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Page 1
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Beetz C, Westenberger A, Al-Ali R, Ameziane N, Alhashmi N, Boustany RM, Al Mutairi F, Alfadhel M, Al-Hassnan Z, AlSayed M, Kandaswamy KK, Paknia O, Skrahina V, Rolfs A, Bauer P. Beetz C, et al. Among authors: boustany rm. Mov Disord. 2021 Apr;36(4):1029-1031. doi: 10.1002/mds.28452. Epub 2021 Jan 12. Mov Disord. 2021. PMID: 33433017 Free PMC article. No abstract available.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. Rad A, et al. Among authors: boustany rm. J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28. J Med Genet. 2019. PMID: 30487245 Free PMC article.
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Roosing S, et al. Among authors: boustany rm. Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602. Elife. 2015. PMID: 26026149 Free PMC article.
Systems biology, bioinformatics, and biomarkers in neuropsychiatry.
Alawieh A, Zaraket FA, Li JL, Mondello S, Nokkari A, Razafsha M, Fadlallah B, Boustany RM, Kobeissy FH. Alawieh A, et al. Among authors: boustany rm. Front Neurosci. 2012 Dec 24;6:187. doi: 10.3389/fnins.2012.00187. eCollection 2012. Front Neurosci. 2012. PMID: 23269912 Free PMC article.
Biomarkers in psychiatry: how close are we?
Kobeissy F, Alawieh A, Mondello S, Boustany RM, Gold MS. Kobeissy F, et al. Among authors: boustany rm. Front Psychiatry. 2013 Jan 7;3:114. doi: 10.3389/fpsyt.2012.00114. eCollection 2012. Front Psychiatry. 2013. PMID: 23316174 Free PMC article. No abstract available.
Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients.
Makoukji J, Raad M, Genadry K, El-Sitt S, Makhoul NJ, Saad Aldin E, Nohra E, Jabbour M, Sangaralingam A, Chelala C, Habib RH, Boulos F, Tfayli A, Boustany RM. Makoukji J, et al. Among authors: boustany rm. Front Oncol. 2015 Oct 12;5:215. doi: 10.3389/fonc.2015.00215. eCollection 2015. Front Oncol. 2015. PMID: 26528430 Free PMC article.
99 results