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Lior Cohen

20082025

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  • Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

    Karimi, K., Lichtenstein, Y., Reilly, J., McConkey, H., Relator, R., Levy, M. A., Kerkhof, J., Bouman, A., Symonds, J. D., Ghoumid, J., Smol, T., Clarkson, K., Drazba, K., Louie, R. J., Miranda, V., McCann, C., Motta, J., Lancaster, E., Sallevelt, S. & Sidlow, R. & 28 others, Morrison, J., Hannibal, M., O'Shea, J., Marin, V., Prasad, C., Patel, C., Raskin, S., Maria-Noelia, S. M., Diaz de Bustamante, A., Marom, D., Barkan, T., Keren, B., Poirsier, C., Cohen, L., Colin, E., Gorman, K., Gallant, E., Menke, L. A., Valenzuela Palafoll, I., Hauser, N., Wentzensen, I. M., Rankin, J., Turnpenny, P. D., Campeau, P. M., Balci, T. B., Tedder, M. L., Sadikovic, B. & Weiss, K., 6 Feb 2025, In: American Journal of Human Genetics. 112, 2, p. 414-427 14 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    5 Scopus citations

  • Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

    Peng, X., Jia, X., Wang, H., Chen, J., Zhang, X., Tan, S., Duan, X., Qiu, C., Hu, M., Hou, H., Parenti, I., Kuechler, A., Kaiser, F. J., Renck, A., Caylor, R., Skinner, C., Peeden, J., Cogne, B., Isidor, B. & Mercier, S. & 29 others, Nicolas, G., Guerrot, A. M., Faletra, F., Musante, L., Cohen, L., Bergant, G., Čuturilo, G., Peterlin, B., Seeley, A., Bachman, K., Martinez-Agosto, J. A., van Ravenswaaij-Arts, C., Bos, D., Kim, K. H., Bartolomaeus, T., Schmederer, Z., Jamra, R. A., Aref-Eshghi, E., Zhao, W., Zou, Y., Hu, Z., Pan, Q., Li, F., Chen, G., Li, J., Hu, Z., Xia, K., Tan, J. & Guo, H., 17 Nov 2025, In: Journal of Clinical Investigation. 135, 22, e191729.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1 Scopus citations

  • National Rapid Genome Sequencing in Neonatal Intensive Care

    Marom, D., Mory, A., Reytan-Miron, S., Amir, Y., Kurolap, A., Cohen, J. G., Morhi, Y., Smolkin, T., Cohen, L., Zangen, S., Shalata, A., Riskin, A., Peleg, A., Lavie-Nevo, K., Mandel, D., Chervinsky, E., Fisch, C. F., Fleisher Sheffer, V., Falik-Zaccai, T. C. & Rips, J. & 28 others, Shlomai, N. O., Friedman, S. E., Shporen, C. H., Ben-Yehoshua, S. J., Simmonds, A., Yaacobi, R. G., Bauer-Rusek, S., Omari, H., Weiss, K., Hochwald, O., Koifman, A., Globus, O., Batzir, N. A., Yaron, N., Segel, R., Morag, I., Reish, O., Eliyahu, A., Leibovitch, L., Schwartz, M. E., Abramsky, R., Hochberg, A., Oron, A., Banne, E., Portnov, I., Samra, N. N., Singer, A. & Baris Feldman, H., 22 Feb 2024, In: JAMA Network Open. 7, 2, e240146.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    25 Scopus citations

  • National Rapid Genome Sequencing in Neonatal Intensive Care

    Marom, D., Mory, A., Reytan-Miron, S., Amir, Y., Kurolap, A., Cohen, J. G., Morhi, Y., Smolkin, T., Cohen, L., Zangen, S., Shalata, A., Riskin, A., Peleg, A., Lavie-Nevo, K., Mandel, D., Chervinsky, E., Fisch, C. F., Sheffer, V. F., Falik-Zaccai, T. C. & Rips, J. & 28 others, Shlomai, N. O., Friedman, S. E., Shporen, C. H., Ben-Yehoshua, S. J., Simmonds, A., Yaacobi, R. G., Bauer-Rusek, S., Omari, H., Weiss, K., Hochwald, O., Koifman, A., Globus, O., Batzir, N. A., Yaron, N., Segel, R., Morag, I., Reish, O., Eliyahu, A., Leibovitch, L., Schwartz, M. E., Abramsky, R., Hochberg, A., Oron, A., Banne, E., Portnov, I., Samra, N. N., Singer, A. & Feldman, H. B., 1 Aug 2024, In: Obstetrical and Gynecological Survey. 79, 8, p. 452-454 3 p.

    Research output: Contribution to journal › Comment/debate

  • De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

    University of Washington Center for Mendelian Genomics, 1 Dec 2022, In: Genetics in Medicine. 24, 12, p. 2464-2474 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    6 Scopus citations

  • Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

    Tan, T. Y., Sedmík, J., Fitzgerald, M. P., Halevy, R. S., Keegan, L. P., Helbig, I., Basel-Salmon, L., Cohen, L., Straussberg, R., Chung, W. K., Helal, M., Maroofian, R., Houlden, H., Juusola, J., Sadedin, S., Pais, L., Howell, K. B., White, S. M., Christodoulou, J. & O'Connell, M. A., 2 Apr 2020, In: American Journal of Human Genetics. 106, 4, p. 467-483 17 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    42 Scopus citations

  • Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (Genetics in Medicine, (2020), 22, 2, (389-397), 10.1038/s41436-019-0612-0)

    Weiss, K., Lazar, H. P., Kurolap, A., Martinez, A. F., Paperna, T., Cohen, L., Smeland, M. F., Whalen, S., Heide, S., Keren, B., Terhal, P., Irving, M., Takaku, M., Roberts, J. D., Petrovich, R. M., Vergano, S. A. S., Kenney, A., Hove, H., DeChene, E. & Quinonez, S. C. & 29 others, Colin, E., Ziegler, A., Rumple, M., Jain, M., Monteil, D., Roeder, E. R., Nugent, K., van Haeringen, A., Gambello, M., Santani, A., Medne, L., Krock, B., Skraban, C. M., Zackai, E. H., Dubbs, H. A., Smol, T., Ghoumid, J., Parker, M. J., Wright, M., Turnpenny, P., Clayton-Smith, J., Metcalfe, K., Kurumizaka, H., Gelb, B. D., Feldman, H. B., Campeau, P. M., Muenke, M., Wade, P. A. & Lachlan, K., 1 Mar 2020, In: Genetics in Medicine. 22, 3, p. 669 1 p.

    Research output: Contribution to journal › Comment/debate

    Open Access
    6 Scopus citations

  • Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

    Weiss, K., Ekhilevitch, N., Cohen, L., Bratman-Morag, S., Bello, R., Martinez, A. F., Hadid, Y., Shlush, L. I., Kurolap, A., Paperna, T., Mory, A., Baris, H. N. & Muenke, M., 1 Feb 2020, In: European Journal of Medical Genetics. 63, 2, 103643.

    Research output: Contribution to journal › Article › peer-review

    8 Scopus citations

  • Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

    Regeneron Genetics Center, 1 Jan 2020, In: European Journal of Human Genetics. 28, 1, p. 76-87 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    21 Scopus citations

  • SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

    Crippa, M., Bestetti, I., Maitz, S., Weiss, K., Spano, A., Masciadri, M., Smithson, S., Larizza, L., Low, K., Cohen, L. & Finelli, P., 24 Jul 2020, In: Frontiers in Neurology. 11, 631.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    20 Scopus citations
View all 26 Research outputs