PMC Links for Books (Select 4742984) - PMC

Select item 59039521.

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Valerie K. Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J. Wapner, Tugce B. Balci, Melissa T. Carter, John A. Bernat, Amanda N. Moccia, Anshika Srivastava, Donna M. Martin, Stephanie L. Bielas, John Pappas, Melissa D. Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M. Lewis, Fernando Scaglia, Undiagnosed Diseases Network, Jennefer N. Kohler, Jonathan A. Bernstein, Annika M. Dries, Jill A. Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H. Sherr, Weimin Bi, Daryl A. Scott

Hum Mutat. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Hum Mutat. 2018 May; 39(5): 666–675. Published online 2018 Jan 25. doi: 10.1002/humu.23400

PMCID:: PMC5903952

Abstract Article PDF–212K

Select item 48634732.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Brieana Fregeau, Bum Jun Kim, Andrés Hernández-García, Valerie K. Jordan, Megan T. Cho, Rhonda E. Schnur, Kristin G. Monaghan, Jane Juusola, Jill A. Rosenfeld, Elizabeth Bhoj, Elaine H. Zackai, Stephanie Sacharow, Kristin Barañano, Daniëlle G.M. Bosch, Bert B.A. de Vries, Kristin Lindstrom, Audrey Schroeder, Philip James, Peggy Kulch, Seema R. Lalani, Mieke M. van Haelst, Koen L.I. van Gassen, Ellen van Binsbergen, A. James Barkovich, Daryl A. Scott, Elliott H. Sherr

Am J Hum Genet. 2016 May 5; 98(5): 963–970. Published online 2016 Apr 14. doi: 10.1016/j.ajhg.2016.03.002

PMCID:: PMC4863473

Abstract Article PDF–839K

Select item 47319253.

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 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

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