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Page 1
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Among authors: almanjomi f. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H. McQuaid ME, et al. Among authors: almanjomi f. JCI Insight. 2022 May 23;7(10):e155648. doi: 10.1172/jci.insight.155648. JCI Insight. 2022. PMID: 35603789 Free PMC article.
Clinical characteristics and treatment outcome of childhood acute lymphoblastic leukemia in Saudi Arabia: a multi-institutional retrospective national collaborative study.
Al-Sudairy R, Al-Nasser A, Alsultan A, Al Ahmari A, Abosoudah I, Al-Hayek R, Al-Harbi T, Al-Manjomi F, Al-Harbi M, Al-Ghamdi H, Al-Shahrani M, Belgaumi AF. Al-Sudairy R, et al. Pediatr Blood Cancer. 2014 Jan;61(1):74-80. doi: 10.1002/pbc.24584. Epub 2013 Aug 12. Pediatr Blood Cancer. 2014. PMID: 23940019
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G. Côte M, et al. J Clin Invest. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732. Epub 2009 Nov 2. J Clin Invest. 2009. PMID: 19884660 Free PMC article.
Human leucocyte antigen-matched related haematopoietic stem cell transplantation using low-dose cyclophosphamide, fludarabine and thymoglobulin in children with severe aplastic anaemia.
Alsultan A, Abujoub R, Alsudairy R, Memon S, Jarrar MS, Alafghani S, Aldaama S, Ballourah W, Almanjomi F, Essa MF. Alsultan A, et al. Among authors: almanjomi f. Br J Haematol. 2023 Oct;203(2):255-263. doi: 10.1111/bjh.19004. Epub 2023 Jul 25. Br J Haematol. 2023. PMID: 37491781
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.
Hoyos-Bachiloglu R, Chou J, Sodroski CN, Beano A, Bainter W, Angelova M, Al Idrissi E, Habazi MK, Alghamdi HA, Almanjomi F, Al Shehri M, Elsidig N, Alaa Eldin M, Knipe DM, AlZahrani M, Geha RS. Hoyos-Bachiloglu R, et al. Among authors: almanjomi f. J Clin Invest. 2017 Dec 1;127(12):4415-4420. doi: 10.1172/JCI93486. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106381 Free PMC article. Clinical Trial.
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Grandin V, Sepulveda FE, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, Almanjomi F, Al-Ghonaium A, K Habazi M, A Alghamdi H, Picard C, Bole-Feysot C, Nitschke P, Ménasché G, de Saint Basile G. Grandin V, et al. Among authors: almanjomi f. Hum Mutat. 2017 Oct;38(10):1355-1359. doi: 10.1002/humu.23274. Epub 2017 Jun 19. Hum Mutat. 2017. PMID: 28585352