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Items: 1 to 20 of 8345


Bayesian approach to determining penetrance of pathogenic SDH variants.

Benn DE, Zhu Y, Andrews KA, Wilding M, Duncan EL, Dwight T, Tothill RW, Burgess J, Crook A, Gill AJ, Hicks RJ, Kim E, Luxford C, Marfan H, Richardson AL, Robinson B, Schlosberg A, Susman R, Tacon L, Trainer A, Tucker K, Maher ER, Field M, Clifton-Bligh RJ.

J Med Genet. 2018 Sep 10. pii: jmedgenet-2018-105427. doi: 10.1136/jmedgenet-2018-105427. [Epub ahead of print]


Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.

Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS.

J Med Genet. 2018 Sep 7. pii: jmedgenet-2018-105484. doi: 10.1136/jmedgenet-2018-105484. [Epub ahead of print]


Significance of non-coding circular RNAs and micro RNAs in the pathogenesis of cardiovascular diseases.

Zhao G.

J Med Genet. 2018 Sep 3. pii: jmedgenet-2018-105387. doi: 10.1136/jmedgenet-2018-105387. [Epub ahead of print]


Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.

Lv T, Zhang W, Xu A, Li Y, Zhou D, Zhang B, Li X, Zhao X, Wang Y, Wang X, Duan W, Wang Q, Xu H, Zheng J, Zhao R, Zhu L, Dong Y, Lu L, Chen Y, Long J, Zheng S, Wang W, You H, Jia J, Ou X, Huang J.

J Med Genet. 2018 Aug 30. pii: jmedgenet-2018-105348. doi: 10.1136/jmedgenet-2018-105348. [Epub ahead of print]


Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Galván-Femenía I, Obón-Santacana M, Piñeyro D, Guindo-Martinez M, Duran X, Carreras A, Pluvinet R, Velasco J, Ramos L, Aussó S, Puig L, Perucho M, Torrents D, Moreno V, Sumoy L, de Cid R.

J Med Genet. 2018 Aug 30. pii: jmedgenet-2018-105437. doi: 10.1136/jmedgenet-2018-105437. [Epub ahead of print]


Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B, Brockmann K.

J Med Genet. 2018 Aug 17. pii: jmedgenet-2018-105470. doi: 10.1136/jmedgenet-2018-105470. [Epub ahead of print]


Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM.

J Med Genet. 2018 Aug 17. pii: jmedgenet-2018-105441. doi: 10.1136/jmedgenet-2018-105441. [Epub ahead of print]


Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).

Wang K, Zhao S, Liu B, Zhang Q, Li Y, Liu J, Shen Y, Ding X, Lin J, Wu Y, Yan Z, Chen J, Li X, Song X, Niu Y, Liu J, Chen W, Ming Y, Du R, Chen C, Long B, Zhang Y, Tong X, Zhang S, Posey JE, Zhang B, Wu Z, Wythe JD, Liu P, Lupski JR, Yang X, Wu N.

J Med Genet. 2018 Aug 17. pii: jmedgenet-2017-105224. doi: 10.1136/jmedgenet-2017-105224. [Epub ahead of print]


Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S.

J Med Genet. 2018 Aug 17. pii: jmedgenet-2018-105364. doi: 10.1136/jmedgenet-2018-105364. [Epub ahead of print]


Global microarray profiling identified hsa_circ_0064428 as a potential immune-associated prognosis biomarker for hepatocellular carcinoma.

Weng Q, Chen M, Li M, Zheng YF, Shao G, Fan W, Xu XM, Ji J.

J Med Genet. 2018 Aug 17. pii: jmedgenet-2018-105440. doi: 10.1136/jmedgenet-2018-105440. [Epub ahead of print]


Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening.

Ong R, Howting D, Rea A, Christian H, Charman P, Molster C, Ravenscroft G, Laing NG.

J Med Genet. 2018 Aug 1. pii: jmedgenet-2018-105362. doi: 10.1136/jmedgenet-2018-105362. [Epub ahead of print]


Use of zebrafish models to investigate rare human disease.

Adamson KI, Sheridan E, Grierson AJ.

J Med Genet. 2018 Jul 31. pii: jmedgenet-2018-105358. doi: 10.1136/jmedgenet-2018-105358. [Epub ahead of print]


Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.

Zhou B, Ho SS, Zhang X, Pattni R, Haraksingh RR, Urban AE.

J Med Genet. 2018 Jul 30. pii: jmedgenet-2018-105272. doi: 10.1136/jmedgenet-2018-105272. [Epub ahead of print]


Mutations in IRS4 are associated with central hypothyroidism.

Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E.

J Med Genet. 2018 Jul 30. pii: jmedgenet-2017-105113. doi: 10.1136/jmedgenet-2017-105113. [Epub ahead of print]


Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

Mestek-Boukhibar L, Clement E, Jones WD, Drury S, Ocaka L, Gagunashvili A, Le Quesne Stabej P, Bacchelli C, Jani N, Rahman S, Jenkins L, Hurst JA, Bitner-Glindzicz M, Peters M, Beales PL, Williams HJ.

J Med Genet. 2018 Jul 26. pii: jmedgenet-2018-105396. doi: 10.1136/jmedgenet-2018-105396. [Epub ahead of print]


XRCC2 mutation causes meiotic arrest, azoospermia and infertility.

Yang Y, Guo J, Dai L, Zhu Y, Hu H, Tan L, Chen W, Liang D, He J, Tu M, Wang K, Wu L.

J Med Genet. 2018 Sep;55(9):628-636. doi: 10.1136/jmedgenet-2017-105145. Epub 2018 Jul 24.


Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.

McCuaig JM, Stockley TL, Shaw P, Fung-Kee-Fung M, Altman AD, Bentley J, Bernardini MQ, Cormier B, Hirte H, Kieser K, MacMillan A, Meschino WS, Panabaker K, Perrier R, Provencher D, Schrader KA, Serfas K, Tomiak E, Wong N, Young SS, Gotlieb WH, Hoskins P, Kim RH; BRCA TtoT Community of Practice.

J Med Genet. 2018 Sep;55(9):571-577. doi: 10.1136/jmedgenet-2018-105472. Epub 2018 Jul 24.


Bacteria-free minicircle DNA system to generate integration-free CAR-T cells.

Cheng C, Tang N, Li J, Cao S, Zhang T, Wei X, Wang H.

J Med Genet. 2018 Jul 20. pii: jmedgenet-2018-105405. doi: 10.1136/jmedgenet-2018-105405. [Epub ahead of print]


Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.

Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Hon-Yin Chung B.

J Med Genet. 2018 Jul 14. pii: jmedgenet-2018-105328. doi: 10.1136/jmedgenet-2018-105328. [Epub ahead of print]


Exosomes derived from exhausted CD8+ T cells impaired the anticancer function of normal CD8+ T cells.

Wang X, Shen H, He Q, Tian W, Xia A, Lu XJ.

J Med Genet. 2018 Jul 11. pii: jmedgenet-2018-105439. doi: 10.1136/jmedgenet-2018-105439. [Epub ahead of print]


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