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Select item 40654371.

Orodental findings in postaxial acrofacial dysostosis

Aadithya B Urs, Priya Kumar, Kalpana Nunia

J Oral Maxillofac Pathol. 2014 Jan-Apr; 18(1): 149. doi: 10.4103/0973-029X.131947

PMCID:: PMC4065437

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Select item 34977302.

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

JingXian Fang, Takeshi Uchiumi, Mikako Yagi, Shinya Matsumoto, Rie Amamoto, Toshiro Saito, Shinya Takazaki, Tomotake Kanki, Haruyoshi Yamaza, Kazuaki Nonaka, Dongchon Kang

Biosci Rep. 2012 Dec 1; 32(6): 631–639. Prepublished online 2012 Sep 11. Published online 2012 Oct 19. doi: 10.1042/BSR20120046

PMCID:: PMC3497730

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Select item 10170573.

Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.

A L Ogilvy-Stuart, A C Parsons

J Med Genet. 1991 Oct; 28(10): 695–700. doi: 10.1136/jmg.28.10.695

PMCID:: PMC1017057

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Select item 10157984.

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

J Vigneron, M Stricker, P Vert, J M Rousselot, M Levy

J Med Genet. 1991 Sep; 28(9): 636–638. doi: 10.1136/jmg.28.9.636

PMCID:: PMC1015798

Summary Page Browse PDF–673K Cite

Select item 100673615.

Clinical and genomic features of non‐small cell lung cancer occurring in families

Shingo Miyabe, Shin Ito, Ikuro Sato, Jiro Abe, Keiichi Tamai, Mai Mochizuki, Haruna Fujimori, Kazunori Yamaguchi, Norihisa Shindo, Hiroshi Shima, Tomoko Yamazaki, Makoto Abue, Yoshinori Okada, Jun Yasuda

Thorac Cancer. 2023 Apr; 14(10): 940–952. Published online 2023 Mar 3. doi: 10.1111/1759-7714.14825

PMCID:: PMC10067361

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Select item 83546126.

Nucleotide stress responses in neural crest cell fate and melanoma

Audrey Sporrij, Leonard I. Zon

Cell Cycle. 2021; 20(15): 1455–1467. Published online 2021 Jul 19. doi: 10.1080/15384101.2021.1947567

PMCID:: PMC8354612

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Select item 38701977.

Facial Dysostoses: Etiology, Pathogenesis and Management

Paul A. Trainor, Brian T. Andrews

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2013 Nov; 163(4): 10.1002/ajmg.c.31375. Published online 2013 Oct 4. doi: 10.1002/ajmg.c.31375

PMCID:: PMC3870197

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Select item 36655498.

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

Hannah Carter, Christopher Douville, Peter D Stenson, David N Cooper, Rachel Karchin

BMC Genomics. 2013; 14(Suppl 3): S3. Published online 2013 May 28. doi: 10.1186/1471-2164-14-S3-S3

PMCID:: PMC3665549

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Select item 35640359.

Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction

JingXian Fang, Takeshi Uchiumi, Mikako Yagi, Shinya Matsumoto, Rie Amamoto, Shinya Takazaki, Haruyoshi Yamaza, Kazuaki Nonaka, Dongchon Kang

Biosci Rep. 2013; 33(2): e00021. Prepublished online 2012 Dec 7. Published online 2013 Feb 5. doi: 10.1042/BSR20120097

PMCID:: PMC3564035

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Select item 342631310.

Informed Consent for Whole Genome Sequencing: A Qualitative Analysis of Participant Expectations and Perceptions of Risks, Benefits, and Harms

Holly K. Tabor, Jacquie Stock, Tracy Brazg., Margaret J. McMillin, Karin M. Dent., Joon-Ho Yu, Jay Shendure, Michael J. Bamshad

Am J Med Genet A. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Am J Med Genet A. 2012 Jun; 158A(6): 1310–1319. Published online 2012 Apr 24. doi: 10.1002/ajmg.a.35328

PMCID:: PMC3426313

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Select item 323437711.

Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications

Iuliana Ionita-Laza, Vlad Makarov, Seungtai Yoon, Benjamin Raby, Joseph Buxbaum, Dan L. Nicolae, Xihong Lin

Am J Hum Genet. 2011 Dec 9; 89(6): 701–712. doi: 10.1016/j.ajhg.2011.11.003

PMCID:: PMC3234377

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Select item 303728012.

Analysis of Genetic Inheritance in a Family Quartet by Whole Genome Sequencing

Jared C. Roach, Gustavo Glusman, Arian F.A. Smit, Chad D. Huff, Robert Hubley, Paul T. Shannon, Lee Rowen, Krishna P. Pant, Nathan Goodman, Michael Bamshad, Jay Shendure, Radoje Drmanac, Lynn B. Jorde, Leroy Hood, David J. Galas

Science. Author manuscript; available in PMC 2011 Feb 10.

Published in final edited form as: Science. 2010 Apr 30; 328(5978): 636–639. Published online 2010 Mar 10. doi: 10.1126/science.1186802

PMCID:: PMC3037280

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Select item 284788913.

Exome sequencing identifies the cause of a Mendelian disorder

Sarah B. Ng, Kati J. Buckingham, Choli Lee, Abigail W. Bigham, Holly K. Tabor, Karin M. Dent, Chad D. Huff, Paul T. Shannon, Ethylin Wang Jabs, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad

Nat Genet. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Nat Genet. 2010 Jan; 42(1): 30–35. Published online 2009 Nov 13. doi: 10.1038/ng.499

PMCID:: PMC2847889

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Select item 1033727214.

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population

Kai Yang, Li‐Man Fu, Xiao‐Yang Chu, Jing Zhang, Wen‐Qi Chen, You‐Sheng Yan, Yi‐Peng Wang, Dong‐Liang Zhang, Cheng‐Hong Yin, Qing Guo

Mol Genet Genomic Med. 2023 Jul; 11(7): e2186. Published online 2023 Apr 30. doi: 10.1002/mgg3.2186

PMCID:: PMC10337272

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Select item 768679415.

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer

Front Genet. 2020; 11: 580477. Published online 2020 Nov 11. doi: 10.3389/fgene.2020.580477