PMC Links for Books (Select 1481962) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 54850792.

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening

M.‐L. Lovgren, M.A. McAleer, A.D. Irvine, N.J. Wilson, S. Tavadia, M.E. Schwartz, C. Cole, A. Sandilands, F.J.D. Smith, M. Zamiri

Br J Dermatol. 2017 May; 176(5): 1345–1350. Published online 2017 Apr 2. doi: 10.1111/bjd.14973

PMCID:: PMC5485079

Abstract Article PDF–760K

Select item 51320903.

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

C. Kasparis, D. Reid, N. J. Wilson, V. Okur, C. Cole, C. D. Hansen, K. Bosse, R. C. Betz, M. Khan, F. J. D. Smith

Clin Exp Dermatol. 2016 Dec; 41(8): 884–889. Published online 2016 Oct 27. doi: 10.1111/ced.12934

PMCID:: PMC5132090

Abstract Article PDF–574K

Select item 46520674.

Expanding the Phenotypic Spectrum of Olmsted Syndrome

Neil J Wilson, Christian Cole, Leonard M Milstone, Ana E Kiszewski, C David Hansen, Edel A O'Toole, Mary E Schwartz, W H Irwin McLean, Frances J D Smith

J Invest Dermatol. 2015 Nov; 135(11): 2879–2883. Prepublished online 2015 Jun 12. Published online 2015 Jul 23. doi: 10.1038/jid.2015.217

PMCID:: PMC4652067

Article PDF–1.2M

Select item 45447535.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 42820836.

The molecular genetic analysis of the expanding pachyonychia congenita case collection

NJ Wilson, EA O'Toole, LM Milstone, CD Hansen, AA Shepherd, E Al-Asadi, ME Schwartz, WHI McLean, E Sprecher, FJD Smith

Br J Dermatol. 2014 Aug; 171(2): 343–355. Published online 2014 Aug 6. doi: 10.1111/bjd.12958

PMCID:: PMC4282083

Abstract Article PDF–1.0M

Select item 38361667.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Elizabeth Pohler, Ons Mamai, Jennifer Hirst, Mozheh Zamiri, Helen Horn, Toshifumi Nomura, Alan D. Irvine, Benvon E. Moran, Neil J. Wilson, Frances J. D. Smith, Christabelle S. M Goh, Aileen Sandilands, Christian Cole, Geoffrey J. Barton, Alan T. Evans, Hiroshi Shimizu, Masashi Akiyama, Akihiro Suehiro, Izumi Konohana, Mohammad Shboul, Sebastien Teissier, Lobna Boussofara, Mohamed Denguezli, Ali Saad, Moez Gribaa, Patricia J. Dopping-Hepenstal, John A McGrath, Sara J. Brown, David R. Goudie, Bruno Reversade, Colin S. Munro, W. H. Irwin McLean

Nat Genet. Author manuscript; available in PMC 2013 Nov 21.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 10.1038/ng.2444. Published online 2012 Oct 14. doi: 10.1038/ng.2444

PMCID:: PMC3836166

Abstract Article PDF–1.2M

Select item 37755668.

Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations

Teresa Fu, Sancy A. Leachman, Neil J. Wilson, Frances J.D. Smith, Mary E. Schwartz, Jean Y. Tang

J Invest Dermatol. Author manuscript; available in PMC 2013 Sep 17.

Published in final edited form as: J Invest Dermatol. 2011 May; 131(5): 1025–1028. Published online 2010 Dec 16. doi: 10.1038/jid.2010.373

PMCID:: PMC3775566

Abstract Article PDF–339K

Select item 33091899.

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Zhimiao Lin, Quan Chen, Mingyang Lee, Xu Cao, Jie Zhang, Donglai Ma, Long Chen, Xiaoping Hu, Huijun Wang, Xiaowen Wang, Peng Zhang, Xuanzhu Liu, Liping Guan, Yiquan Tang, Haizhen Yang, Ping Tu, Dingfang Bu, Xuejun Zhu, KeWei Wang, Ruoyu Li, Yong Yang

Am J Hum Genet. 2012 Mar 9; 90(3): 558–564. doi: 10.1016/j.ajhg.2012.02.006

PMCID:: PMC3309189

Abstract Article PDF–934K

Select item 283928510.

First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder

Sancy A Leachman, Robyn P Hickerson, Mary E Schwartz, Emily E Bullough, Stephen L Hutcherson, Kenneth M Boucher, C David Hansen, Mark J Eliason, G Susan Srivatsa, Douglas J Kornbrust, Frances JD Smith, WH Irwin McLean, Leonard M Milstone, Roger L Kaspar

Mol Ther. 2010 Feb; 18(2): 442–446. Published online 2009 Nov 24. doi: 10.1038/mt.2009.273

PMCID:: PMC2839285

Abstract Article PDF–264K

Select item 258748311.

Therapeutic siRNAs for dominant genetic skin diseases including pachyonychia congenita

Sancy A. Leachman, Robyn P. Hickerson, Peter R. Hull, Frances J. D. Smith, Leonard M. Milstone, E. Birgitte Lane, Sherri J. Bale, Dennis R. Roop, W. H. Irwin McLean, Roger L. Kaspar

J Dermatol Sci. Author manuscript; available in PMC 2009 Sep 1.

Published in final edited form as: J Dermatol Sci. 2008 Sep; 51(3): 151–157. Published online 2008 May 20. doi: 10.1016/j.jdermsci.2008.04.003

PMCID:: PMC2587483

Abstract Article PDF–1.6M

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