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Search life-sciences literature (45,104,145 articles, preprints and more)

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Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
Li S, Takada S, Abdel-Salam GMH, Abdel-Hamid MS, Zaki MS, Issa MY, Salem AMS, Koshimizu E, Fujita A, Fukai R, Ohshima T, Matsumoto N, Miyake N
NPJ Genom Med, 9(1):55, 05 Nov 2024
Cited by: 0 articles | PMID: 39500882 | PMCID: PMC11538285
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Complete nanopore repeat sequencing of SCA27B (GAA-<i>FGF14</i> ataxia) in Japanese.
Miyatake S, Doi H, Yaguchi H, Koshimizu E, Kihara N, Matsubara T, Mori Y, Kunieda K, Shimizu Y, Toyota T, Shirai S, Matsushima M, Okubo M, Wada T, Kunii M, Johkura K, Miyamoto R, Osaki Y, Miyama T, [...] Matsumoto N
J Neurol Neurosurg Psychiatry, 95(12):1187-1195, 18 Nov 2024
Cited by: 0 articles | PMID: 38816190
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Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Nakamura Y, Shimada IS, Maroofian R, Falabella M, Zaki MS, Fujimoto M, Sato E, Takase H, Aoki S, Miyauchi A, Koshimizu E, Miyatake S, Arioka Y, Honda M, Higashi T, Miya F, Okubo Y, Ogawa I, Scardamaglia A, [...] Saitoh S
Brain, 147(11):3949-3967, 01 Nov 2024
Cited by: 0 articles | PMID: 39082157 | PMCID: PMC11531855
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Biallelic missense CEP55 variants cause prenatal MARCH syndrome.
Fu L, Yamamoto Y, Seyama R, Matsuzawa N, Nagaoka M, Yao T, Hamada K, Ogata K, Suzuki T, Tsuchida N, Uchiyama Y, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Fujita A, Itakura A, Matsumoto N
J Hum Genet, 16 Oct 2024
Cited by: 0 articles | PMID: 39414989
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A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.
Watanabe K, Bunai T, Sakamoto M, Ishigaki S, Iwakura T, Ohashi N, Wakatsuki R, Takenouchi A, Iwaizumi M, Hotta Y, Saida K, Koshimizu E, Miyatake S, Saitsu H, Matsumoto N, Nakamura T
J Neurol, 271(9):6227-6237, 30 Jul 2024
Cited by: 0 articles | PMID: 39078482
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Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.
Ohori S, Numabe H, Mitsuhashi S, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Fujita A, Matsumoto N
Genomics, 116(5):110894, 15 Jul 2024
Cited by: 1 article | PMID: 39019410
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A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.
Ohashi T, Kunimoto H, Nukui J, Teshigawara H, Koyama S, Miyazaki T, Hagihara M, Matsumoto K, Koshimizu E, Tsuchida N, Hamanoue H, Miyatake S, Yachie A, Matsumoto N, Nakajima H
Int J Hematol, 119(5):603-607, 15 Mar 2024
Cited by: 0 articles | PMID: 38489090
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FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.
Matsushima M, Yaguchi H, Koshimizu E, Kudo A, Shirai S, Matsuoka T, Ura S, Kawashima A, Fukazawa T, Miyatake S, Matsumoto N, Yabe I
J Neurol, 271(6):3643-3647, 12 Mar 2024
Cited by: 0 articles | PMID: 38472396
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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N
J Hum Genet, 69(3-4):163-167, 17 Jan 2024
Cited by: 2 articles | PMID: 38228874
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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
Koshimizu E, Kato M, Misawa K, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Matsumoto N
J Hum Genet, 69(3-4):153-157, 12 Jan 2024
Cited by: 0 articles | PMID: 38216729
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RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Wada T, Doi H, Okubo M, Tada M, Ueda N, Suzuki H, Tominaga W, Koike H, Komiya H, Kubota S, Hashiguchi S, Nakamura H, Takahashi K, Kunii M, Tanaka K, Miyaji Y, Higashiyama Y, Koshimizu E, Miyatake S, [...] Tanaka F
Ann Neurol, 95(3):607-613, 27 Dec 2023
Cited by: 3 articles | PMID: 38062616
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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.
Sakamoto M, Kurosawa K, Tanoue K, Iwama K, Ishida F, Watanabe Y, Okamoto N, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N
J Hum Genet, 69(2):85-90, 30 Nov 2023
Cited by: 1 article | PMID: 38030753
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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Utsuno Y, Hamada K, Hamanaka K, Miyoshi K, Tsuchimoto K, Sunada S, Itai T, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Kato Y, Saito K, Ogata K, Matsumoto N
J Hum Genet, 69(2):69-77, 27 Nov 2023
Cited by: 3 articles | PMID: 38012394
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Case series: Downbeat nystagmus in SCA27B.
Shirai S, Mizushima K, Fujiwara K, Koshimizu E, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I
J Neurol Sci, 454:120849, 27 Oct 2023
Cited by: 3 articles | PMID: 37907039
