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Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Fahiminiya S, Oikonomopoulos S, Rivard GE, Gandhi M, Scott P, Montpetit A, Chen SH, Park K, Vezina C, Ragoussis J, Carvalho CMB, Mitchell GA, Soucy JF, Gauthier J. Fahiminiya S, et al. Among authors: gandhi m. Haemophilia. 2023 May;29(3):921-924. doi: 10.1111/hae.14771. Epub 2023 Mar 10. Haemophilia. 2023. PMID: 36897533 Free PMC article. No abstract available.
Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Smolka M, et al. Among authors: gandhi m. Nat Biotechnol. 2024 Jan 2. doi: 10.1038/s41587-023-02024-y. Online ahead of print. Nat Biotechnol. 2024. PMID: 38168980
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.
Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Grochowski CM, et al. Among authors: gandhi m. bioRxiv [Preprint]. 2023 Oct 3:2023.10.02.560172. doi: 10.1101/2023.10.02.560172. bioRxiv. 2023. PMID: 37873367 Free PMC article. Preprint.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Prevalence of detectable HIV-DNA and -RNA in cerebrospinal fluid of youth with perinatal HIV and impaired cognition on antiretroviral therapy.
Wagner TA, Tierney C, Huang S, Nichols S, Malee KM, Montañez NA, Coletti A, Spiegel HML, Krotje C, Bone F, Wilkins M, Abuogi L, Purswani M, Bearden A, Wiznia A, Agwu A, Chadwick EG, Richman D, Gandhi M, Mehta P, Macatangay B, Spector SA, Spudich S, Persaud D, Chahroudi A; IMPAACT2015 Protocol Team. Wagner TA, et al. Among authors: gandhi m. AIDS. 2024 May 29. doi: 10.1097/QAD.0000000000003937. Online ahead of print. AIDS. 2024. PMID: 38814693
1,344 results