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Items: 1 to 50 of 776

1.

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.

Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N.

J Hum Genet. 2019 Jul 4. doi: 10.1038/s10038-019-0626-0. [Epub ahead of print]

PMID:
31270375
2.

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N.

J Hum Genet. 2019 Jun 18. doi: 10.1038/s10038-019-0631-3. [Epub ahead of print]

PMID:
31213653
3.

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.

Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N.

Neurology. 2019 Jul 16;93(3):e237-e251. doi: 10.1212/WNL.0000000000007774. Epub 2019 Jun 13.

PMID:
31197031
4.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N.

Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9.

5.

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.

Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Nakajima H, Miyatake S, Matsumoto N.

Arthritis Res Ther. 2019 Jun 4;21(1):137. doi: 10.1186/s13075-019-1928-5.

6.

A novel de novo frameshift variant in SETD1B causes epilepsy.

Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N.

J Hum Genet. 2019 Aug;64(8):821-827. doi: 10.1038/s10038-019-0617-1. Epub 2019 May 20.

PMID:
31110234
7.

Emergency department visits for depression in the United States from 2006 to 2014.

Ballou S, Mitsuhashi S, Sankin LS, Petersen TS, Zubiago J, Lembo C, Takazawa E, Katon J, Sommers T, Hirsch W, Rangan V, Jones M.

Gen Hosp Psychiatry. 2019 Jul - Aug;59:14-19. doi: 10.1016/j.genhosppsych.2019.04.015. Epub 2019 Apr 24.

PMID:
31078012
8.

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.

Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N.

J Hum Genet. 2019 Jul;64(7):647-652. doi: 10.1038/s10038-019-0596-2. Epub 2019 Apr 15.

PMID:
30988409
9.

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N.

Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066.

PMID:
30985895
10.

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.

Mitsuhashi S, Frith MC, Mizuguchi T, Miyatake S, Toyota T, Adachi H, Oma Y, Kino Y, Mitsuhashi H, Matsumoto N.

Genome Biol. 2019 Mar 19;20(1):58. doi: 10.1186/s13059-019-1667-6.

11.

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.

Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N.

J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6.

PMID:
30842224
12.

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N.

J Hum Genet. 2019 May;64(5):487-492. doi: 10.1038/s10038-019-0571-y. Epub 2019 Feb 14.

PMID:
30765867
13.

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.

Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Saitsu H, Matsumoto N.

J Hum Genet. 2019 Apr;64(4):347-350. doi: 10.1038/s10038-018-0556-2. Epub 2019 Jan 9.

PMID:
30626896
14.

Myocardin Is Involved in Mesothelial-Mesenchymal Transition of Human Pleural Mesothelial Cells.

Tucker T, Tsukasaki Y, Sakai T, Mitsuhashi S, Komatsu S, Jeffers A, Idell S, Ikebe M.

Am J Respir Cell Mol Biol. 2019 Jul;61(1):86-96. doi: 10.1165/rcmb.2018-0121OC.

PMID:
30605348
15.

Correction: GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J.

J Hum Genet. 2019 Mar;64(3):269. doi: 10.1038/s10038-018-0547-3.

PMID:
30585253
16.

SOFT syndrome in a patient from Chile.

Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N.

Am J Med Genet A. 2019 Mar;179(3):338-340. doi: 10.1002/ajmg.a.61015. Epub 2018 Dec 20.

PMID:
30569574
17.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.

Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N.

Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28.

PMID:
30487643
18.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N.

Genet Med. 2019 Jul;21(7):1629-1638. doi: 10.1038/s41436-018-0360-6. Epub 2018 Nov 23.

PMID:
30467404
19.

Repurposing existing drugs: identification of irreversible IMPDH inhibitors by high-throughput screening.

Sarwono AEY, Mitsuhashi S, Kabir MHB, Shigetomi K, Okada T, Ohsaka F, Otsuguro S, Maenaka K, Igarashi M, Kato K, Ubukata M.

J Enzyme Inhib Med Chem. 2019 Dec;34(1):171-178. doi: 10.1080/14756366.2018.1540474.

20.

Biallelic COLGALT1 variants are associated with cerebral small vessel disease.

Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N.

