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Did you mean barton e (561 results)?
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Morimoto M, Ryu E, Steger BJ, Dixit A, Saito Y, Yoo J, van der Ven AT, Hauser N, Steinbach PJ, Oura K, Huang AY, Kortüm F, Ninomiya S, Rosenthal EA, Robinson HK, Guegan K, Denecke J, Subramony SH, Diamonstein CJ, Ping J, Fenner M, Balton EV, Strohbehn S, Allworth A, Bamshad MJ, Gandhi M, Dipple KM, Blue EE, Jarvik GP; University of Washington Center for Rare Disease Research; Lau CC, Holm IA, Weisz-Hubshman M, Solomon BD; Undiagnosed Diseases Network; Nelson SF, Nishino I, Adams DR, Kang S, Gahl WA, Toro C, Myung K, Malicdan MCV. Morimoto M, et al. Among authors: balton ev. Am J Hum Genet. 2024 Sep 5;111(9):1970-1993. doi: 10.1016/j.ajhg.2024.07.008. Epub 2024 Aug 5. Am J Hum Genet. 2024. PMID: 39106866 Free PMC article.
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
De Jonghe J, Kim HC, Adedeji A, Leitão E, Dawes R, Chen Y, Blakes AJ, Simons C, Rius R, Alvi JR, Amblard F, Austin-Tse C, Baer S, Balton EV, Blanc P, Calame DG, Coutton C, Cunningham CA, Dargie N, Dipple KM, Du H, El Chehadeh S, Glass I, Gleeson JG, Grunewald O, Gueguen P, Harbuz R, Jacquemont ML, Leventer RJ, Marijon P, Messaoud O, Sultan T, Thauvin C, Vincent-Delorme C, Gulec EY, Thevenon J, Mendez R, MacArthur DG, Depienne C, Nava C, Whiffin N, Findlay GM. De Jonghe J, et al. Among authors: balton ev. medRxiv [Preprint]. 2025 Apr 10:2025.04.08.25325442. doi: 10.1101/2025.04.08.25325442. medRxiv. 2025. PMID: 40297424 Free PMC article. Preprint.
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.
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.
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
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.
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.
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
Implementation of a Traceback Testing Program for Ovarian Cancer: Findings from the FACTS Study.
Henrikson NB, Jonas MC, Blasi PR, Buchanan AH, Suwannarat P, Leppig K, Scrol A, Leitzel T, Deneal AN, Canedo D, Ramaprasan A, Basra SS, Brown J, Odums M, Hu Y, Romagnoli KM, Khieu E, Balton E, Patel S, Kunnmann M, Hassen D, Hao J, Lewis M, Schwiter R, Goehringer J, Ramey HM, Gustafson S, Hsieh K, Ladd I, Rahm AK. Henrikson NB, et al. Among authors: balton e. Cancers (Basel). 2025 Mar 29;17(7):1154. doi: 10.3390/cancers17071154. Cancers (Basel). 2025. PMID: 40227675 Free PMC article.