PMC Links for Books (Select 1465454) - PMC

Select item 47319251.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45447532.

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 44634973.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Beatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, Carlos I Rivera-Pedroza, Virginia Pérez-Carrizosa, Sara Benito-Sanz, Eva López-Messa, Fernando Santos, Ignacio I García-Recuero, Ana Romance, Juliana María Ballesta-Martínez, Vanesa López-González, Ángel Campos-Barros, Jaime Cruz, Encarna Guillén-Navarro, Jaime Sánchez del Pozo, Pablo Lapunzina, Sixto García-Miñaur, Karen E Heath

Eur J Hum Genet. 2015 Jul; 23(7): 907–914. Published online 2014 Oct 1. doi: 10.1038/ejhg.2014.205

PMCID:: PMC4463497

Abstract Article PDF–666K

Select item 33437624.

Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster

H. Fryssira, P. Makrythanasis, A. Kattamis, K. Stokidis, B. Menten, K. Kosaki, P. Willems, E. Kanavakis

Mol Syndromol. 2011 Dec; 2(1): 45–49. Published online 2011 Nov 12. doi: 10.1159/000334313

PMCID:: PMC3343762

Abstract Article PDF–314K

Select item 31041315.

Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

Heather C Mefford, Neil Shafer, Francesca Antonacci, Jesse M Tsai, Sarah S Park, Anne V Hing, Mark J Rieder, Matthew D Smyth, Matthew L Speltz, Evan E Eichler, Michael L Cunningham

Am J Med Genet A. 2010 Sep; 152A(9): 2203–2210. Published online 2010 Aug 3. doi: 10.1002/ajmg.a.33557

PMCID:: PMC3104131

Abstract Article PDF–271K

Select item 26059726.

Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure

Jeannette Connerney, Viktoria Andreeva, Yael Leshem, Miguel A. Mercado, Karen Dowell, Xuehei Yang, Volkhard Lindner, Robert E. Friesel, Douglas B. Spicer

Dev Biol. Author manuscript; available in PMC 2009 Jun 15.

Published in final edited form as: Dev Biol. 2008 Jun 15; 318(2): 323–334. Published online 2008 Apr 8. doi: 10.1016/j.ydbio.2008.03.037

Correction in:: volume 366 on page 434

PMCID:: PMC2605972

Abstract Article PDF–1.1M

Select item 17125187.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

M. Muenke, K. W. Gripp, D. M. McDonald-McGinn, K. Gaudenz, L. A. Whitaker, S. P. Bartlett, R. I. Markowitz, N. H. Robin, N. Nwokoro, J. J. Mulvihill, H. W. Losken, J. B. Mulliken, A. E. Guttmacher, R. S. Wilroy, L. A. Clarke, G. Hollway, L. C. Adès, E. A. Haan, J. C. Mulley, M. M. Cohen, G. A. Bellus, C. A. Francomano, D. M. Moloney, S. A. Wall, A. O. M. Wilkie, E. H. Zackai

Am J Hum Genet. 1997 Mar; 60(3): 555–564.

PMCID:: PMC1712518

Summary Page Browse PDF–2.9M

Select item 13771348.

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

W A Paznekas, M L Cunningham, T D Howard, B R Korf, M H Lipson, A W Grix, M Feingold, R Goldberg, Z Borochowitz, K Aleck, J Mulliken, M Yin, E W Jabs

Am J Hum Genet. 1998 Jun; 62(6): 1370–1380. doi: 10.1086/301855

PMCID:: PMC1377134

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