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Page 1
A Gain-of -Function SLC4A3 Mutation Causes Short-QT Syndrome: From Molecular Analysis to Novel Diagnostic Testing.
Giladi M, Chorin O, Piccirillo S, Prass E, Reznik Wolf H, Shamash J, Haimovich A, Barel O, Viskin D, Frydman S, Rosso R, Banai S, Viskin S, Chorin E. Giladi M, et al. Among authors: chorin o. JACC Clin Electrophysiol. 2025 Apr 22:S2405-500X(25)00238-5. doi: 10.1016/j.jacep.2025.03.027. Online ahead of print. JACC Clin Electrophysiol. 2025. PMID: 40439641
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Chorin O, Greenbaum L, Lev-Hochberg S, Feinstein-Goren N, Eliyahu A, Shani H, Pras E, Weissbach T, Bolkier Y, Heimer G, Lev D, Michelson M, Regev M, Josefsberg S, Batzir NA, Shalata A, Spiegel R, Segel R, Lobel O, Abu-Libdeh B, Shohat M, Frydman M, Hady-Cohen R, Pode-Shakked B, Rein-Rothschild A. Chorin O, et al. Orphanet J Rare Dis. 2025 Mar 18;20(1):132. doi: 10.1186/s13023-025-03598-3. Orphanet J Rare Dis. 2025. PMID: 40102980 Free PMC article.
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
Dori A, Chorin O, Ruhrman-Shahar N, Fellner A, Alon T, Reznik-Wolf H, Barel O, Fourey D, Zadok OIB, Aviv Y, Nikitin V, Ben-David M, Shavit-Stein E, Goldis R, Kaplan B, Shapiro D, Pras E, Pollak A, Meiner V, Arad M, Greenbaum L. Dori A, et al. Among authors: chorin o. Eur J Neurol. 2025 Feb;32(2):e70057. doi: 10.1111/ene.70057. Eur J Neurol. 2025. PMID: 39878313 Free PMC article.
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M, Brischoux-Boucher E, Pyle LC, Mottet N, Auber-Lenoir M, Cattin J, Dahlen E, Cabrol C, Arbez-Gindre F, Attié-Bitach T, Boute O, Devisme L, Trost D, Boughalem A, Chitayat D, Prasov L, Chorin O, Rein-Rothschild A, Kassif E, Weissbach T, Hendon LG, Adam MP, Quelin C, Jaillard S, Mary L, Aukema SM, Heijligers M, de Die-Smulders C, Stegmann S, Badalato L, Ben-Yehuda A, Beneteau C, Forey PL, Kuentz P, Piard J. Favier M, et al. Among authors: chorin o. Prenat Diagn. 2024 Dec;44(13):1647-1658. doi: 10.1002/pd.6700. Epub 2024 Nov 14. Prenat Diagn. 2024. PMID: 39542847 Free PMC article.
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Among authors: chorin o. Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. Genet Med. 2024. PMID: 39036895 Free PMC article.
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting.
Lempel N, Shelly S, Chorin O, Rock R, Eliyahu A, Finezilber Y, Poran H, Feinstein-Goren N, Segev M, Reznik-Wolf H, Barel O, Orion D, Anis S, Regev M, Yonath H, Dominissini D, Blatt I, Hassin-Baer S, Dori A, Pras E, Greenbaum L. Lempel N, et al. Among authors: chorin o. J Neurol Sci. 2024 Aug 15;463:123074. doi: 10.1016/j.jns.2024.123074. Epub 2024 May 31. J Neurol Sci. 2024. PMID: 38968664
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin … See abstract for full author list ➔ Lesmann H, et al. Among authors: chorin o. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: chorin o. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
28 results