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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2008 3
2009 3
2011 2
2012 1
2013 3
2014 5
2015 2
2016 9
2017 5
2018 7
2019 16
2020 14
2021 23
2022 25
2023 12
2024 4

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113 results

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Page 1
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: barel o. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Erdinc D, et al. Among authors: barel o. EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4. EMBO Mol Med. 2023. PMID: 37013609 Free PMC article.
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: barel o. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
Microbiota-dependent and -independent postnatal development of salivary immunity.
Zubeidat K, Jaber Y, Saba Y, Barel O, Naamneh R, Netanely Y, Horev Y, Eli-Berchoer L, Shhadeh A, Yosef O, Arbib E, Betser-Cohen G, Nadler C, Shapiro H, Elinav E, Aframian DJ, Wilensky A, Hovav AH. Zubeidat K, et al. Among authors: barel o. Cell Rep. 2023 Jan 31;42(1):111981. doi: 10.1016/j.celrep.2022.111981. Epub 2023 Jan 7. Cell Rep. 2023. PMID: 36640306 Free article.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: barel o. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.
Sultan M, Adawi M, Kol N, McCourt B, Adawi I, Baram L, Tal N, Werner L, Lev A, Snapper SB, Barel O, Konnikova L, Somech R, Shouval DS. Sultan M, et al. Among authors: barel o. Front Immunol. 2022 Nov 18;13:1041315. doi: 10.3389/fimmu.2022.1041315. eCollection 2022. Front Immunol. 2022. PMID: 36466854 Free PMC article.
[GASTRIC CANCER IN PREGNANCY].
Shemer O, Stanleigh J, Pansky M, Barel O. Shemer O, et al. Among authors: barel o. Harefuah. 2022 Dec;161(12):747-750. Harefuah. 2022. PMID: 36916113 Hebrew.
Langerhans cells shape postnatal oral homeostasis in a mechanical-force-dependent but microbiota and IL17-independent manner.
Jaber Y, Netanely Y, Naamneh R, Saar O, Zubeidat K, Saba Y, Georgiev O, Kles P, Barel O, Horev Y, Yosef O, Eli-Berchoer L, Nadler C, Betser-Cohen G, Shapiro H, Elinav E, Wilensky A, Hovav AH. Jaber Y, et al. Among authors: barel o. Nat Commun. 2023 Sep 12;14(1):5628. doi: 10.1038/s41467-023-41409-0. Nat Commun. 2023. PMID: 37699897 Free PMC article.
Development and Function of γδT Cells in the Oral Mucosa.
Hovav AH, Wilharm A, Barel O, Prinz I. Hovav AH, et al. Among authors: barel o. J Dent Res. 2020 May;99(5):498-505. doi: 10.1177/0022034520908839. Epub 2020 Feb 24. J Dent Res. 2020. PMID: 32091949 Review.
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y, Shlomovitz O, Atias-Varon D, Haskin O, Ben-Shalom E, Shasha Lavsky H, Volovelsky O, Mane S, Ben-Ruby D, Chowers G, Skorecki K, Borovitz Y, Kagan M, Mor N, Khavkin Y, Tzvi-Behr S, Pollack S, Toder MP, Geylis M, Schnapp A, Becker-Cohen R, Weissman I, Schreiber R, Davidovits M, Frishberg Y, Magen D, Barel O, Vivante A. Ben-Moshe Y, et al. Among authors: barel o. Kidney Int Rep. 2023 Jul 31;8(10):2126-2135. doi: 10.1016/j.ekir.2023.07.019. eCollection 2023 Oct. Kidney Int Rep. 2023. PMID: 37850020 Free PMC article.
113 results