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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. Keehan L, et al. Among authors: dai h. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949769 Free PMC article.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Turvey SE, Lehman A. Mohajeri A, et al. J Med Genet. 2023 Nov;60(11):1092-1104. doi: 10.1136/jmg-2022-109127. Epub 2023 Jun 14. J Med Genet. 2023. PMID: 37316189
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network; Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Ravenscroft TA, et al. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113007 Free PMC article.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Magyar CL, et al. Among authors: dai h. Am J Med Genet A. 2022 Jun;188(6):1868-1874. doi: 10.1002/ajmg.a.62704. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35194938 Review.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA; Undiagnosed Diseases Network; Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. Merriweather A, et al. Among authors: dai h. Am J Med Genet A. 2022 Jul;188(7):2198-2203. doi: 10.1002/ajmg.a.62747. Epub 2022 Apr 9. Am J Med Genet A. 2022. PMID: 35396900 Free PMC article.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Among authors: dai h. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782
6,232 results