Ann Neurol. 2018 Dec;84(6):843-853. doi: 10.1002/ana.25367. Epub 2018 Nov 30.

PMID:
30412317
21.

Prevalence of Chronic Constipation and Chronic Diarrhea in Diabetic Individuals in the United States.

Sommers T, Mitsuhashi S, Singh P, Hirsch W, Katon J, Ballou S, Rangan V, Cheng V, Friedlander D, Iturrino J, Lembo A, Nee J.

Am J Gastroenterol. 2019 Jan;114(1):135-142. doi: 10.1038/s41395-018-0418-8.

PMID:
30410038
22.

GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J.

J Hum Genet. 2019 Jan;64(1):11-16. doi: 10.1038/s10038-018-0525-9. Epub 2018 Nov 2. Erratum in: J Hum Genet. 2018 Dec 26;:.

PMID:
30390020
23.

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB.

Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31.

PMID:
30345904
24.

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N.

Clin Genet. 2018 Dec;94(6):538-547. doi: 10.1111/cge.13454.

PMID:
30280376
25.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N.

J Hum Genet. 2018 Dec;63(12):1223-1229. doi: 10.1038/s10038-018-0516-x. Epub 2018 Sep 27.

PMID:
30258207
26.

Detection of pathogenic bacteria in the blood from sepsis patients using 16S rRNA gene amplicon sequencing analysis.

Watanabe N, Kryukov K, Nakagawa S, Takeuchi JS, Takeshita M, Kirimura Y, Mitsuhashi S, Ishihara T, Aoki H, Inokuchi S, Imanishi T, Inoue S.

PLoS One. 2018 Aug 15;13(8):e0202049. doi: 10.1371/journal.pone.0202049. eCollection 2018.

27.

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.

Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.

Hum Mol Genet. 2018 Dec 1;27(23):4024-4035. doi: 10.1093/hmg/ddy293.

28.

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T.

Clin Genet. 2018 Dec;94(6):548-553. doi: 10.1111/cge.13423. Epub 2018 Sep 3.

PMID:
30051457
29.

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.

Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6.

PMID:
30019515
30.

A novel SLC9A1 mutation causes cerebellar ataxia.

Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Oct;63(10):1049-1054. doi: 10.1038/s10038-018-0488-x. Epub 2018 Jul 17.

PMID:
30018422
31.

Identification of a novel bacteriocin-like protein and structural gene from Rhodococcus erythropolis JCM 2895, using suppression-subtractive hybridization.

Kitagawa W, Mitsuhashi S, Hata M, Tamura T.

J Antibiot (Tokyo). 2018 Oct;71(10):872-879. doi: 10.1038/s41429-018-0078-3. Epub 2018 Jul 6.

PMID:
29980745
32.

Zmynd17 controls muscle mitochondrial quality and whole-body metabolism.

Fujita R, Yoshioka K, Seko D, Suematsu T, Mitsuhashi S, Senoo N, Miura S, Nishino I, Ono Y.

FASEB J. 2018 Sep;32(9):5012-5025. doi: 10.1096/fj.201701264R. Epub 2018 Apr 13.

PMID:
29913553
33.

PRUNE1-related disorder: Expanding the clinical spectrum.

Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N.

Clin Genet. 2018 Oct;94(3-4):362-367. doi: 10.1111/cge.13385. Epub 2018 Jun 26.

PMID:
29797509
34.

Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.

Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N.

Clin Genet. 2018 Aug;94(2):274-275. doi: 10.1111/cge.13369. Epub 2018 May 21. No abstract available.

PMID:
29782645
35.

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N.

Ann Neurol. 2018 Jul;84(1):159-161. doi: 10.1002/ana.25256. Epub 2018 Jul 30. No abstract available.

PMID:
29740860
36.

Role of Inner Speech on Serial Recall in Children with ASD: A Pilot Study Using the Luria Hand Test.

Mitsuhashi S, Hirata S, Okuzumi H.

Autism Res Treat. 2018 Mar 14;2018:6873412. doi: 10.1155/2018/6873412. eCollection 2018.

37.

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.

Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E.

J Neuromuscul Dis. 2018;5(2):193-203. doi: 10.3233/JND-170225.

