Similar articles for PMID: 20220176

Year	Number of Results
1948	1
1977	1
1982	1
1988	1
1996	1
2000	1
2001	2
2002	1
2003	1
2004	1
2009	4
2010	4
2011	7
2012	7
2013	3
2014	3
2015	5
2016	3
2020	2
2024	0

1

Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Roach JC, et al. Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10. Science. 2010. PMID: 20220176 Free PMC article.

2

Miller syndrome with novel dihydroorotate dehydrogenase gene mutations.

Kinoshita F, Kondoh T, Komori K, Matsui T, Harada N, Yanai A, Fukuda M, Morifuji K, Matsumoto T. Kinoshita F, et al. Pediatr Int. 2011 Aug;53(4):587-91. doi: 10.1111/j.1442-200X.2010.03303.x. Pediatr Int. 2011. PMID: 21851494 No abstract available.

3

Finding disease variants in Mendelian disorders by using sequence data: methods and applications.

Ionita-Laza I, Makarov V, Yoon S, Raby B, Buxbaum J, Nicolae DL, Lin X. Ionita-Laza I, et al. Am J Hum Genet. 2011 Dec 9;89(6):701-12. doi: 10.1016/j.ajhg.2011.11.003. Epub 2011 Dec 1. Am J Hum Genet. 2011. PMID: 22137099 Free PMC article.

4

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium; Hall DA, Dell SD, Kim RH. Marshall CR, et al. G3 (Bethesda). 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851. G3 (Bethesda). 2015. PMID: 26139845 Free PMC article.

5

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, Gardiner RM, Antonarakis SE. Bartoloni L, et al. Genomics. 2001 Feb 15;72(1):21-33. doi: 10.1006/geno.2000.6462. Genomics. 2001. PMID: 11247663

6

Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.

Duley JA, Henman MG, Carpenter KH, Bamshad MJ, Marshall GA, Ooi CY, Wilcken B, Pinner JR. Duley JA, et al. Mol Genet Metab. 2016 Sep;119(1-2):83-90. doi: 10.1016/j.ymgme.2016.06.008. Epub 2016 Jun 14. Mol Genet Metab. 2016. PMID: 27370710

7

Exome sequencing identifies the cause of a mendelian disorder.

Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Ng SB, et al. Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13. Nat Genet. 2010. PMID: 19915526 Free PMC article.

8

Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.

Fang J, Uchiumi T, Yagi M, Matsumoto S, Amamoto R, Saito T, Takazaki S, Kanki T, Yamaza H, Nonaka K, Kang D. Fang J, et al. Biosci Rep. 2012 Dec;32(6):631-9. doi: 10.1042/BSR20120046. Biosci Rep. 2012. PMID: 22967083 Free PMC article.

9

Exome sequencing makes medical genomics a reality.

Biesecker LG. Biesecker LG. Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13. Nat Genet. 2010. PMID: 20037612

10

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.

Xu J, Wu J, Teng X, Cai L, Yuan H, Chen X, Hu M, Wang X, Jiang N, Chen H. Xu J, et al. Am J Med Genet A. 2020 Sep;182(9):2117-2123. doi: 10.1002/ajmg.a.61757. Epub 2020 Jul 14. Am J Med Genet A. 2020. PMID: 32662247

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