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Items: 1 to 20 of 48


Genome Sequencing in Hypertrophic Cardiomyopathy.

Ashley EA, Reuter CM, Wheeler MT.

J Am Coll Cardiol. 2018 Jul 24;72(4):430-433. doi: 10.1016/j.jacc.2018.05.029. No abstract available.


A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network.

Genet Med. 2018 Jun 15. doi: 10.1038/s41436-018-0044-2. [Epub ahead of print]


Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.


A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

Reuter CM, Brimble E, DeFilippo C, Dries AM; Undiagnosed Diseases Network, Enns GM, Ashley EA, Bernstein JA, Fisher PG, Wheeler MT.

J Pediatr. 2018 May;196:291-297.e2. doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11. No abstract available.


Incremental value of right heart metrics and exercise performance to well-validated risk scores in dilated cardiomyopathy.

Moneghetti KJ, Giraldeau G, Wheeler MT, Kobayashi Y, Vrtovec B, Boulate D, Kuznetsova T, Schnittger I, Wu JC, Myers J, Ashley E, Haddad F.

Eur Heart J Cardiovasc Imaging. 2018 Aug 1;19(8):916-925. doi: 10.1093/ehjci/jex187.


Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members, Goldstein DB, Shashi V.

Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14.


Value of Strain Imaging and Maximal Oxygen Consumption in Patients With Hypertrophic Cardiomyopathy.

Moneghetti KJ, Stolfo D, Christle JW, Kobayashi Y, Finocchiaro G, Sinagra G, Myers J, Ashley EA, Haddad F, Wheeler MT.

Am J Cardiol. 2017 Oct 1;120(7):1203-1208. doi: 10.1016/j.amjcard.2017.06.070. Epub 2017 Jul 17.


Contractile reserve and cardiopulmonary exercise parameters in patients with dilated cardiomyopathy, the two dimensions of exercise testing.

Moneghetti KJ, Kobayashi Y, Christle JW, Ariyama M, Vrtovec B, Kouznetsova T, Wilson A, Ashley E, Wheeler MT, Myers J, Haddad F.

Echocardiography. 2017 Aug;34(8):1179-1186. doi: 10.1111/echo.13623. Epub 2017 Jul 6.


Repeats and Survival in Myotonic Dystrophy Type 1.

Wheeler MT.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001783. doi: 10.1161/CIRCGENETICS.117.001783. No abstract available.


Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort.

Shcherbina A, Mattsson CM, Waggott D, Salisbury H, Christle JW, Hastie T, Wheeler MT, Ashley EA.

J Pers Med. 2017 May 24;7(2). pii: E3. doi: 10.3390/jpm7020003.


MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE; UDN, Perrimon N, Liu Z, Bellen HJ.

Am J Hum Genet. 2017 Jun 1;100(6):843-853. doi: 10.1016/j.ajhg.2017.04.010. Epub 2017 May 11.


A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.

Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH; Undiagnosed Diseases Network, Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V.

Orphanet J Rare Dis. 2017 Apr 17;12(1):71. doi: 10.1186/s13023-017-0623-3.


The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network, Wise AL.

Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.


Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Zastrow DB, Zornio PA, Dries A, Kohler J, Fernandez L, Waggott D, Walkiewicz M, Eng CM, Manning MA, Farrelly E; Undiagnosed Diseases Network, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT.

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001388. doi: 10.1101/mcs.a001388.


Exercise restrictions trigger psychological difficulty in active and athletic adults with hypertrophic cardiomyopathy.

Luiten RC, Ormond K, Post L, Asif IM, Wheeler MT, Caleshu C.

Open Heart. 2016 Oct 17;3(2):e000488. eCollection 2016.


Medical implications of technical accuracy in genome sequencing.

Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA.

Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0.


Sports genetics moving forward: lessons learned from medical research.

Mattsson CM, Wheeler MT, Waggott D, Caleshu C, Ashley EA.

Physiol Genomics. 2016 Mar;48(3):175-82. doi: 10.1152/physiolgenomics.00109.2015. Epub 2016 Jan 12. Review.


Systems Genomics Identifies a Key Role for Hypocretin/Orexin Receptor-2 in Human Heart Failure.

Perez MV, Pavlovic A, Shang C, Wheeler MT, Miller CL, Liu J, Dewey FE, Pan S, Thanaporn PK, Absher D, Brandimarto J, Salisbury H, Chan K, Mukherjee R, Konadhode RP, Myers RM, Sedehi D, Scammell TE, Quertermous T, Cappola T, Ashley EA.

J Am Coll Cardiol. 2015 Dec 8;66(22):2522-33. doi: 10.1016/j.jacc.2015.09.061.


Letter by Wheeler et al Regarding Article, "Recognition and Significance of Pathological T-Wave Inversions in Athletes".

Wheeler MT, Adelfattah R, Froelicher VF.

Circulation. 2015 Oct 6;132(14):e180. doi: 10.1161/CIRCULATIONAHA.115.016237. No abstract available.


Systematic Comparison of Digital Electrocardiograms From Healthy Athletes and Patients With Hypertrophic Cardiomyopathy.

Bent RE, Wheeler MT, Hadley D, Knowles JW, Pavlovic A, Finocchiaro G, Haddad F, Salisbury H, Race S, Shmargad Y, Matheson GO, Kumar N, Saini D, Froelicher V, Ashley E, Perez MV.

J Am Coll Cardiol. 2015 Jun 9;65(22):2462-3. doi: 10.1016/j.jacc.2015.03.559. No abstract available.

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