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Page 1
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: murakami y. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.
Record CJ, O'Connor A, Verbeek NE, van Rheenen W, Zamba Papanicolaou E, Peric S, Ligthart PC, Skorupinska M, van Binsbergen E, Campeau PM, Ivanovic V, Hennigan B, McHugh JC, Blake JC, Murakami Y, Laura M, Murphy SM, Reilly MM. Record CJ, et al. Among authors: murakami y. Ann Neurol. 2024 Oct 23. doi: 10.1002/ana.27113. Online ahead of print. Ann Neurol. 2024. PMID: 39444079
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: murakami y. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Protruding nodular fasciitis on the face.
Akanabe H, Tanahashi K, Mori S, Murakami Y, Motoi T, Akiyama M. Akanabe H, et al. Among authors: murakami y. J Dermatol. 2024 Dec 23. doi: 10.1111/1346-8138.17591. Online ahead of print. J Dermatol. 2024. PMID: 39716723 No abstract available.
Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.
Flanagan J, Liu X, Ortega-Reyes D, Tomizuka K, Matoba N, Akiyama M, Koido M, Ishigaki K, Ashikawa K, Takata S, Shi M, Aoi T, Momozawa Y, Ito K, Murakami Y, Matsuda K; Biobank Japan Project; Kamatani Y, Morris AP, Horikoshi M, Terao C. Flanagan J, et al. Among authors: murakami y. Commun Biol. 2024 Dec 19;7(1):1665. doi: 10.1038/s42003-024-07338-4. Commun Biol. 2024. PMID: 39702642 Free PMC article.
A case of cerebral amyloid angiopathy with ipsilateral tau and contralateral amyloid PET uptake related to cadaveric dura mater implanted in childhood.
Hatakeyama Y, Kimura AM, Tsuboguchi S, Ratanov M, Nakamura K, Hatakeyama M, Nakamura Y, Watanabe M, Murakami Y, Saito Y, Murayama S, Kasuga K, Ikeuchi T, Igarashi H, Onodera O, Shimada H. Hatakeyama Y, et al. Among authors: murakami y. Eur J Nucl Med Mol Imaging. 2024 Dec 19. doi: 10.1007/s00259-024-07030-z. Online ahead of print. Eur J Nucl Med Mol Imaging. 2024. PMID: 39699685 No abstract available.
Cancer and disease profiles for PTEN pathogenic variants in Japanese population.
Kanazashi Y, Usui Y, Iwasaki Y, Sasagawa S, Endo M, Yamaguchi M, Johnson TA, Maejima K, Shiraishi K, Kohno T, Yoshida T, Sugano K, Murakami Y, Kamatani Y, Matsumoto N, Matsuda K, Momozawa Y, Nakagawa H. Kanazashi Y, et al. Among authors: murakami y. J Hum Genet. 2024 Dec 12. doi: 10.1038/s10038-024-01311-z. Online ahead of print. J Hum Genet. 2024. PMID: 39663357
4,149 results