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139 results

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Page 1
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Among authors: dooijes d. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716 Free PMC article.
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E, Hoorntje ET, Te Rijdt WP, Bosman LP, Syrris P, Protonotarios A, Elliott PM, Tsatsopoulou A, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Wada Y, Horie M, Mogensen J, Christensen AH, Gerull B, Song L, Yao Y, Fan S, Saguner AM, Duru F, Koskenvuo JW, Cruz Marino T, Tichnell C, Judge DP, Dooijes D, Lekanne Deprez RH, Basso C, Pilichou K, Bauce B, Wilde AAM, Charron P, Fressart V, van der Heijden JF, van den Berg MP, Asselbergs FW, James CA, Jongbloed JDH, Harakalova M, van Tintelen JP. Nagyova E, et al. Among authors: dooijes d. J Cardiovasc Transl Res. 2023 Dec;16(6):1276-1286. doi: 10.1007/s12265-023-10403-8. Epub 2023 Jul 7. J Cardiovasc Transl Res. 2023. PMID: 37418234 Free PMC article.
Diagnostic value of late gadolinium enhancement at cardiovascular magnetic resonance to distinguish arrhythmogenic right ventricular cardiomyopathy from differentials.
Rekker LY, Muller SA, Gasperetti A, Bourfiss M, Oerlemans MIFJ, Cramer MJ, Zimmerman SL, Dooijes D, Schalkx H, van der Harst P, James CA, van Tintelen JP, Guglielmo M, Velthuis BK, Te Riele ASJM. Rekker LY, et al. Among authors: dooijes d. J Cardiovasc Magn Reson. 2024 Winter;26(2):101059. doi: 10.1016/j.jocmr.2024.101059. Epub 2024 Jul 8. J Cardiovasc Magn Reson. 2024. PMID: 38986843 Free PMC article.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: dooijes d. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
Niskanen JE, Ohlsson Å, Ljungvall I, Drögemüller M, Ernst RF, Dooijes D, van Deutekom HWM, van Tintelen JP, Snijders Blok CJB, van Vugt M, van Setten J, Asselbergs FW, Petrič AD, Salonen M, Hundi S, Hörtenhuber M; DoGA consortium; Kere J, Pyle WG, Donner J, Postma AV, Leeb T, Andersson G, Hytönen MK, Häggström J, Wiberg M, Friederich J, Eberhard J, Harakalova M, van Steenbeek FG, Wess G, Lohi H. Niskanen JE, et al. Among authors: dooijes d. Genome Med. 2023 Sep 18;15(1):73. doi: 10.1186/s13073-023-01221-3. Genome Med. 2023. PMID: 37723491 Free PMC article.
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis.
Tazelaar GHP, Hop PJ, Seelen M, van Vugt JJFA, van Rheenen W, Kool L, van Eijk KR, Gijzen M, Dooijes D, Moisse M, Calvo A, Moglia C, Brunetti M, Canosa A, Nordin A, Pardina JSM, Ravits J, Al-Chalabi A, Chio A, McLaughlin RL, Hardiman O, Van Damme P, de Carvalho M, Neuwirth C, Weber M, Andersen PM, van den Berg LH, Veldink JH, van Es MA. Tazelaar GHP, et al. Among authors: dooijes d. Neurobiol Aging. 2023 Feb;122:76-87. doi: 10.1016/j.neurobiolaging.2022.11.010. Epub 2022 Nov 17. Neurobiol Aging. 2023. PMID: 36521271 Free article.
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating MYBPC3 Founder Variant Carriers.
Hassanzada F, Jansen M, van Lint FHM, Bosman LP, Schmidt AF, Dooijes D, van de Sande D, Miah B, van der Crabben SN, Wilde AAM, Lekanne Deprez RH, de Boer RA, Christiaans I, Jongbloed JDH, Jorstad HT, Asselbergs FW, van Tintelen JP, Baas AF, Te Riele ASJM. Hassanzada F, et al. Among authors: dooijes d. Circ Genom Precis Med. 2024 Dec;17(6):e004561. doi: 10.1161/CIRCGEN.124.004561. Epub 2024 Dec 17. Circ Genom Precis Med. 2024. PMID: 39689185
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.
Eichstaedt CA, Maldonado-Velez G, Machado RD, Balachandar S, Coulet F, Day K, Dooijes D, Eyries M, Gräf S, Macaya D, Shaukat M, Southgate L, Tenorio-Castano J, Chung WK, Welch CL, Aldred MA. Eichstaedt CA, et al. Among authors: dooijes d. medRxiv [Preprint]. 2024 Nov 26:2024.11.24.24317862. doi: 10.1101/2024.11.24.24317862. medRxiv. 2024. PMID: 39649591 Free PMC article. Preprint.
Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Webster G, Jansen M, Remior P, Rasmussen TB, Sabater-Molina M, Barriales-Villa R, Girolami F, Cesar S, Fuentes-Cañamero ME, Alvarez García-Rovés R, Wahbi K, Limeres J, Kubanek M, Slieker MG, Sarquella-Brugada G, Abrams DJ, Dooijes D, Domínguez F, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. Among authors: dooijes d. J Am Heart Assoc. 2024 Nov 5;13(21):e036208. doi: 10.1161/JAHA.124.036208. Epub 2024 Nov 4. J Am Heart Assoc. 2024. PMID: 39494569 Free article.
139 results