38.

Demographic and Dietary Associations of Chronic Diarrhea in a Representative Sample of Adults in the United States.

Singh P, Mitsuhashi S, Ballou S, Rangan V, Sommers T, Cheng V, Iturrino-Moreda J, Friedlander D, Nee J, Lembo A.

Am J Gastroenterol. 2018 Apr;113(4):593-600. doi: 10.1038/ajg.2018.24. Epub 2018 Mar 6.

PMID:
29610515
39.

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A.

J Hum Genet. 2018 May;63(5):673-676. doi: 10.1038/s10038-018-0421-3. Epub 2018 Feb 28. Review.

PMID:
29491473
40.

Risk Factors for Fecal Urgency Among Individuals With and Without Diarrhea, Based on Data From the National Health and Nutrition Examination Survey.

Rangan V, Mitsuhashi S, Singh P, Ballou S, Hirsch W, Sommers T, Nee J, Iturrino J, Lembo A.

Clin Gastroenterol Hepatol. 2018 Sep;16(9):1450-1458.e2. doi: 10.1016/j.cgh.2018.02.020. Epub 2018 Feb 21.

PMID:
29474972
41.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N.

Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052.

PMID:
29432562
42.

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Mar;63(3):263-270. doi: 10.1038/s10038-017-0405-8. Epub 2018 Jan 16.

PMID:
29339779
43.

Higher serum vitamin D levels are associated with protective serum cytokine profiles in patients with ulcerative colitis.

Gubatan J, Mitsuhashi S, Longhi MS, Zenlea T, Rosenberg L, Robson S, Moss AC.

Cytokine. 2018 Mar;103:38-45. doi: 10.1016/j.cyto.2017.12.023. Epub 2018 Jan 8.

44.

GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.

Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki H, Sakoda S, Takahashi MP, Nishino I.

Neuromuscul Disord. 2018 Feb;28(2):154-157. doi: 10.1016/j.nmd.2017.11.003. Epub 2017 Nov 22.

PMID:
29307446
45.

A novel mutation in SLC1A3 causes episodic ataxia.

Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Feb;63(2):207-211. doi: 10.1038/s10038-017-0365-z. Epub 2017 Dec 5.

PMID:
29208948
46.

Combined CT-based and image-free navigation systems in TKA reduces postoperative outliers of rotational alignment of the tibial component.

Mitsuhashi S, Akamatsu Y, Kobayashi H, Kusayama Y, Kumagai K, Saito T.

Arch Orthop Trauma Surg. 2018 Feb;138(2):259-266. doi: 10.1007/s00402-017-2837-1. Epub 2017 Nov 25.

PMID:
29177541
47.

Serum Activity of Macrophage-Derived Adenosine Deaminase 2 Is Associated With Liver Fibrosis in Nonalcoholic Fatty Liver Disease.

Jiang ZG, Sandhu B, Feldbrügge L, Yee EU, Csizmadia E, Mitsuhashi S, Huang J, Afdhal NH, Robson SC, Lai M.

Clin Gastroenterol Hepatol. 2018 Jul;16(7):1170-1172. doi: 10.1016/j.cgh.2017.11.028. Epub 2017 Nov 21. No abstract available.

48.

Distinct roles of ecto-nucleoside triphosphate diphosphohydrolase-2 (NTPDase2) in liver regeneration and fibrosis.

Feldbrügge L, Jiang ZG, Csizmadia E, Mitsuhashi S, Tran S, Yee EU, Rothweiler S, Vaid KA, Sévigny J, Schmelzle M, Popov YV, Robson SC.

Purinergic Signal. 2018 Mar;14(1):37-46. doi: 10.1007/s11302-017-9590-3. Epub 2017 Nov 13.

49.

Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy.

Mitsuhashi S, Nakagawa S, Takahashi Ueda M, Imanishi T, Frith MC, Mitsuhashi H.

Sci Rep. 2017 Nov 1;7(1):14789. doi: 10.1038/s41598-017-13712-6.

50.

Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I.

J Hum Genet. 2017 Oct;62(10):931-933. doi: 10.1038/jhg.2017.54.

PMID:
28943641

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