PMC Links for Books (Select 1459844) - 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

Abstract Article PDF–776K

Select item 81860282.

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy

Debra S. Regier, Richard L. Proia, Alessandra D’Azzo, Cynthia J. Tifft

Pediatr Endocrinol Rev. Author manuscript; available in PMC 2021 Jun 8.

Published in final edited form as: Pediatr Endocrinol Rev. 2016 Jun; 13(Suppl 1): 663–673.

PMCID:: PMC8186028

Abstract Article PDF–1024K

Select item 74972893.

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 71763004.

Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis

Christopher D. Stephen, David Balkwill, Peter James, Elizabeth Haxton, Kenneth Sassower, Jeremy D. Schmahmann, Florian Eichler, Richard Lewis

Neurology. 2020 Feb 18; 94(7): e705–e717. doi: 10.1212/WNL.0000000000008959

PMCID:: PMC7176300

Abstract Article PDF–860K

Select item 66878605.

Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort

Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid

Mol Genet Genomic Med. 2019 Aug; 7(8): e836. Published online 2019 Jul 10. doi: 10.1002/mgg3.836

PMCID:: PMC6687860

Abstract Article PDF–1.1M

Select item 58323556.

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study

Igor Nestrasil, Alia Ahmed, Josephine M. Utz, Kyle Rudser, Chester B. Whitley, Jeanine R. Jarnes-Utz

Mol Genet Metab. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Mol Genet Metab. 2018 Feb; 123(2): 97–104. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.432

PMCID:: PMC5832355

Abstract Article PDF–2.9M

Select item 45447537.

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 38655938.

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening

Jodi D Hoffman, Valerie Greger, Erin T Strovel, Miriam G Blitzer, Mark A Umbarger, Caleb Kennedy, Brian Bishop, Patrick Saunders, Gregory J Porreca, Jaclyn Schienda, Jocelyn Davie, Stephanie Hallam, Charles Towne

Mol Genet Genomic Med. 2013 Nov; 1(4): 260–268. Published online 2013 Sep 16. doi: 10.1002/mgg3.37