PMC Links for Books (Select 1490766) - PMC

Select item 78206211.

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne R. Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Chung, Robin D. Clark, Timothy C. Cox, Cynthia Curry, Mary Beth Palko Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Jr., Karen W. Gripp, Chad R. Haldeman-Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler-Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda M. Mirzaa, John J. Mulvihill, Malgorzata J.M. Nowaczyk, Roberta A. Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez-Lara, Laurie H. Seaver, Joseph T. Shieh, Anne M. Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen-Hann Tan, Anne C. Tsai, David D. Weaver, Marc S. Williams, Elaine Zackai, Yuri A. Zarate

Am J Hum Genet. 2021 Jan 7; 108(1): 8–15. Published online 2021 Jan 7. doi: 10.1016/j.ajhg.2020.11.013

PMCID:: PMC7820621

Abstract Article PDF–202K

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 66282363.

Mammalian Tyrosyl-DNA Phosphodiesterases in the Context of Mitochondrial DNA Repair

Shar-yin Naomi Huang, Yves Pommier

Int J Mol Sci. 2019 Jun; 20(12): 3015. Published online 2019 Jun 20. doi: 10.3390/ijms20123015

PMCID:: PMC6628236

Abstract Article PDF–1.0M

Select item 58448794.

Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria

Hok Khim Fam, Kunho Choi, Lauren Fougner, Chinten James Lim, Cornelius F. Boerkoel

Sci Rep. 2018; 8: 4304. Published online 2018 Mar 9. doi: 10.1038/s41598-018-22547-8

PMCID:: PMC5844879

Abstract Article PDF–6.1M

Select item 45447535.

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 27904896.

Optimal function of the DNA repair enzyme TDP1 requires its phosphorylation by ATM and/or DNA-PK

Benu Brata Das, Smitha Antony, Shalu Gupta, Thomas S Dexheimer, Christophe E Redon, Susan Garfield, Yosef Shiloh, Yves Pommier

EMBO J. 2009 Dec 2; 28(23): 3667–3680. Published online 2009 Oct 22. doi: 10.1038/emboj.2009.302

PMCID:: PMC2790489

Abstract Article PDF–2.5M

Select item 20807987.

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

Ryuki Hirano, Heidrun Interthal, Cheng Huang, Tomonori Nakamura, Kimiko Deguchi, Kunho Choi, Meenakshi B Bhattacharjee, Kimiyoshi Arimura, Fujio Umehara, Shuji Izumo, Jennifer L Northrop, Mustafa A M Salih, Ken Inoue, Dawna L Armstrong, James J Champoux, Hiroshi Takashima, Cornelius F Boerkoel

EMBO J. 2007 Nov 14; 26(22): 4732–4743. Published online 2007 Oct 18. doi: 10.1038/sj.emboj.7601885