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Page 1
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association.
Keehan LA, Ono-Minagi H, Hadhud M, Rips J, Hinds DM, Fischer AJ, Bartlett JA, McCray PB Jr, Qawasmi N, Nathan N, Louvrier C, Desroziers T, Damme M, Griese M, Wegner DJ, Cole FS, Wambach JA, Wheeler MT, Burbelo PD, Bonner DE; Undiagnosed Diseases Network; Bernstein JA, Chiorini JA, Breuer O, Milla C. Keehan LA, et al. Genet Med. 2026 Feb 3:102531. doi: 10.1016/j.gim.2026.102531. Online ahead of print. Genet Med. 2026. PMID: 41653023
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
Furuta Y, Ezell KM, Hamid R, Cogan JD, Cassini TA, Rives L, McMinn A, Shah S, Peltier AC, Layfield S, Fletcher RS, Tedder ML, Louie RJ, Lee JA, Kerkhof J, Rzasa J, Sadikovic B, Al Mamun A, Sheehan JH, Moth CW, Meiler J, Vawter-Lee M, Mendoza-Sengco PM, Holzen JB, Pruthi S, Phillips JA 3rd, Tinker RJ; Undiagnosed Diseases Network. Furuta Y, et al. Mol Genet Genomic Med. 2025 Dec;13(12):e70165. doi: 10.1002/mgg3.70165. Mol Genet Genomic Med. 2025. PMID: 41407309 Free PMC article.
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Young RE, Qiao L, Hernan R, Sweetser DA, Waxler JL, Scott DA, Scott TM, Lalani SR, Azamian MS, Rosenfeld JA, Bostwick B, Burrage LC; Undiagnosed Diseases Network; Rodan LH, Russell BE, Dutra-Clarke M, Kruer M, Bakhtiarim S, Darvish H, Amor DJ, Rahman S, Stals K, Bradley L, Byrne S, Tolusso LK, Wong B, Benedict L, Wallis K, Micke K, Colson C, Smol T, Southwick SV, Miller KA, Kush ML, Chorin O, Rothschild A, Wang W, Shen Y, Chung WK. Young RE, et al. Clin Genet. 2026 Mar;109(3):437-457. doi: 10.1111/cge.70057. Epub 2025 Sep 10. Clin Genet. 2026. PMID: 40931319
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.
Stewart R, Ezell KM, Bell DS, Corner B, McMinn A, Cogan JD, Hamid R, Rives L, Phillips JA 3rd, Paddu N, Srivastava G, Marom R, Ladha FA, Soler-Alfonso C, Franciskovich R, Koziura M, Pruthi S, Richard G, Sheedy CB; Undiagnosed Diseases Network; Cassini T. Stewart R, et al. Am J Med Genet A. 2026 Jan;200(1):205-214. doi: 10.1002/ajmg.a.64233. Epub 2025 Aug 21. Am J Med Genet A. 2026. PMID: 40838347 Free article.
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.
Biphasic Myoepithelial Carcinoma With 5p/5q Loss: Morphomolecular Characterization and Provisional Designation of a Proposed Novel Salivary Tumor Entity.
Jurmeister P, Leitheiser M, Bergmayr L, Payá Capilla E, Mochmann LH, Zhdanovich Y, Engelhardt-Schott F, Schleich K, Klingler D, Chimal E, Focke CM, Breimer GE, van Engen van Grunsven I, von Deimling A, Capper D, Klauschen F, Ihrler S. Jurmeister P, et al. Among authors: leitheiser m. Am J Surg Pathol. 2025 Jul 1;49(9):890-900. doi: 10.1097/PAS.0000000000002450. Am J Surg Pathol. 2025. PMID: 40590272
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 Free article.
DNA Methylation Profiling of Salivary Gland Tumors Supports and Expands Conventional Classification.
Jurmeister P, Leitheiser M, Arnold A, Capilla EP, Mochmann LH, Zhdanovic Y, Schleich K, Jung N, Chimal EC, Jung A, Kumbrink J, Harter P, Prenißl N, Elezkurtaj S, Brcic L, Deigendesch N, Frank S, Hench J, Försch S, Breimer G, van Engen van Grunsven I, Lassche G, van Herpen C, Zhou F, Snuderl M, Agaimy A, Müller KR, von Deimling A, Capper D, Klauschen F, Ihrler S. Jurmeister P, et al. Among authors: leitheiser m. Mod Pathol. 2024 Dec;37(12):100625. doi: 10.1016/j.modpat.2024.100625. Epub 2024 Sep 25. Mod Pathol. 2024. PMID: 39332710 Free article.
14 results