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Page 1
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
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. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Author Correction: Intravenous and intracranial GD2-CAR T cells for H3K27M+ diffuse midline gliomas.
Monje M, Mahdi J, Majzner R, Yeom KW, Schultz LM, Richards RM, Barsan V, Song KW, Kamens J, Baggott C, Kunicki M, Rietberg SP, Lim AS, Reschke A, Mavroukakis S, Egeler E, Moon J, Patel S, Chinnasamy H, Erickson C, Jacobs A, Duh AK, Tunuguntla R, Klysz DD, Fowler C, Green S, Beebe B, Carr C, Fujimoto M, Brown AK, Petersen AG, McIntyre C, Siddiqui A, Lepori-Bui N, Villar K, Pham K, Bove R, Musa E, Reynolds WD, Kuo A, Prabhu S, Rasmussen L, Cornell TT, Partap S, Fisher PG, Campen CJ, Grant G, Prolo L, Ye X, Sahaf B, Davis KL, Feldman SA, Ramakrishna S, Mackall C. Monje M, et al. Among authors: fisher pg. Nature. 2024 Dec;636(8043):E6. doi: 10.1038/s41586-024-08452-3. Nature. 2024. PMID: 39613972 Free PMC article. No abstract available.
Intravenous and intracranial GD2-CAR T cells for H3K27M+ diffuse midline gliomas.
Monje M, Mahdi J, Majzner R, Yeom KW, Schultz LM, Richards RM, Barsan V, Song KW, Kamens J, Baggott C, Kunicki M, Rietberg SP, Lim AS, Reschke A, Mavroukakis S, Egeler E, Moon J, Patel S, Chinnasamy H, Erickson C, Jacobs A, Duh AK, Tunuguntla R, Klysz DD, Fowler C, Green S, Beebe B, Carr C, Fujimoto M, Brown AK, Petersen AG, McIntyre C, Siddiqui A, Lepori-Bui N, Villar K, Pham K, Bove R, Musa E, Reynolds WD, Kuo A, Prabhu S, Rasmussen L, Cornell TT, Partap S, Fisher PG, Campen CJ, Grant G, Prolo L, Ye X, Sahaf B, Davis KL, Feldman SA, Ramakrishna S, Mackall C. Monje M, et al. Among authors: fisher pg. Nature. 2024 Nov 13. doi: 10.1038/s41586-024-08171-9. Online ahead of print. Nature. 2024. PMID: 39537919
Editorial Efforts Across Pediatric Journals to Address Racism.
Lopez MA, Bearer CF, Christakis DA, First LR, Fisher PG, Ford CA, Szilagyi PG, Raphael JL. Lopez MA, et al. Among authors: fisher pg. Acad Pediatr. 2024 Sep-Oct;24(7S):S227-S230. doi: 10.1016/j.acap.2024.07.009. Acad Pediatr. 2024. PMID: 39428163 Free article. No abstract available.
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
Comments and Controversies in Oncology: The Tribulations of Trials Developing ONC201.
Hansford JR, Bouche G, Ramaswamy V, Jabado N, Fonseca A, Moloney S, Gottardo NG, Robinson GW, Gajjar A, Tinkle CL, Fisher PG, Foreman N, Ashley DM, Ziegler DS, Eisenstat DD, Massimino M, Witt O, Bartels U, Rutkowski S, Hargrave D, Fouladi M, Pfister SM, Bouffet E. Hansford JR, et al. Among authors: fisher pg. J Clin Oncol. 2024 Dec 10;42(35):4126-4129. doi: 10.1200/JCO.24.00709. Epub 2024 Aug 7. J Clin Oncol. 2024. PMID: 39110925
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. Genet Med. 2024. PMID: 39036895 Free PMC article.
Sequential intravenous and intracerebroventricular GD2-CAR T-cell therapy for H3K27M-mutated diffuse midline gliomas.
Monje M, Mahdi J, Majzner R, Yeom K, Schultz LM, Richards RM, Barsan V, Song KW, Kamens J, Baggott C, Kunicki M, Lim AS, Reschke A, Mavroukakis S, Egeler E, Moon J, Patel S, Chinnasamy H, Erickson C, Jacobs A, Duh AK, Rietberg SP, Tunuguntla R, Klysz DD, Fowler C, Green S, Beebe B, Carr C, Fujimoto M, Brown AK, Petersen AG, McIntyre C, Siddiqui A, Lepori-Bui N, Villar K, Pham K, Bove R, Musa E, Reynolds W, Kuo A, Prabhu S, Rasmussen L, Cornell TT, Partap S, Fisher PG, Campen CJ, Grant G, Prolo L, Ye X, Sahaf B, Davis KL, Feldman SA, Ramakrishna S, Mackall C. Monje M, et al. Among authors: fisher pg. medRxiv [Preprint]. 2024 Jun 27:2024.06.25.24309146. doi: 10.1101/2024.06.25.24309146. medRxiv. 2024. PMID: 38978673 Free PMC article. Preprint.
299 results