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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 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 68363653.

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers, III, Alan L. Shields

Orphanet J Rare Dis. 2019; 14: 243. Published online 2019 Nov 7. doi: 10.1186/s13023-019-1200-8

PMCID:: PMC6836365

Abstract Article PDF–1.0M

Select item 63920594.

Neutropenia in Barth syndrome: characteristics, risks and management

Colin G. Steward, Sarah J. Groves, Carolyn T. Taylor, Melissa K. Maisenbacher, Birgitta Versluys, Ruth A. Newbury-Ecob, Hulya Ozsahin, Michaela K. Damin, Valerie M. Bowen, Katherine R. McCurdy, Michael C. Mackey, Audrey A. Bolyard, David C. Dale

Curr Opin Hematol. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Curr Opin Hematol. 2019 Jan; 26(1): 6–15. doi: 10.1097/MOH.0000000000000472

PMCID:: PMC6392059

Abstract Article PDF–342K

Select item 63715255.

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding, Hilary J. Vernon

Orphanet J Rare Dis. 2019; 14: 37. Published online 2019 Feb 11. doi: 10.1186/s13023-019-1006-8

PMCID:: PMC6371525

Abstract Article PDF–1.0M

Select item 50656606.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban-Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stephanie Fox, Marjorie Withers, Stephanie M. Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Costanza Lamperti, Maria A. Donati, Joshua D. Smith, Heather M. McLaughlin, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Jill V. Hunter, Myriam Srour, Stefano Zanigni, Richard Alan Lewis, Donna M. Muzny, Timothy E. Lotze, Eric Boerwinkle, Baylor-Hopkins Center for Mendelian Genomics, University of Washington Center for Mendelian Genomics, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhas, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski

Am J Hum Genet. 2016 Oct 6; 99(4): 831–845. Published online 2016 Sep 15. doi: 10.1016/j.ajhg.2016.08.007

PMCID:: PMC5065660

Abstract Article PDF–3.4M

Select item 43410147.

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Ann Bowron, Julie Honeychurch, Maggie Williams, Beverley Tsai-Goodman, Nicol Clayton, Lucy Jones, Graham J. Shortland, Shakeel A. Qureshi, Simon J. R. Heales, Colin G. Steward

J Inherit Metab Dis. 2015; 38(2): 279–286. Published online 2014 Aug 12. doi: 10.1007/s10545-014-9747-y

Correction in:: J Inherit Metab Dis. 2016; 39: 151.

PMCID:: PMC4341014

Abstract Article PDF–652K

Select item 37507458.

Left ventricular noncompaction in Duchenne muscular dystrophy

Christopher J Statile, Michael D Taylor, Wojciech Mazur, Linda H Cripe, Eileen King, Jesse Pratt, D Woodrow Benson, Kan N Hor

J Cardiovasc Magn Reson. 2013; 15(1): 67. Published online 2013 Aug 1. doi: 10.1186/1532-429X-15-67

PMCID:: PMC3750745

Abstract Article PDF–1.5M

Select item 36567839.

Natural history of Barth syndrome: a national cohort study of 22 patients

Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli, Helene Ansquer, Hulya Ozsahin, Sylvie Di Filippo, Pascale De Lonlay, Betina Borm, Francois Rivier, Marie-Catherine Vaillant, Michèle Mathieu-Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlene Rio, Damien Bonnet, Jean Donadieu

Orphanet J Rare Dis. 2013; 8: 70. Published online 2013 May 8. doi: 10.1186/1750-1172-8-70

PMCID:: PMC3656783

Abstract Article PDF–420K

Select item 359936710.

New clinical and molecular insights on Barth syndrome

Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini, Amelia Morrone

Orphanet J Rare Dis. 2013; 8: 27. Published online 2013 Feb 14. doi: 10.1186/1750-1172-8-27

PMCID:: PMC3599367

Abstract Article PDF–957K

Select item 358370411.

Barth syndrome

Sarah LN Clarke, Ann Bowron, Iris L Gonzalez, Sarah J Groves, Ruth Newbury-Ecob, Nicol Clayton, Robin P Martin, Beverly Tsai-Goodman, Vanessa Garratt, Michael Ashworth, Valerie M Bowen, Katherine R McCurdy, Michaela K Damin, Carolyn T Spencer, Matthew J Toth, Richard I Kelley, Colin G Steward

Orphanet J Rare Dis. 2013; 8: 23. Published online 2013 Feb 12. doi: 10.1186/1750-1172-8-23

PMCID:: PMC3583704

Abstract Article PDF–2.2M

Select item 348338412.

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle

Diti Ronvelia, Jaclyn Greenwood, Julia Platt, Simin Hakim, Michael V. Zaragoza

Mol Genet Metab. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Mol Genet Metab. 2012 Nov; 107(3): 428–432. Published online 2012 Sep 18. doi: 10.1016/j.ymgme.2012.09.013

PMCID:: PMC3483384

Abstract Article PDF–1.6M

Select item 338365513.

A Mixed-methods Investigation of Sensory Response Patterns in Barth Syndrome: A Clinical Phenotype?

Stacey Reynolds, Consuelo Kreider, Roxanna Bendixen

Am J Med Genet A. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Am J Med Genet A. 2012 Jul; 158A(7): 1647–1653. doi: 10.1002/ajmg.a.35413

PMCID:: PMC3383655

Abstract Article PDF–50K

Select item 299530914.

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

C G Steward, R A Newbury-Ecob, R Hastings, S F Smithson, B Tsai-Goodman, O W Quarrell, W Kulik, R Wanders, M Pennock, M Williams, J L Cresswell, I L Gonzalez, P Brennan

Prenat Diagn. 2010 Oct; 30(10): 970–976. doi: 10.1002/pd.2599