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Page 1
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. 2025 Aug 21:e64233. doi: 10.1002/ajmg.a.64233. Online ahead of print. Am J Med Genet A. 2025. PMID: 40838347
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
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.
DNA methylation-based classification of sinonasal tumors.
Jurmeister P, Glöß S, Roller R, Leitheiser M, Schmid S, Mochmann LH, Payá Capilla E, Fritz R, Dittmayer C, Friedrich C, Thieme A, Keyl P, Jarosch A, Schallenberg S, Bläker H, Hoffmann I, Vollbrecht C, Lehmann A, Hummel M, Heim D, Haji M, Harter P, Englert B, Frank S, Hench J, Paulus W, Hasselblatt M, Hartmann W, Dohmen H, Keber U, Jank P, Denkert C, Stadelmann C, Bremmer F, Richter A, Wefers A, Ribbat-Idel J, Perner S, Idel C, Chiariotti L, Della Monica R, Marinelli A, Schüller U, Bockmayr M, Liu J, Lund VJ, Forster M, Lechner M, Lorenzo-Guerra SL, Hermsen M, Johann PD, Agaimy A, Seegerer P, Koch A, Heppner F, Pfister SM, Jones DTW, Sill M, von Deimling A, Snuderl M, Müller KR, Forgó E, Howitt BE, Mertins P, Klauschen F, Capper D. Jurmeister P, et al. Among authors: leitheiser m. Nat Commun. 2022 Nov 28;13(1):7148. doi: 10.1038/s41467-022-34815-3. Nat Commun. 2022. PMID: 36443295 Free PMC article.
PEDIA: prioritization of exome data by image analysis.
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. Hsieh TC, et al. Among authors: leitheiser m. Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5. Genet Med. 2019. PMID: 31164752 Free PMC article.