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Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.
Mizuguchi T, Toyota T, Koshimizu E, Kameyama S, Fukuda H, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Misawa K, Miyatake S, Adachi H, Matsumoto N
J Hum Genet, 68(12):875-878, 18 Aug 2023
Cited by: 0 articles | PMID: 37592133
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Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.
Sugeno N, Hasegawa T, Haginoya K, Kubota T, Ikeda K, Nakamura T, Ishiyama S, Sato K, Yoshida S, Koshimizu E, Uematsu M, Miyatake S, Matsumoto N, Aoki M
Mol Syndromol, 14(6):461-468, 26 Jun 2023
Cited by: 0 articles | PMID: 38108041 | PMCID: PMC10722472
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Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
Fukuda H, Mizuguchi T, Doi H, Kameyama S, Kunii M, Joki H, Takahashi T, Komiya H, Sasaki M, Miyaji Y, Ohori S, Koshimizu E, Uchiyama Y, Tsuchida N, Fujita A, Hamanaka K, Misawa K, Miyatake S, Tanaka F, Matsumoto N
J Hum Genet, 68(10):689-697, 12 Jun 2023
Cited by: 1 article | PMID: 37308565
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Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
Ohori S, Miyauchi A, Osaka H, Lourenco CM, Arakaki N, Sengoku T, Ogata K, Honjo RS, Kim CA, Mitsuhashi S, Frith MC, Seyama R, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, [...] Matsumoto N
Life Sci Alliance, 6(8):e202302025, 07 Jun 2023
Cited by: 2 articles | PMID: 37286232 | PMCID: PMC10248215
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A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Seyama R, Nishikawa M, Uchiyama Y, Hamada K, Yamamoto Y, Takeda M, Ochi T, Kishi M, Suzuki T, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Yao T, Ito H, [...] Matsumoto N
Sci Rep, 13(1):9789, 16 Jun 2023
Cited by: 0 articles | PMID: 37328543 | PMCID: PMC10275923
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Biallelic null variants inPNPLA8cause microcephaly through the reduced abundance of basal radial glia
Nakamura Y, Shimada IS, Maroofian R, Houlden H, Falabella M, Fujimoto M, Sato E, Takase H, Aoki S, Miyauchi A, Koshimizu E, Miyatake S, Arioka Y, Honda M, Higashi T, Miya F, Okubo Y, Ogawa I, Scardamaglia A, [...] Saitoh S
medRxiv, 29 Apr 2023
Cited by: 0 articles | PPR: PPR652694
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Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
Sakamoto M, Shiiki T, Matsui S, Okamoto N, Koshimizu E, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Matsumoto N
J Hum Genet, 68(4):299, 01 Apr 2023
Cited by: 0 articles | PMID: 36694001
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Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.
Hamanaka K, Yamauchi D, Koshimizu E, Watase K, Mogushi K, Ishikawa K, Mizusawa H, Tsuchida N, Uchiyama Y, Fujita A, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N
Genome Res, 33(3):435-447, 27 Mar 2023
Cited by: 6 articles | PMID: 37307504 | PMCID: PMC10078293
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Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, [...] Matsumoto N
Sci Rep, 13(1):3954, 09 Mar 2023
Cited by: 0 articles | PMID: 36894578 | PMCID: PMC9998850
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Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, [...] Matsumoto N
Eur J Hum Genet, 27 Mar 2023
Cited by: 3 articles | PMID: 36973392
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Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Ylikotila P, Sipilä J, Alapirtti T, Ahmasalo R, Koshimizu E, Miyatake S, Hurme-Niiranen A, Siitonen A, Doi H, Tanaka F, Matsumoto N, Majamaa K, Kytövuori L
Eur J Neurol, 30(5):1256-1261, 12 Feb 2023
Cited by: 3 articles | PMID: 36705320
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1-25 of 99 results

1 2 3 Next ...

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.

Complete nanopore repeat sequencing of SCA27B (GAA-<i>FGF14</i> ataxia) in Japanese.

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.

RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.

A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.

Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.

Case series: Downbeat nystagmus in SCA27B.

Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.

Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.

A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.

Biallelic null variants inPNPLA8cause microcephaly through the reduced abundance of basal radial glia

Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.

Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.

Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.

Molecular diagnosis of 405 individuals with autism spectrum disorder.

Association of biallelic RFC1 expansion with early-onset Parkinson's disease.

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