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Select item 45918871.

Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis

Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath

Tex Heart Inst J. 2015 Oct; 42(5): 458–461. Published online 2015 Oct 1. doi: 10.14503/THIJ-14-4256

PMCID:: PMC4591887

Abstract Article PDF–934K

Select item 55614942.

Psychiatric and Cognitive Characteristics of Individuals with Danon Disease (LAMP2 Gene Mutation)

Maya Yardeni, Omri Weisman, Hanna Mandel, Ronnie Weinberger, Giovanni Quarta, Joel Salazar-Mendiguchía, Pablo Garcia-Pavia, Maria José Lobato-Rodríguez, Lourdes Fajardo Simon, Freimark Dov, Michael Arad, Doron Gothelf

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

Published in final edited form as: Am J Med Genet A. 2017 Sep; 173(9): 2461–2466. Published online 2017 Jun 19. doi: 10.1002/ajmg.a.38320

PMCID:: PMC5561494

Abstract Article PDF–104K

Select item 53931463.

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Helen M. Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai-Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic, Pirjo Isohanni, Seppo Kaakkola, Mari Auranen, Tuula Lönnqvist, Sjoerd Wanrooij, Henna Tyynismaa

Hum Mol Genet. 2017 Apr 15; 26(8): 1432–1443. Published online 2017 Jan 31. doi: 10.1093/hmg/ddx042

PMCID:: PMC5393146

Abstract Article PDF–910K

Select item 51018364.

A Rasopathy Phenotype With Severe Congenital Hypertrophic Obstructive Cardiomyopathy Associated With a PTPN11 Mutation and a Novel Variant in SOS1

Jill A. Fahrner, Aisha Frazier, Suha Bachir, Michael F. Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M. Murphy, Meral Gunay-Aygun

Am J Med Genet A. Author manuscript; available in PMC 2016 Nov 9.

Published in final edited form as: Am J Med Genet A. 2012 Jun; 158A(6): 1414–1421. Published online 2012 May 14. doi: 10.1002/ajmg.a.35363

PMCID:: PMC5101836

Abstract Article PDF–488K

Select item 50656605.

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 50299666.

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

Massimiliano Cecconi, Maria I. Parodi, Francesco Formisano, Paolo Spirito, Camillo Autore, Maria B. Musumeci, Stefano Favale, Cinzia Forleo, Claudio Rapezzi, Elena Biagini, Sabrina Davì, Elisabetta Canepa, Loredana Pennese, Mauro Castagnetta, Dario Degiorgio, Domenico A. Coviello, Collaborative Working Group

Int J Mol Med. 2016 Oct; 38(4): 1111–1124. Published online 2016 Sep 7. doi: 10.3892/ijmm.2016.2732

PMCID:: PMC5029966

Abstract Article PDF–890K

Select item 49108167.

High Incidence of Progressive Postnatal Cerebellar Enlargement in Costello Syndrome: Brain Overgrowth Associated with HRAS Mutations as the Likely Cause of Structural Brain and Spinal Cord Abnormalities

Karen W. Gripp, Elisabeth Hopkins, Daniel Doyle, William B. Dobyns

Am J Med Genet A. Author manuscript; available in PMC 2016 Jun 16.

Published in final edited form as: Am J Med Genet A. 2010 May; 152A(5): 1161–1168. doi: 10.1002/ajmg.a.33391

PMCID:: PMC4910816

Abstract Article PDF–709K

Select item 48589868.

Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes

Samantha Swenson, Andrew Cannon, Nicholas J. Harris, Nicholas G. Taylor, Jennifer L. Fox, Oleh Khalimonchuk

J Biol Chem. 2016 May 6; 291(19): 10411–10425. Published online 2016 Mar 3. doi: 10.1074/jbc.M115.707539

PMCID:: PMC4858986

Abstract Article PDF–3.2M

Select item 45980619.

Rapidly Progressive Hypertrophic Cardiomyopathy in an Infant with Noonan syndrome with multiple Lentigines. Palliative Treatment with a Rapamycin Analog

Andreas Hahn, Jessica Lauriol, Josef Thul, Kachina Behnke-Hall, Tushiha Logeswaran, Anne Schänzer, Nuray Böğürcü, Boyan K. Garvalov, Martin Zenker, Bruce D. Gelb, Susanne von Gerlach, Reinhard Kandolf, Maria I. Kontaridis, Dietmar Schranz

Am J Med Genet A. Author manuscript; available in PMC 2015 Oct 8.

Published in final edited form as: Am J Med Genet A. 2015 Apr; 0(4): 744–751. Published online 2015 Feb 23. doi: 10.1002/ajmg.a.36982

PMCID:: PMC4598061

Abstract Article PDF–1.4M

Select item 570506010.

AMP-activated protein kinase: a key regulator of energy balance with many roles in human disease

D. Grahame Hardie

J Intern Med. Author manuscript; available in PMC 2017 Nov 28.

Published in final edited form as: J Intern Med. 2014 Dec; 276(6): 543–559. Published online 2014 May 27. doi: 10.1111/joim.12268

PMCID:: PMC5705060

Abstract Article PDF–1.7M

Select item 440752011.

