal Med. 2009 Jul;22(7):608-11. doi: 10.1080/14767050902801728. PMID: 19350445 |
Antenatal diagnosis of idiopathic arterial calcification: a systematic review with a report of two cases. Mastrolia SA, Weintraub AY, Baron J, Sciaky-Tamir Y, Koifman A, Loverro G, Hershkovitz R. Arch Gynecol Obstet. 2015 May;291(5):977-86. doi: 10.1007/s00404-014-3567-z. Epub 2014 Dec 19. PMID: 25524533 Review. |
Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis. Sukenik-Halevy R, Sukenik S, Koifman A, Alpert Y, Hershkovitz R, Levi A, Biron-Shental T. Prenat Diagn. 2016 Dec;36(13):1185-1191. doi: 10.1002/pd.4954. Epub 2016 Nov 29. PMID: 27794172 |
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10. PMID: 28488683 Free PMC article. |
Microarray analysis in pregnancies with isolated echogenic bowel. Singer A, Maya I, Koifman A, Nasser Samra N, Baris HN, Falik-Zaccai T, Ben Shachar S, Sagi-Dain L. Early Hum Dev. 2018 Apr;119:25-28. doi: 10.1016/j.earlhumdev.2018.02.014. Epub 2018 Mar 6. PMID: 29522884 |
Chromosomal microarray findings in pregnancies with an isolated pelvic kidney. Sagi-Dain L, Singer A, Frumkin A, Shalata A, Koifman A, Segel R, Benyamini L, Rienstein S, Kahyat M, Sharony R, Maya I, Ben Shachar S. J Perinat Med. 2018 Dec 19;47(1):30-34. doi: 10.1515/jpm-2017-0321. PMID: 29813032 |
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature. Staretz-Chacham O, Noyman I, Wormser O, Abu Quider A, Hazan G, Morag I, Hadar N, Raymond K, Birk OS, Ferreira CR, Koifman A. Clin Genet. 2020 Jun;97(6):920-926. doi: 10.1111/cge.13735. Epub 2020 Mar 16. PMID: 32157688 |
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center. Michaelson-Cohen R, Salzer-Sheelo L, Sukenik-Halevy R, Koifman A, Fellner A, Reches A, Marom D, Behar DM, Sofrin-Drucker E, Zaks-Hoffer G, Weiss-Hubshmann M, Oresntein N, Kropach-Gilad N, Rhurman-Shahar N, Averbuch NS, Magal N, Bazak L, Josefberg S, Matar R, Goldberg Y, Shohat M, Basel-Salmon L, Maya I. Genet Med. 2020 Oct;22(10):1703-1709. doi: 10.1038/s41436-020-0868-4. Epub 2020 Jul 3. PMID: 32616942 |
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS. Proc Natl Acad Sci U S A. 2023 Feb 14;120(7):e2217831120. doi: 10.1073/pnas.2217831120. Epub 2023 Feb 6. PMID: 36745799 |
