Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

25 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. Baker EK, et al. Among authors: chorin o. Am J Med Genet A. 2022 Nov;188(11):3262-3277. doi: 10.1002/ajmg.a.62946. Epub 2022 Aug 15. Am J Med Genet A. 2022. PMID: 36209351
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. Among authors: chorin o. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
Merdler-Rabinowicz R, Pode-Shakked B, Vivante A, Lahav E, Kagan M, Chorin O, Somech R, Raas-Rothschild A. Merdler-Rabinowicz R, et al. Among authors: chorin o. Pediatr Nephrol. 2021 Dec;36(12):4009-4012. doi: 10.1007/s00467-021-05216-3. Epub 2021 Sep 27. Pediatr Nephrol. 2021. PMID: 34570271
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Pode-Shakked B, Barel O, Singer A, Regev M, Poran H, Eliyahu A, Finezilber Y, Segev M, Berkenstadt M, Yonath H, Reznik-Wolf H, Gazit Y, Chorin O, Heimer G, Gabis LV, Tzadok M, Nissenkorn A, Bar-Yosef O, Zohar-Dayan E, Ben-Zeev B, Mor N, Kol N, Nayshool O, Shimshoviz N, Bar-Joseph I, Marek-Yagel D, Javasky E, Einy R, Gal M, Grinshpun-Cohen J, Shohat M, Dominissini D, Raas-Rothschild A, Rechavi G, Pras E, Greenbaum L. Pode-Shakked B, et al. Among authors: chorin o. Sci Rep. 2021 Sep 27;11(1):19099. doi: 10.1038/s41598-021-98646-w. Sci Rep. 2021. PMID: 34580403 Free PMC article.
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
Chorin O, Chowers G, Agbariah R, Karklinsky S, Barel O, Bar-Joseph I, Reznik-Wolf H, Shamash J, Pode-Shakked B, Jacobson JM, Huna-Baron R, Redler Y, Tirosh I, Vivante A, Raas-Rothschild A. Chorin O, et al. Eur J Med Genet. 2022 Jan;65(1):104383. doi: 10.1016/j.ejmg.2021.104383. Epub 2021 Nov 16. Eur J Med Genet. 2022. PMID: 34798323
Vici syndrome in Israel: Clinical and molecular insights.
Chorin O, Hirsch Y, Rock R, Salzer Sheelo L, Goldberg Y, Mandel H, Hershkovitz T, Fleischer N, Greenbaum L, Katz U, Barel O, Hamed N, Ben-Zeev B, Greenberger S, Nasser Samra N, Stern Zimmer M, Raas-Rothschild A, Pode-Shakked B. Chorin O, et al. Front Genet. 2022 Sep 20;13:991721. doi: 10.3389/fgene.2022.991721. eCollection 2022. Front Genet. 2022. PMID: 36204321 Free PMC article.
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Kagan M, Semo-Oz R, Ben Moshe Y, Atias-Varon D, Tirosh I, Stern-Zimmer M, Eliyahu A, Raas-Rothschild A, Bivas M, Shlomovitz O, Chorin O, Rock R, Tzadok M, Ben-Zeev B, Heimer G, Bolkier Y, Gruber N, Dagan A, Bar Aluma BE, Pessach IM, Rechavi G, Barel O, Pode-Shakked B, Anikster Y, Vivante A. Kagan M, et al. Among authors: chorin o. Front Genet. 2023 Jan 9;13:1018062. doi: 10.3389/fgene.2022.1018062. eCollection 2022. Front Genet. 2023. PMID: 36699461 Free PMC article.
Congenital hypotonia: systematic approach for prenatal detection.
Weissbach T, Hausman-Kedem M, Yanay Z, Meyer R, Bar-Yosef O, Leibovitch L, Berkenstadt M, Chorin O, Shani H, Massarwa A, Achiron R, Weisz B, Sharon R, Mazaki-Tovi S, Kassif E. Weissbach T, et al. Among authors: chorin o. Ultrasound Obstet Gynecol. 2023 Jul;62(1):94-105. doi: 10.1002/uog.26178. Ultrasound Obstet Gynecol. 2023. PMID: 36779229 Free article.
25 results