PMC Links for Books (Select 1477248) - PMC

Select item 91889871.

Clinical and Genetic Studies of Thiamine Metabolism Dysfunction Syndrome 4: Case Series and Review of the Literature

M. Bahadir Samur, Gulsum Gumus, Mehmet Canpolat, Hakan Gumus, Huseyin Per, Ahmet Okay Caglayan

Clin Dysmorphol. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Clin Dysmorphol. 2022 Jul 1; 31(3): 125–131. Published online 2022 Jan 31. doi: 10.1097/MCD.0000000000000411

PMCID:: PMC9188987

Abstract Article PDF–542K

Select item 78206212.

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 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 68864764.

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4

Roberta Bottega, Maria D. Perrone, Katy Vecchiato, Andrea Taddio, Subrata Sabui, Vanna Pecile, Hamid M. Said, Flavio Faletra

J Hum Genet. Author manuscript; available in PMC 2019 Dec 2.

Published in final edited form as: J Hum Genet. 2019 Nov; 64(11): 1075–1081. Published online 2019 Sep 11. doi: 10.1038/s10038-019-0666-5

PMCID:: PMC6886476

Abstract Article PDF–812K

Select item 64672655.

Mitochondrial Disease Genetics Update Recent insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease

Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Marni J. Falk

Curr Opin Pediatr. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Curr Opin Pediatr. 2018 Dec; 30(6): 714–724. doi: 10.1097/MOP.0000000000000686

PMCID:: PMC6467265

Abstract Article PDF–106K

Select item 63313556.

Organic acid disorders

Jessica Ramsay, Jacob Morton, Marie Norris, Shibani Kanungo

Ann Transl Med. 2018 Dec; 6(24): 472. doi: 10.21037/atm.2018.12.39

PMCID:: PMC6331355

Abstract Article PDF–668K

Select item 58954607.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W L Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon D Dell, Priya Dhir, James J Dowling, Elise Heon, Stacy Hewson, Linda Hiraki, Michal Inbar-Feigenberg, Regan Klatt, Jonathan Kronick, Ronald M Laxer, Christoph Licht, Heather MacDonald, Saadet Mercimek-Andrews, Roberto Mendoza-Londono, Tino Piscione, Rayfel Schneider, Andreas Schulze, Earl Silverman, Komudi Siriwardena, O Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J Szego, Robin Z Hayeems, Raveen Basran, Dimitri J Stavropoulos, Peter N Ray, Sarah Bowdin, M Stephen Meyn, Ronald D Cohn, Stephen W Scherer, Christian R Marshall

Genet Med. 2018 Apr; 20(4): 435–443. Published online 2017 Aug 3. doi: 10.1038/gim.2017.119

PMCID:: PMC5895460

Abstract Article PDF–224K

Select item 45447538.

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 15953109.

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia

Marjorie J. Lindhurst, Giuseppe Fiermonte, Shiwei Song, Eduard Struys, Francesco De Leonardis, Pamela L. Schwartzberg, Amy Chen, Alessandra Castegna, Nanda Verhoeven, Christopher K. Mathews, Ferdinando Palmieri, Leslie G. Biesecker

Proc Natl Acad Sci U S A. 2006 Oct 24; 103(43): 15927–15932. Published online 2006 Oct 11. doi: 10.1073/pnas.0607661103

PMCID:: PMC1595310

Abstract Article PDF–741K

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