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Items: 10

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

Article PDF–776K

Select item 62246342.

Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?

Judy Savige

Kidney Int Rep. 2018 Nov; 3(6): 1239–1241. Published online 2018 Aug 22. doi: 10.1016/j.ekir.2018.08.002

PMCID:: PMC6224634

Article PDF–147K

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

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

Article PDF–960K

Select item 42433435.

Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Said Lebbah, Alexandra Topa, Christine Bole-Feysot, Solenn Pruvost, Patrick Nitschke, Emmanuelle Plaisier, Bertrand Knebelmann, Marie-Alice Macher, Laure-Hélène Noel, Marie-Claire Gubler, Corinne Antignac, Laurence Heidet

J Am Soc Nephrol. 2014 Dec; 25(12): 2740–2751. Published online 2014 May 22. doi: 10.1681/ASN.2013080912