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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Kobren SN, et al. Nat Commun. 2025 Aug 7;16(1):7267. doi: 10.1038/s41467-025-61712-2. Nat Commun. 2025. PMID: 40770127 Free PMC article.
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Weisz-Hubshman M, Burrage LC, Jangam SV, Rosenfeld JA, von Hardenberg S, Bergmann A, Richter MF, Rydzanicz M, Ploski R, Stembalska A, Chung WK, Hernan RR, Lim FY, Brunet T, Syrbe S, Keren B, Heide S, Murdock DR, Dai H, Xia F, Ketkar S, Dawson B, Narayanan V, Graves HK; Undiagnosed Diseases Network; Wangler MF, Bacino C, Lee B. Weisz-Hubshman M, et al. Genet Med. 2025 Apr;27(4):101369. doi: 10.1016/j.gim.2025.101369. Epub 2025 Jan 28. Genet Med. 2025. PMID: 39891528 Free PMC article.
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Dore R, Chang CT, Declève A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF; Undiagnosed Diseases Network; Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R. Dore R, et al. Genet Med. 2025 Sep;27(9):101506. doi: 10.1016/j.gim.2025.101506. Epub 2025 Jun 23. Genet Med. 2025. PMID: 40576023 Free PMC article.
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.
Fazal S, Dashnow H, Dohrn MF, Raposo J, Hiatt L, Danzi MC, Xu IRL, Toro C, Adams DR, Usdin K, Hayward B, Kobren SN, Sunyaev SR, Spillmann RC, Shashi V, Rebelo A, Bademci G; Undiagnosed Diseases Network; Tekin M, Quinlan AR, Zuchner S. Fazal S, et al. Genet Med. 2025 Aug;27(8):101462. doi: 10.1016/j.gim.2025.101462. Epub 2025 May 22. Genet Med. 2025. PMID: 40417743
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193 Free PMC article.
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