Recent Publications

  1. Azhar Baig, H. M., M. Ansar, A. Iqbal, M. A. Naeem, M. Quinodoz, G. Calzetti, M. Iqbal, and C. Rivolta. « Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness. » Ophthalmic Res  (Nov 15 2021).
  2. Mattioli, F., H. Darvish, S. A. Paracha, A. Tafakhori, S. G. Firouzabadi, M. Chapi, H. M. A. Baig, A. Reymond, S. E. Antonarakis, and M. Ansar. « Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder. » NPJ Genom Med 6, no. 1 (Nov 11 2021): 94. https://dx.doi.org/10.1038/s41525-021-00255-z.
  3. Serpieri, V., D’Abrusco, F., Dempsey, J. C., Cheng, Y. H. H., Arrigoni, F., Baker, J., Battini, R., Bertini, E., Borgatti, R., Christman, A. K., Cynthia Curry, C., Stefano D’Arrigo, S., Joel Fluss, J., Michael Freilinger, M., Gana, S., Ishak, G. E., Leuzzi, V., Loucks, H., Manti, F., Mendelsohn, N., Merlini, L., Miller, C. V., Ansar, M., Nuovo, S., Romaniello, R., Schmidt, W. M., Signorini, S., Siliquini, S., Szczaluba, K., Vasco, G., Wilson, M., Zanni, G., Uni. of Washington Center for Mendelian Genomics, Boltshauser, E., Doherty, D., Valente, E. M. “SUFU haploinsufficiency causes a recognizable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.” J Med Genet. In press (Oct 21 2021). https://dx.doi.org/10.1136/jmedgenet-2021-108114
  4. Gabrielle, P. H., Faivre, L., Audo, I., Zanlonghi, X., Dollfus, H., Thiadens, A. A. H. J., Zeitz, C., Mancini, G. M. S., Perdomo, Y., Mohand-Saïd, M., Lizé, E., Lhussiez, V., Nandrot, E. F., Acar, N., Creuzot-Garcher, C., Sahel, J. A., Ansar, M., Thauvin-Robinet, C., Duplomb, L., Da Costa, R. “Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy” Sci Rep 11, no. 1 (Aug 12 2021): 16412. https://dx.doi.org/10.1038/s41598-021-95743-8.
  5. Antonarakis, S. E., Ales, H., Rapti, M., Rademaker, J,. Meylan, J., Menzel, O., Iwaszkiewicz, J., Zoete, V., Ansar  M., Borel, C., Kuˇzelov´a, K., Santoni, F. A., Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2. Hum Mol Genet In press (Mar 9 2021). https://dx.doi.org/10.1093/hmg/ddab026
  6. Polla D. L., Fard M. A. F., Tabatabaei Z., Habibzadeh P., Levchenko O. A., Nikuei P., Periklis Makrythanasis P., Janneke H. M., Hoeijmakers S., Shahzad M., Fatima F., Fatima  N., Kaat L. D., Bruggenwirth H. T.,  Fleming L. R., Condie J., Ploski R., Pollak A., Pilch J., Nina A. Demina N. A., Chukhrova A. L., Sergeeva V. S., Venselaar H., Masri A. T., Hamamy H., Santoni F. A., Linda K., Ahmed Z.M, Kasri N. N., de Brouwer A., Makrythanasis P, Ansar M., Riazuddin S, Riazuddin S., Silawi M., Ruggeri G., Pirozzi F., Eftekhar E., Sheshdeh A. T., Bahramjahan S., Mirzaa G. M., Lavrov A. V., Antonarakis S. E., Faghihi M. A., van Bokhoven H., Biallelic variants  in TMEM222, encoding a neuronal vesicular transmembrane protein, cause a new autosomal   recessive neurodevelopmental disorder. Genet Med 23, no. 7 (Jul 2021): 1246-54. https://dx.doi.org/10.1038/s41436-021-01133-w
  7. Poulter, J. A., M. S. C. Gravett, R. L. Taylor, K. Fujinami, J. De Zaeytijd, J. Bellingham, A. U. Rehman, T. Hayashi, M. Kondo, A. Rehman, M. Ansar, D. Donnelly, C. Toomes, M. Ali, Genomics England Research Consortium Uk Inherited Retinal Disease Consortium, E. De Baere, B. P. Leroy, N. P. Davies, R. H. Henderson, A. R. Webster, C. Rivolta, O. A. Mahroo, G. Arno, G. C. M. Black, M. McKibbin, S. A. Harris, K. N. Khan, and C. F. Inglehearn. « New variants and in silico analyses in GRK1 associated oguchi disease. » Hum Mutat  (Nov 30 2020). https://dx.doi.org/10.1002/humu.24140.
