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13 results

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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
Chen X, Baker D, Dolzhenko E, Devaney JM, Noya J, Berlyoung AS, Brandon R, Hruska KS, Lochovsky L, Kruszka P, Newman S, Farrow E, Thiffault I, Pastinen T, Kasperaviciute D, Gilissen C, Vissers L, Hoischen A, Berger S, Vilain E, Délot E; UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium; Eberle MA. Chen X, et al. Nat Commun. 2025 Mar 8;16(1):2340. doi: 10.1038/s41467-025-57505-2. Nat Commun. 2025. PMID: 40057485 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.
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Mew NA, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM; UCI-GREGoR Consortium; Xiao C, Délot EC, Berger SI, Vilain E. Pitsava G, et al. Among authors: almalvez m. medRxiv [Preprint]. 2025 Jun 18:2024.12.21.24318325. doi: 10.1101/2024.12.21.24318325. medRxiv. 2025. Update in: Genet Med. 2025 Sep 6;27(11):101574. doi: 10.1016/j.gim.2025.101574. PMID: 39763557 Free PMC article. Updated. Preprint.
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2025 Apr;197(4):e63956. doi: 10.1002/ajmg.a.63956. Epub 2024 Dec 4. Am J Med Genet A. 2025. PMID: 39629753 Free PMC article.
Long-read single-molecule maps of the functional methylome.
Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, Chen YW, Vilain E, Wagner KR, Pevsner J, Reifenberger J, Lam ET, Hastie AR, Cao H, Barseghyan H, Weinhold E, Ebenstein Y. Sharim H, et al. Among authors: almalvez m. Genome Res. 2019 Apr;29(4):646-656. doi: 10.1101/gr.240739.118. Epub 2019 Mar 7. Genome Res. 2019. PMID: 30846530 Free PMC article.
Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.
Monlong J, Chen X, Barseghyan H, Rowell WJ, Negi S, Nokoff N, Mohnach L, Hirsch J, Finlayson C, Keegan CE, Almalvez M, Berger SI, de Dios I, McNulty B, Robertson A, Miga KH, Speiser PW, Paten B, Vilain E, Délot EC. Monlong J, et al. Among authors: almalvez m. medRxiv [Preprint]. 2025 Feb 10:2025.02.07.25321404. doi: 10.1101/2025.02.07.25321404. medRxiv. 2025. PMID: 39990550 Free PMC article. Preprint.
Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.
Bornhorst M, Eze A Jr, Bhattacharya S, Putnam E, Almira-Suarez MI, Rossi C, Kambhampati M, Almalvez M, Barseghyan M, Del Risco N, Dotson D, Turner J, Myseros JS, Vilain E, Packer RJ, Nazarian J, Rood B, Barseghyan H. Bornhorst M, et al. Among authors: almalvez m. J Pathol. 2023 Jul;260(3):329-338. doi: 10.1002/path.6085. Epub 2023 May 19. J Pathol. 2023. PMID: 37203791 Free PMC article.
13 results