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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1996 1
1999 1
2001 2
2002 4
2003 2
2004 5
2005 1
2006 1
2008 1
2009 1
2010 6
2011 3
2012 2
2013 1
2014 2
2015 7
2016 5
2017 11
2018 11
2019 29
2020 12
2021 32
2022 16
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144 results
Results by year
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Page 1
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz I, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel R, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Ann Rheum Dis. 2022 Jul 22:annrheumdis-2022-222629. doi: 10.1136/annrheumdis-2022-222629. Online ahead of print. Ann Rheum Dis. 2022. PMID: 35868845
Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy.
De Jong HN, Dewey FE, Cordero P, Victorio RA, Kirillova A, Huang Y, Madhvani R, Seo K, Werdich AA, Lan F, Orcholski M, Robert Liu W, Erbilgin A, Wheeler MT, Chen R, Pan S, Kim YM, Bommakanti K, Marcou CA, Martijn Bos J, Haddad F, Ackerman M, Vasan RS, MacRae C, Wu JC, de Jesus Perez V, Snyder M, Parikh VN, Ashley EA. De Jong HN, et al. Among authors: wheeler mt. Circ Genom Precis Med. 2022 Jun 7:101161CIRCGEN121003563. doi: 10.1161/CIRCGEN.121.003563. Online ahead of print. Circ Genom Precis Med. 2022. PMID: 35671065
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.
Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K. Groh WJ, et al. Among authors: wheeler mt. Heart Rhythm. 2022 Apr 29:S1547-5271(22)01946-4. doi: 10.1016/j.hrthm.2022.04.022. Online ahead of print. Heart Rhythm. 2022. PMID: 35500790
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014
Validating an Idiopathic Dilated Cardiomyopathy Diagnosis Using Cardiovascular Magnetic Resonance: The Dilated Cardiomyopathy Precision Medicine Study.
Haas GJ, Zareba KM, Ni H, Bello-Pardo E, Huggins GS, Hershberger RE; Study Principal Investigator (PI) and Co-Investigators: The Ohio State University. Haas GJ, et al. Circ Heart Fail. 2022 May;15(5):e008877. doi: 10.1161/CIRCHEARTFAILURE.121.008877. Epub 2022 Mar 4. Circ Heart Fail. 2022. PMID: 35240856 Clinical Trial.
The response to cardiac resynchronization therapy in LMNA cardiomyopathy.
Sidhu K, Castrini AI, Parikh V, Reza N, Owens A, Tremblay-Gravel M, Wheeler MT, Mestroni L, Taylor M, Graw S, Gigli M, Merlo M, Paldino A, Sinagra G, Judge DP, Ramos H, Mesubi O, Brown E, Turnbull S, Kumar S, Roy D, Tedrow UB, Ngo L, Haugaa K, Lakdawala NK. Sidhu K, et al. Among authors: wheeler mt. Eur J Heart Fail. 2022 Apr;24(4):685-693. doi: 10.1002/ejhf.2463. Epub 2022 Mar 14. Eur J Heart Fail. 2022. PMID: 35229420
Toward transcriptomics as a primary tool for rare disease investigation.
Montgomery SB, Bernstein JA, Wheeler MT. Montgomery SB, et al. Among authors: wheeler mt. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006198. doi: 10.1101/mcs.a006198. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35217565 Free PMC article.
144 results