  8. Manole, A., S. Efthymiou, E. O’Connor, M. I. Mendes, M. Jennings, R. Maroofian, I. Davagnanam, K. Mankad, M. R. Lopez, V. Salpietro, R. Harripaul, L. Badalato, J. Walia, C. S. Francklyn, A. Athanasiou-Fragkouli, R. Sullivan, S. Desai, K. Baranano, F. Zafar, N. Rana, M. Ilyas, A. Horga, M. Kara, F. Mattioli, A. Goldenberg, H. Griffin, A. Piton, L. B. Henderson, B. Kara, A. D. Aslanger, J. Raaphorst, R. Pfundt, R. Portier, M. Shinawi, A. Kirby, K. M. Christensen, L. Wang, R. O. Rosti, S. A. Paracha, M. T. Sarwar, D. Jenkins, Synaps Study Group, J. Ahmed, F. A. Santoni, E. Ranza, J. Iwaszkiewicz, C. Cytrynbaum, R. Weksberg, I. M. Wentzensen, M. J. Guillen Sacoto, Y. Si, A. Telegrafi, M. V. Andrews, D. Baldridge, H. Gabriel, J. Mohr, B. Oehl-Jaschkowitz, S. Debard, B. Senger, F. Fischer, C. van Ravenwaaij, A. J. M. Fock, S. J. C. Stevens, J. Bahler, A. Nasar, J. F. Mantovani, A. Manzur, A. Sarkozy, D. E. C. Smith, G. S. Salomons, Z. M. Ahmed, S. Riazuddin, S. Riazuddin, M. A. Usmani, A. Seibt, M. Ansar, S. E. Antonarakis, J. B. Vincent, M. Ayub, M. Grimmel, A. M. Jelsig, T. D. Hjortshoj, H. G. Karstensen, M. Hummel, T. B. Haack, Y. Jamshidi, F. Distelmaier, R. Horvath, J. G. Gleeson, H. Becker, J. L. Mandel, D. A. Koolen, and H. Houlden. « De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects. » Am J Hum Genet 107, no. 2 (Aug 6 2020): 311-24. https://dx.doi.org/10.1016/j.ajhg.2020.06.016.
  9. Lhussiez, V., E. Dubus, Q. Cesar, N. Acar, E. F. Nandrot, M. Simonutti, I. Audo, E. Lize, S. Nguyen, A. Geissler, A. Bouchot, M. Ansar, S. Picaud, C. Thauvin-Robinet, L. Olivier-Faivre, L. Duplomb, and R. Da Costa. « Cohen syndrome-associated cataract is explained by VPS13B functions in lens homeostasis and is modified by additional genetic factors. » Invest Ophthalmol Vis Sci 61, no. 11 (Sep 1 2020): 18. https://dx.doi.org/10.1167/iovs.61.11.18.
  10. Ansar, M., F. Ebstein, H. Ozkoc, S. A. Paracha, J. Iwaszkiewicz, M. Gesemann, V. Zoete, E. Ranza, F. A. Santoni, M. T. Sarwar, J. Ahmed, E. Kruger, R. Bachmann-Gagescu, and S. E. Antonarakis. « Biallelic variants in PSMB1 encoding the proteasome subunit beta6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. » Hum Mol Genet 29, no. 7 (May 8 2020): 1132-43. https://dx.doi.org/10.1093/hmg/ddaa032.
  11. Ansar, M.*, E. Ranza, M. Shetty, S. A. Paracha, M. Azam, I. Kern, J. Iwaszkiewicz, O. Farooq, C. J. Pournaras, A. Malcles, M. Kecik, C. Rivolta, W. Muzaffar, A. Qurban, L. Ali, Y. Aggoun, F. A. Santoni, P. Makrythanasis, J. Ahmed, R. Qamar, M. T. Sarwar, L. K. Henry, and S. E. Antonarakis*. « Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. » Hum Mol Genet 29, no. 4 (Mar 13 2020): 618-23. https://dx.doi.org/10.1093/hmg/ddz303. *corresponding authors
  12. Ansar, M., H. L. Chung, A. Al-Otaibi, M. N. Elagabani, T. A. Ravenscroft, S. A. Paracha, R. Scholz, T. Abdel Magid, M. T. Sarwar, S. F. Shah, A. A. Qaisar, P. Makrythanasis, P. C. Marcogliese, E. J. Kamsteeg, E. Falconnet, E. Ranza, F. A. Santoni, H. Aldhalaan, A. Al-Asmari, E. A. Faqeih, J. Ahmed, H. C. Kornau, H. J. Bellen, and S. E. Antonarakis. « Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay, and short stature. » Am J Hum Genet 105, no. 5 (Nov 7 2019): 907-20. https://dx.doi.org/10.1016/j.ajhg.2019.09.013.
