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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.
Am J Hum Genet. 2019.
PMID: 31495489
Free PMC article.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P.
Bertoli-Avella AM, et al. Among authors: ordonez herrera n.
Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19.
Genet Med. 2021.
PMID: 33875846
Free PMC article.
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Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM.
Alawbathani S, et al. Among authors: ordonez herrera n.
Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6.
Clin Genet. 2022.
PMID: 34708404
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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B.
Moreno Traspas R, et al. Among authors: ordonez herrera n.
Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21.
Nat Genet. 2022.
PMID: 35864190
Free PMC article.
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The Transcription Factor COL12 Is a Substrate of the COP1/SPA E3 Ligase and Regulates Flowering Time and Plant Architecture.
Ordoñez-Herrera N, Trimborn L, Menje M, Henschel M, Robers L, Kaufholdt D, Hänsch R, Adrian J, Ponnu J, Hoecker U.
Ordoñez-Herrera N, et al.
Plant Physiol. 2018 Feb;176(2):1327-1340. doi: 10.1104/pp.17.01207. Epub 2017 Nov 29.
Plant Physiol. 2018.
PMID: 29187570
Free PMC article.
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A cop1 spa mutant deficient in COP1 and SPA proteins reveals partial co-action of COP1 and SPA during Arabidopsis post-embryonic development and photomorphogenesis.
Ordoñez-Herrera N, Fackendahl P, Yu X, Schaefer S, Koncz C, Hoecker U.
Ordoñez-Herrera N, et al.
Mol Plant. 2015 Mar;8(3):479-81. doi: 10.1016/j.molp.2014.11.026. Epub 2014 Dec 31.
Mol Plant. 2015.
PMID: 25667004
Free article.
No abstract available.
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