Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2000 2
2001 1
2002 5
2003 4
2006 3
2007 2
2008 3
2009 2
2010 3
2011 6
2012 5
2013 8
2014 2
2015 4
2016 5
2017 5
2018 3
2019 11
2020 3
2021 7
2022 4
2023 4
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

87 results

Results by year

Filters applied: . Clear all
Page 1
Beckwith-Wiedemann syndrome.
Choufani S, Shuman C, Weksberg R. Choufani S, et al. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):343-54. doi: 10.1002/ajmg.c.30267. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803657 Review.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: choufani s. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Among authors: choufani s. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158
Basic concepts of epigenetics.
Inbar-Feigenberg M, Choufani S, Butcher DT, Roifman M, Weksberg R. Inbar-Feigenberg M, et al. Among authors: choufani s. Fertil Steril. 2013 Mar 1;99(3):607-15. doi: 10.1016/j.fertnstert.2013.01.117. Epub 2013 Jan 26. Fertil Steril. 2013. PMID: 23357459 Free article. Review.
Molecular findings in Beckwith-Wiedemann syndrome.
Choufani S, Shuman C, Weksberg R. Choufani S, et al. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):131-40. doi: 10.1002/ajmg.c.31363. Epub 2013 Apr 16. Am J Med Genet C Semin Med Genet. 2013. PMID: 23592339 Review.
Anatomy of DNA methylation signatures: Emerging insights and applications.
Chater-Diehl E, Goodman SJ, Cytrynbaum C, Turinsky AL, Choufani S, Weksberg R. Chater-Diehl E, et al. Among authors: choufani s. Am J Hum Genet. 2021 Aug 5;108(8):1359-1366. doi: 10.1016/j.ajhg.2021.06.015. Epub 2021 Jul 22. Am J Hum Genet. 2021. PMID: 34297908 Free PMC article. Review.
Reply to Brioude et al.
Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Brzezinski J, et al. Among authors: choufani s. Eur J Hum Genet. 2018 Apr;26(4):473-474. doi: 10.1038/s41431-017-0094-y. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449717 Free PMC article. No abstract available.
Don't brush off buccal data heterogeneity.
Turinsky AL, Butcher DT, Choufani S, Weksberg R, Brudno M. Turinsky AL, et al. Among authors: choufani s. Epigenetics. 2019 Feb;14(2):109-117. doi: 10.1080/15592294.2019.1581592. Epub 2019 Mar 1. Epigenetics. 2019. PMID: 30821575 Free PMC article.
87 results