  13. Ansar, M., F. Ullah, S. A. Paracha, D. J. Adams, A. Lai, L. Pais, J. Iwaszkiewicz, F. Millan, M. T. Sarwar, Z. Agha, S. F. Shah, A. A. Qaisar, E. Falconnet, V. Zoete, E. Ranza, P. Makrythanasis, F. A. Santoni, J. Ahmed, N. Katsanis, C. Walsh, E. E. Davis, and S. E. Antonarakis. « Bi-allelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features. » Am J Hum Genet 104, no. 6 (Jun 6 2019): 1073-87. https://dx.doi.org/10.1016/j.ajhg.2019.04.002
  14. Ansar, M., S. A. Paracha, A. Serretti, M. T. Sarwar, J. Khan, E. Ranza, E. Falconnet, J. Iwaszkiewicz, S. F. Shah, A. A. Qaisar, F. A. Santoni, V. Zoete, A. Megarbane, J. Ahmed, R. Colombo, P. Makrythanasis, and S. E. Antonarakis. « Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. » Hum Mol Genet 28, no. 6 (Mar 15 2019): 972-79. https://dx.doi.org/10.1093/hmg/ddy406.
  15. Ansar, M., H. L. Chung, R. L. Taylor, A. Nazir, S. Imtiaz, M. T. Sarwar, A. Manousopoulou, P. Makrythanasis, S. Saeed, E. Falconnet, M. Guipponi, C. J. Pournaras, M. A. Ansari, E. Ranza, F. A. Santoni, J. Ahmed, I. Shah, K. Gul, G. C. Black, H. J. Bellen, and S. E. Antonarakis. « Bi-allelic loss-of-function variants in DNMBP cause infantile cataracts. » Am J Hum Genet 103, no. 4 (Oct 4 2018): 568-78. https://dx.doi.org/10.1016/j.ajhg.2018.09.004.
  16. Ansar, M., H. Chung, Y. M. Waryah, P. Makrythanasis, E. Falconnet, A. R. Rao, M. Guipponi, A. K. Narsani, R. Fingerhut, F. A. Santoni, E. Ranza, A. M. Waryah, H. J. Bellen, and S. E. Antonarakis. « Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. » Hum Mol Genet 27, no. 15 (Aug 1 2018): 2703-11. https://dx.doi.org/10.1093/hmg/ddy180.
  17. Ansar, M., S. Riazuddin, M. T. Sarwar, P. Makrythanasis, S. A. Paracha, Z. Iqbal, J. Khan, M. Z. Assir, M. Hussain, A. Razzaq, D. L. Polla, A. S. Taj, A. Holmgren, N. Batool, D. Misceo, J. Iwaszkiewicz, A. P. M. de Brouwer, M. Guipponi, S. Hanquinet, V. Zoete, F. A. Santoni, E. Frengen, J. Ahmed, S. Riazuddin, H. van Bokhoven, and S. E. Antonarakis. « Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. » Genet Med 20, no. 7 (Jul 2018): 778-84. https://dx.doi.org/10.1038/gim.2017.113.
  18. Riazuddin, S., M. Hussain, A. Razzaq, Z. Iqbal, M. Shahzad, D. L. Polla, Y. Song, E. van Beusekom, A. A. Khan, L. Tomas-Roca, M. Rashid, M. Y. Zahoor, W. M. Wissink-Lindhout, M. A. R. Basra, M. Ansar, Z. Agha, K. van Heeswijk, F. Rasheed, M. Van de Vorst, J. A. Veltman, C. Gilissen, J. Akram, T. Kleefstra, M. Z. Assir, Uk10K, D. Grozeva, K. Carss, F. L. Raymond, T. D. O’Connor, S. A. Riazuddin, S. N. Khan, Z. M. Ahmed, A. P. M. de Brouwer, H. van Bokhoven, and S. Riazuddin. « Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. » Mol Psychiatry 22, no. 11 (Nov 2017): 1604-14. https://dx.doi.org/10.1038/mp.2016.109.
  19. Pedurupillay, C. R., E. C. Landsend, M. D. Vigeland, M. Ansar, E. Frengen, D. Misceo, and P. Stromme. « Segregation of incomplete achromatopsia and alopecia due to PDE6H and LPAR6 variants in a consanguineous family from Pakistan. » Genes (Basel) 7, no. 8 (Jul 27 2016). https://dx.doi.org/10.3390/genes7080041.
  20. Makrythanasis, P., M. Guipponi, F. A. Santoni, M. Zaki, M. Y. Issa, M. Ansar, H. Hamamy, and S. E. Antonarakis. « Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree. » Hum Genomics 10, no. 1 (Jul 16 2016): 26. https://dx.doi.org/10.1186/s40246-016-0082-2.
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