PMC Links for Books (Select 1463166) - PMC

Select item 100819541.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 55644183.

MED Resulting from Recessively-Inherited Mutations in the Gene Encoding Calcium-Activated Nucleotidase CANT1

Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J. Ho, Julia A. Ainsworth, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, LaDonna Immken, Ralph S. Lachman, Daniel H. Cohn

Am J Med Genet A. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Am J Med Genet A. 2017 Sep; 173(9): 2415–2421. Published online 2017 Jul 25. doi: 10.1002/ajmg.a.38349

PMCID:: PMC5564418

Abstract Article PDF–431K

Select item 45447534.

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 32722205.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

Gail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Amaka Offiah, Michael J Wright, Ravi Savarirayan, Gen Nishimura, Simon C Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl, Michael D Briggs

Hum Mutat. 2012 Jan; 33(1): 144–157. Published online 2011 Sep 15. doi: 10.1002/humu.21611

PMCID:: PMC3272220

Abstract Article PDF–428K

Select item 26704526.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Andreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, Jacky Taylor, Rob Elles, Geert R Mortier, Jurgen Spranger, Bernhard Zabel, Sheila Unger, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Michael J Wright, Luisa Bonafe, Andrea Superti-Furga, Michael D Briggs

Eur J Hum Genet. Author manuscript; available in PMC 2009 Apr 20.

Published in final edited form as: Eur J Hum Genet. 2007 Feb; 15(2): 150–154. Published online 2006 Nov 29. doi: 10.1038/sj.ejhg.5201744

PMCID:: PMC2670452

Abstract Article PDF–415K

Select item 17352627.

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

D Ballhausen, L Bonafe, P Terhal, S Unger, G Bellus, M Classen, B Hamel, J Spranger, B Zabel, D Cohn, W Cole, J Hecht, A Superti-Furga

J Med Genet. 2003 Jan; 40(1): 65–71. doi: 10.1136/jmg.40.1.65

PMCID:: PMC1735262

Summary PDF–273K

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