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Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE; UDN Consortium. Kilich G, et al. NPJ Genom Med. 2024 Jan 11;9(1):5. doi: 10.1038/s41525-023-00389-2. NPJ Genom Med. 2024. PMID: 38212313 Free PMC article.
Simulation of undiagnosed patients with novel genetic conditions.
Alsentzer E, Finlayson SG, Li MM; Undiagnosed Diseases Network; Kobren SN, Kohane IS. Alsentzer E, et al. Nat Commun. 2023 Oct 12;14(1):6403. doi: 10.1038/s41467-023-41980-6. Nat Commun. 2023. PMID: 37828001 Free PMC article.
Pitfalls of genetic testing in a patient with IKBKG deficiency.
Kilich G, Patel S, Hassey K, Weinberger T, Sullivan KE. Kilich G, et al. Ann Allergy Asthma Immunol. 2024 Oct;133(4):481-483. doi: 10.1016/j.anai.2024.06.018. Epub 2024 Jun 17. Ann Allergy Asthma Immunol. 2024. PMID: 38897406 No abstract available.