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

Year Number of Results
1955 1
1967 1
1969 1
1970 2
1973 1
1974 2
1977 2
1978 1
1979 3
1980 6
1981 3
1983 4
1984 5
1985 1
1987 2
1988 2
1989 3
1990 2
1991 4
1992 2
1993 11
1994 8
1995 8
1997 2
1998 5
1999 3
2000 5
2001 3
2002 8
2003 12
2004 7
2005 9
2006 7
2007 11
2008 7
2009 7
2010 12
2011 14
2012 19
2013 13
2014 16
2015 17
2016 17
2017 18
2018 27
2019 15
2020 16
2021 11
2022 22
2023 15
2024 15
2025 10
2026 3

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377 results

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Page 1
A clinical and genotype-phenotype analysis of MACF1 variants.
Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS. Dekker J, et al. Among authors: martin dm. Am J Hum Genet. 2025 Oct 2;112(10):2363-2380. doi: 10.1016/j.ajhg.2025.08.010. Epub 2025 Sep 8. Am J Hum Genet. 2025. PMID: 40925378 Free PMC article.
CHD7 Disorder.
van Ravenswaaij-Arts CM, Hefner M, Blake K, Martin DM. van Ravenswaaij-Arts CM, et al. Among authors: martin dm. 2006 Oct 2 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2006 Oct 2 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301296 Free Books & Documents. Review.
A novel cardiomyopathy phenotype linked to a CHD7 missense variant.
Park IY, Hsu CW, Bouazoune K, Espindola CE, Armond MHM, Coarfa C, Grimm SL, Martin JF, Martin DM, Walker CL. Park IY, et al. Among authors: martin dm. Sci Rep. 2025 Jun 3;15(1):19429. doi: 10.1038/s41598-025-00606-1. Sci Rep. 2025. PMID: 40461563 Free PMC article.
NOTCH1 S2513 is critical for the regulation of NICD levels impacting the segmentation clock in hiPSC-derived PSM cells and somitoids.
Meijer HA, Hetherington A, Johnson SJ, Gallagher RL, Hussein IN, Weng Y, Rae JM, Noordzij TEJC, Kalamara M, Macartney TJ, Davidson L, Martin DMA, Gierlinski M, Davies P, Sonnen KF, Murray PJ, Dale JK. Meijer HA, et al. Among authors: martin dma. Genes Dev. 2025 Sep 2;39(17-18):1025-1044. doi: 10.1101/gad.352909.125. Genes Dev. 2025. PMID: 40441890 Free PMC article.
377 results