PMC Links for Books (Select 4788570) - 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

Article PDF–776K

Select item 60663602.

Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy

Carola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors

Neurol Genet. 2018 Aug; 4(4): e254. Published online 2018 Jul 23. doi: 10.1212/NXG.0000000000000254

PMCID:: PMC6066360

Article PDF–703K

Select item 58589503.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

Neurol Genet. 2018 Apr; 4(2): e226. Published online 2018 Mar 19. doi: 10.1212/NXG.0000000000000226

PMCID:: PMC5858950

Article PDF–388K

Select item 58431894.

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins, Carlos E. Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andres Dufke, Gunnar Houge, Jeske J.T. van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C. Engle, Moebius Syndrome Research Consortium, Ethylin Wang Jabs, David Valle, John Carey, Julie E. Hoover-Fong, Nara L.M. Sobreira

Am J Med Genet A. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Am J Med Genet A. 2017 Oct; 173(10): 2763–2771. Published online 2017 Aug 4. doi: 10.1002/ajmg.a.38375

PMCID:: PMC5843189

Article PDF–447K

Select item 55042965.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle

Nat Commun. 2017; 8: 16077. Published online 2017 Jul 6. doi: 10.1038/ncomms16077

PMCID:: PMC5504296

Article PDF–3.1M

Select item 52348656.

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, James J. Dowling, Kathryn North, Mary K. Schroth, Thomas Sejersen, Frederic Shapiro, Jonathan Bellini, Hali Weiss, Marc Guillet, Kimberly Amburgey, Susan Apkon, Enrico Bertini, Carsten Bonnemann, Nigel Clarke, Anne M. Connolly, Brigitte Estournet-Mathiaud, Dominic Fitzgerald, Julaine M. Florence, Richard Gee, Juliana Gurgel-Giannetti, Allan M. Glanzman, Brittany Hofmeister, Heinz Jungbluth, Anastassios C. Koumbourlis, Nigel G. Laing, Marion Main, Leslie A. Morrison, Craig Munns, Kristy Rose, Pamela M. Schuler, Caroline Sewry, Kari Storhaug, Mariz Vainzof, Nanci Yuan

J Child Neurol. Author manuscript; available in PMC 2017 Jan 13.

Published in final edited form as: J Child Neurol. 2012 Mar; 27(3): 363–382. doi: 10.1177/0883073812436605

PMCID:: PMC5234865

Article PDF–424K

Select item 46480257.

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G. Jansen, Manvendra K. Singh, Jonathan A. Epstein, Umut Altunoglu, Harriette Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P. M. de Brouwer, Corrie Erasmus, Dirk Schubert, Han Brunner, Antonio Pérez Aytés, Faustino Marin, Pilar Aroca, Hülya Kayserili, Arturo Carta, Niels de Wind, George W. Padberg, Hans van Bokhoven

Nat Commun. 2015; 6: 7199. Published online 2015 Jun 12. doi: 10.1038/ncomms8199

PMCID:: PMC4648025

Article PDF–1.9M

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

Article PDF–960K

Select item 40560239.

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

Eric J. Horstick, Jeremy W. Linsley, James J. Dowling, Michael A. Hauser, Kristin K. McDonald, Allison Ashley-Koch, Louis Saint-Amant, Akhila Satish, Wilson W. Cui, Weibin Zhou, Shawn M. Sprague, Demetra S. Stamm, Cynthia M. Powell, Marcy C. Speer, Clara Franzini-Armstrong, Hiromi Hirata, John Y. Kuwada

Nat Commun. Author manuscript; available in PMC 2014 Jun 13.

Published in final edited form as: Nat Commun. 2013; 4: 1952. doi: 10.1038/ncomms2952

PMCID:: PMC4056023

Article PDF–1.4M

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