Heart Failure: Advanced Development in Genetics and Epigenetics

Jian Yang, Wei-wei Xu, Shen-jiang Hu

Biomed Res Int. 2015; 2015: 352734. Published online 2015 Apr 9. doi: 10.1155/2015/352734

PMCID:: PMC4407520

Abstract Article PDF–582K

Select item 434580812.

Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

Luis R Lopes, Petros Syrris, Oliver P Guttmann, Constantinos O'Mahony, Hak Chiaw Tang, Chrysoula Dalageorgou, Sharon Jenkins, Mike Hubank, Lorenzo Monserrat, William J McKenna, Vincent Plagnol, Perry M Elliott

Heart. 2015 Feb 15; 101(4): 294–301. Published online 2014 Oct 28. doi: 10.1136/heartjnl-2014-306387

PMCID:: PMC4345808

Abstract Article PDF–616K

Select item 429496813.

Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease

K. Nicole Weaver, Dehua Wang, James Cnota, Nicholas Gardner, Deborah Stabley, Katia Sol-Church, Karen W. Gripp, David P. Witte, Kevin E. Bove, Robert J. Hopkin

Pediatr Dev Pathol. Author manuscript; available in PMC 2015 Jan 15.

Published in final edited form as: Pediatr Dev Pathol. 2014 Nov-Dec; 17(6): 421–430. Published online 2014 Aug 18. doi: 10.2350/14-05-1488-OA.1

PMCID:: PMC4294968

Abstract Article PDF–6.2M

Select item 425997614.

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach, Metodi D. Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W. Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A. Mayr, Sarah F. Pearce, Christopher A. Powell, Ann Saada, Akira Ohtake, Federica Invernizzi, Eleonora Lamantea, Ewen W. Sommerville, Angela Pyle, Patrick F. Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, Bénédict Mousson de Camaret, Dominique Chretien, Arnold Munnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M. Strom, Thomas Meitinger, Enrico S. Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B. Haack, Michal Minczuk, Holger Prokisch

Am J Hum Genet. 2014 Dec 4; 95(6): 708–720. doi: 10.1016/j.ajhg.2014.10.017

PMCID:: PMC4259976

Abstract Article PDF–1.0M

Select item 420087415.

Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch

PA Brink, JC Moolman-Smook, VA Corfield

Cardiovasc J Afr. 2009 Feb; 20(1): 57–63.

PMCID:: PMC4200874

Abstract Article PDF–1.4M

Select item 416714716.

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Alireza Haghighi, Tobias B Haack, Mehnaz Atiq, Hassan Mottaghi, Hamidreza Haghighi-Kakhki, Rani A Bashir, Uwe Ahting, René G Feichtinger, Johannes A Mayr, Agnès Rötig, Anne-Sophie Lebre, Thomas Klopstock, Andrea Dworschak, Nathan Pulido, Mahmood A Saeed, Nasrollah Saleh-Gohari, Eliska Holzerova, Patrick F Chinnery, Robert W Taylor, Holger Prokisch

Orphanet J Rare Dis. 2014; 9: 119. Published online 2014 Aug 20. doi: 10.1186/s13023-014-0119-3

PMCID:: PMC4167147

Abstract Article PDF–2.2M

Select item 416426717.

Transmission of the Rare HRAS Mutation (c. 173C > T; p.T58I) Further Illustrates Its Attenuated Phenotype

Karen W. Gripp, Elizabeth Hopkins, Alvaro Serrano, Norma J. Leonard, Deborah L. Stabley, Katia Sol-Church

Am J Med Genet A. Author manuscript; available in PMC 2014 Sep 15.

Published in final edited form as: Am J Med Genet A. 2012 May; 0(5): 1095–1101. Published online 2012 Apr 9. doi: 10.1002/ajmg.a.35294

PMCID:: PMC4164267

Abstract Article PDF–540K

Select item 400759818.

Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)

Wei Qiu, Xiaonan Wang, Vladimir Romanov, Ashley Hutchinson, Andrés Lin, Maxim Ruzanov, Kevin P Battaile, Emil F Pai, Benjamin G Neel, Nickolay Y Chirgadze

BMC Struct Biol. 2014; 14: 10. Published online 2014 Mar 14. doi: 10.1186/1472-6807-14-10

PMCID:: PMC4007598

Abstract Article PDF–1.8M

Select item 572184219.

Low Prevalence of Inappropriate Shocks in Patients With Inherited Arrhythmia Syndromes With the Subcutaneous Implantable Defibrillator Single Center Experience and Long‐Term Follow‐Up

Boris Rudic, Erol Tülümen, Veronika Berlin, Susanne Röger, Ksenija Stach, Volker Liebe, Ibrahim El‐Battrawy, Christina Dösch, Theano Papavassiliu, Ibrahim Akin, Martin Borggrefe, Jürgen Kuschyk

J Am Heart Assoc. 2017 Oct; 6(10): e006265. Published online 2017 Oct 17. doi: 10.1161/JAHA.117.006265

PMCID:: PMC5721842

Abstract Article PDF–928K

Select item 575182520.

Cardiac manifestations of PRKAG2 mutation

Pooya Banankhah, Gregory A. Fishbein, Anthony Dota, Reza Ardehali

BMC Med Genet. 2018; 19: 1. Published online 2018 Jan 3. doi: 10.1186/s12881-017-0512-6

PMCID:: PMC5751825

Abstract Article PDF–809K

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