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

Year Number of Results
1991 1
1996 1
2000 3
2002 5
2003 5
2004 1
2005 2
2006 1
2007 1
2008 3
2009 3
2010 7
2011 4
2012 7
2013 5
2014 2
2015 4
2016 2
2017 3
2018 3
2019 7
2020 4
2021 3
2022 6
2023 4
2024 1

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81 results

Results by year

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Page 1
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. van Woerden GM, et al. Among authors: wessels mw. Hum Mutat. 2022 Oct;43(10):1377-1395. doi: 10.1002/humu.24425. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35730652 Free PMC article.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei AD, Wakenight P, Zwingman TA, Bard AM, Sahai N, Willemsen MH, Schelhaas HJ, Stegmann APA, Verhoeven JS, de Man SA, Wessels MW, Kleefstra T, Shinde DN, Helbig KL, Basinger A, Wagner VF, Rodriguez-Buritica D, Bryant E, Millichap JJ, Millen KJ, Dobyns WB, Ramirez JM, Kalume FK. Wei AD, et al. Among authors: wessels mw. J Neurophysiol. 2022 Jul 1;128(1):40-61. doi: 10.1152/jn.00509.2021. Epub 2022 May 18. J Neurophysiol. 2022. PMID: 35583973 Free PMC article.
Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.
Schoonvelde SAC, Ruijmbeek CWB, Hirsch A, van Slegtenhorst MA, Wessels MW, von der Thüsen JH, Baas AF, Stroeks SLVM, Verdonschot JAJ, van der Zwaag PA, Verhagen JMA, Michels M. Schoonvelde SAC, et al. Among authors: wessels mw. Heart Rhythm. 2023 Nov;20(11):1512-1521. doi: 10.1016/j.hrthm.2023.08.003. Epub 2023 Aug 9. Heart Rhythm. 2023. PMID: 37562486
Variants in nuclear factor I genes influence growth and development.
Zenker M, Bunt J, Schanze I, Schanze D, Piper M, Priolo M, Gerkes EH, Gronostajski RM, Richards LJ, Vogt J, Wessels MW, Hennekam RC. Zenker M, et al. Among authors: wessels mw. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):611-626. doi: 10.1002/ajmg.c.31747. Epub 2019 Nov 15. Am J Med Genet C Semin Med Genet. 2019. PMID: 31730271 Review.
Kabuki syndrome: a review study of three hundred patients.
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Wessels MW, et al. Clin Dysmorphol. 2002 Apr;11(2):95-102. doi: 10.1097/00019605-200204000-00004. Clin Dysmorphol. 2002. PMID: 12002156 Review.
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA, Piers SRD, Wessels MW, Houweling AC, Bökenkamp R, Bootsma M, Bosman LP, Evertz R, Hellebrekers DMEI, Hoedemaekers YM, Knijnenburg J, Lekanne Deprez R, van Mil AM, Te Riele ASJM, van Slegtenhorst MA, Wilde AAM, Yap SC, Dooijes D, Koopmann TT, van Tintelen JP, Barge-Schaapveld DQCM; European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart. Bos TA, et al. Among authors: wessels mw. Neth Heart J. 2023 Aug;31(7-8):315-323. doi: 10.1007/s12471-023-01791-2. Epub 2023 Jul 28. Neth Heart J. 2023. PMID: 37505369 Free PMC article.
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.
Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Verhagen JMA, et al. Among authors: wessels mw. Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7. Int J Cardiol. 2018. PMID: 29452988 Free article. Review.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M, Drouot N, MacLennan SC, Wessels MW, Krygier M, Pavinato L, Telegrafi A, de Man SA, van Slegtenhorst M, Iacomino M, Madia F, Scudieri P, Uva P, Giacomini T, Nobile G, Mancardi MM, Balagura G, Galloni GB, Verrotti A, Umair M, Khan A, Liebelt J, Schmidts M, Langer T, Brusco A, Lipska-Ziętkiewicz BS, Saris JJ, Charlet-Berguerand N, Zara F, Striano P, Piton A. Scala M, et al. Among authors: wessels mw. Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8. Hum Mutat. 2022. PMID: 35607920 Free PMC article.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. Huang Y, et al. Among authors: wessels mw. Am J Hum Genet. 2022 Nov 3;109(11):2092. doi: 10.1016/j.ajhg.2022.10.001. Am J Hum Genet. 2022. PMID: 36332614 Free PMC article. No abstract available.
81 results