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Page 1
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
Zouaghi Y, Choudhary AM, Irshad S, Adamo M, Rehman KU, Fatima A, Shahid M, Najmi N, De Azevedo Correa F, Habibi I, Boizot A, Niederländer NJ, Ansar M, Santoni F, Acierno J, Pitteloud N. Zouaghi Y, et al. Among authors: ansar m. BMC Genomics. 2024 Aug 14;25(1):787. doi: 10.1186/s12864-024-10598-3. BMC Genomics. 2024. PMID: 39143522 Free PMC article.
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Antonarakis SE, et al. Among authors: ansar m. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: ansar m. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.
Ansar M, Javed S, Baig HMA, Quinodoz M, Ullah M, Han JH, Rahim MU, Kausar H, Calzetti G, Rivolta C. Ansar M, et al. Ophthalmic Genet. 2022 Oct;43(5):720-723. doi: 10.1080/13816810.2022.2096242. Epub 2022 Aug 10. Ophthalmic Genet. 2022. PMID: 35946463 No abstract available.
Hashimoto Encephalopathy With Status Epilepticus.
Sliwinska A, Fumuso P, Stringer B, Ansar M, Baldwin J. Sliwinska A, et al. Among authors: ansar m. Cureus. 2020 Dec 2;12(12):e11857. doi: 10.7759/cureus.11857. Cureus. 2020. PMID: 33409091 Free PMC article.
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Gabrielle PH, Faivre L, Audo I, Zanlonghi X, Dollfus H, Thiadens AAHJ, Zeitz C, Mancini GMS, Perdomo Y, Mohand-Saïd S, Lizé E, Lhussiez V, Nandrot EF, Acar N, Creuzot-Garcher C, Sahel JA, Ansar M, Thauvin-Robinet C, Duplomb L, Da Costa R. Gabrielle PH, et al. Among authors: ansar m. Sci Rep. 2021 Aug 12;11(1):16412. doi: 10.1038/s41598-021-95743-8. Sci Rep. 2021. PMID: 34385517 Free PMC article.
265 results