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1996 1
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2007 2
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2010 2
2011 7
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2013 3
2014 9
2015 5
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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: marom dr. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Among authors: marom d. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Clinical Features and Comparison of Kingella and Non-Kingella Endocarditis in Children, Israel.
Lowenthal A, Weisblum-Neuman H, Birk E, Ashkenazi-Hoffnung L, Levy I, Ben-Zvi H, Amir G, Frenkel G, Bruckheimer E, Yarden-Bilavsky H, Marom D, Shostak E, Nahum E, Dagan T, Chodick G, Scheuerman O. Lowenthal A, et al. Among authors: marom d. Emerg Infect Dis. 2021 Mar;27(3):703-709. doi: 10.3201/eid2703.203022. Emerg Infect Dis. 2021. PMID: 33622463 Free PMC article. Review.
Numerical values modulate size perception.
Avitan A, Marom D, Henik A. Avitan A, et al. Among authors: marom d. Atten Percept Psychophys. 2024 Apr 19. doi: 10.3758/s13414-024-02875-w. Online ahead of print. Atten Percept Psychophys. 2024. PMID: 38639857
Risk Factors for SARS-CoV-2 Infection and Illness in Cats and Dogs1.
Bienzle D, Rousseau J, Marom D, MacNicol J, Jacobson L, Sparling S, Prystajecky N, Fraser E, Weese JS. Bienzle D, et al. Among authors: marom d. Emerg Infect Dis. 2022 Jun;28(6):1154-1162. doi: 10.3201/eid2806.220423. Emerg Infect Dis. 2022. PMID: 35608925 Free PMC article.
Utility of genetic testing in children with leukodystrophy.
Zerem A, Libzon S, Ben Sira L, Meirson H, Hausman-Kedem M, Haviv N, Yosovich K, Mory A, Baris Feldman H, Lev D, Lerman-Sagie T, Fattal-Valevski A, Hacohen Y, Marom D. Zerem A, et al. Among authors: marom d. Eur J Paediatr Neurol. 2023 Jul;45:29-35. doi: 10.1016/j.ejpn.2023.05.008. Epub 2023 May 27. Eur J Paediatr Neurol. 2023. PMID: 37267771
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H. Rahimi MJ, et al. Among authors: marom d. Am J Hum Genet. 2022 May 5;109(5):944-952. doi: 10.1016/j.ajhg.2022.03.009. Epub 2022 Mar 30. Am J Hum Genet. 2022. PMID: 35358416 Free PMC article.
Multi-dimensional data transmission using inverse-designed silicon photonics and microcombs.
Yang KY, Shirpurkar C, White AD, Zang J, Chang L, Ashtiani F, Guidry MA, Lukin DM, Pericherla SV, Yang J, Kwon H, Lu J, Ahn GH, Van Gasse K, Jin Y, Yu SP, Briles TC, Stone JR, Carlson DR, Song H, Zou K, Zhou H, Pang K, Hao H, Trask L, Li M, Netherton A, Rechtman L, Stone JS, Skarda JL, Su L, Vercruysse D, MacLean JW, Aghaeimeibodi S, Li MJ, Miller DAB, Marom DM, Willner AE, Bowers JE, Papp SB, Delfyett PJ, Aflatouni F, Vučković J. Yang KY, et al. Among authors: marom dm. Nat Commun. 2022 Dec 21;13(1):7862. doi: 10.1038/s41467-022-35446-4. Nat Commun. 2022. PMID: 36543782 Free PMC article.
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Kaiyrzhanov R, Rocca C, Suri M, Gulieva S, Zaki MS, Henig NZ, Siquier K, Guliyeva U, Mounir SM, Marom D, Allahverdiyeva A, Megahed H, van Bokhoven H, Cantagrel V, Rad A, Pourkeramti A, Dehghani B, Shao DD, Markus-Bustani K, Sofrin-Drucker E, Orenstein N, Salayev K, Arrigoni F, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: marom d. Ann Clin Transl Neurol. 2022 Jul;9(7):1080-1089. doi: 10.1002/acn3.51602. Epub 2022 Jun 9. Ann Clin Transl Neurol. 2022. PMID: 35684946 Free PMC article.
82 results