PMC Links for Books (Select 1462886) - PMC

Select item 101653641.

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

EMBO Mol Med. 2023 May; 15(5): e16775. Published online 2023 Apr 4. doi: 10.15252/emmm.202216775

PMCID:: PMC10165364

Article PDF–2.9M

Select item 84880212.

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Anthony R. Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T. Leach, Michael T. Bashford, Tamar Goldwaser, Emily Chen, Teresa N. Sparks, Honey V. Reddi, Aleksandar Rajkovic, Jeffrey S. Dungan, ACMG Professional Practice and Guidelines Committee

Genet Med. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1793–1806. Published online 2021 Jul 20. doi: 10.1038/s41436-021-01203-z

Correction in:: Genet Med. 2021 Oct; 23(10): 2015.

PMCID:: PMC8488021

Article PDF–643K

Select item 77766063.

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma

Angela Bononi, Keisuke Goto, Guntulu Ak, Yoshie Yoshikawa, Mitsuru Emi, Sandra Pastorino, Lorenzo Carparelli, Angelica Ferro, Masaki Nasu, Jin-Hee Kim, Joelle S. Suarez, Ronghui Xu, Mika Tanji, Yasutaka Takinishi, Michael Minaai, Flavia Novelli, Ian Pagano, Giovanni Gaudino, Harvey I. Pass, Joanna Groden, Joseph J. Grzymski, Muzaffer Metintas, Muhittin Akarsu, Betsy Morrow, Raffit Hassan, Haining Yang, Michele Carbone

Proc Natl Acad Sci U S A. 2020 Dec 29; 117(52): 33466–33473. Published online 2020 Dec 14. doi: 10.1073/pnas.2019652117

PMCID:: PMC7776606

Article PDF–1.3M

Select item 60807664.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David A. Parry, Anna H. Bizard, Andrea Leitch, Louise Cleal, Nadia Shaukat Ali, Mohammed A. Al-Owain, William Allen, Janine Altmüller, Miriam Aza-Carmona, Bushra A.Y. Barakat, Jimena Barraza-García, Amber Begtrup, Massimo Bogliolo, Megan T. Cho, Jaime Cruz-Rojo, Hassan Ali Mundi Dhahrabi, Nursel H. Elcioglu, GOSgene, Gráinne S. Gorman, Rebekah Jobling, Ian Kesterton, Yoshihito Kishita, Masakazu Kohda, Polona Le Quesne Stabej, Asam Jassim Malallah, Peter Nürnberg, Akira Ohtake, Yasushi Okazaki, Roser Pujol, Maria José Ramirez, Anya Revah-Politi, Masaru Shimura, Paul Stevens, Robert W. Taylor, Lesley Turner, Hywel Williams, Carolyn Wilson, Gökhan Yigit, Laura Zahavich, Fowzan S. Alkuraya, Jordi Surralles, Alejandro Iglesais, Kei Murayama, Bernd Wollnik, Mehul Dattani, Karen E. Heath, Ian D. Hickson, Andrew P. Jackson

Am J Hum Genet. 2018 Aug 2; 103(2): 221–231. Published online 2018 Jul 26. doi: 10.1016/j.ajhg.2018.07.001

Correction in:: Am J Hum Genet. 2018 Sep 6; 103(3): 456.

PMCID:: PMC6080766

Article PDF–1.2M

Select item 52606005.

Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition

Christopher Cunniff, Jennifer A. Bassetti, Nathan A. Ellis

Mol Syndromol. 2017 Jan; 8(1): 4–23. Published online 2016 Nov 5. doi: 10.1159/000452082

PMCID:: PMC5260600

Article PDF–320K

Select item 51579486.

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome

Damien F. Hudson, David J. Amor, Amber Boys, Kathy Butler, Lorna Williams, Tao Zhang, Paul Kalitsis

PLoS Genet. 2016 Dec; 12(12): e1006483. Published online 2016 Dec 15. doi: 10.1371/journal.pgen.1006483

PMCID:: PMC5157948

Article PDF–2.8M

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

Article PDF–960K

Select item 45387018.

DNA Helicases Associated with Genetic Instability, Cancer, and Aging

Avvaru N. Suhasini, Robert M. Brosh, Jr.

Adv Exp Med Biol. Author manuscript; available in PMC 2015 Aug 17.

Published in final edited form as: Adv Exp Med Biol. 2013; 767: 123–144. doi: 10.1007/978-1-4614-5037-5_6

PMCID:: PMC4538701

Article PDF–664K

Select item 30409829.

Human RECQ helicases: Roles in DNA metabolism, mutagenesis and cancer biology

Raymond J. Monnat, Jr.

Semin Cancer Biol. Author manuscript; available in PMC 2011 Oct 8.

Published in final edited form as: Semin Cancer Biol. 2010 Oct; 20(5): 329–339. Published online 2010 Oct 8. doi: 10.1016/j.semcancer.2010.10.002

PMCID:: PMC3040982

Article PDF–655K

Select item 191823110.

Bloom Syndrome and Maternal Uniparental Disomy for Chromosome 15

Trevor Woodage, Madhuri Prasad, Joanne W. Dixon, Roslyn E. Selby, Dennis R. Romain, Letizia M. Columbano-Green, David Graham, Peter K. Rogan, James R. Seip, Arabella Smith, Ronald J. Trent

Am J Hum Genet. 1994 Jul; 55(1): 74–80.

PMCID:: PMC1918231

Summary Page Browse PDF–1.3M

Select item 170643011.

Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.

J German

Am J Hum Genet. 1969 Mar; 21(2): 196–227.

PMCID:: PMC1706430

Summary Page Browse PDF–6.1M

Select item 137764012.

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

N A Ellis, S Ciocci, M Proytcheva, D Lennon, J Groden, J German

Am J Hum Genet. 1998 Dec; 63(6): 1685–1693. doi: 10.1086/302167

PMCID:: PMC1377640

Summary PDF–282K

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