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

Text availability

Article attribute

Article type

Publication date

Search Results

37 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: moghadasi s. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: moghadasi s. Genet Med. 2019 May;21(5):1074-1082. doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287924 Free article.
Correction: Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: moghadasi s. Genet Med. 2019 Sep;21(9):2159-2164. doi: 10.1038/s41436-018-0363-3. Genet Med. 2019. PMID: 30464259 Free article.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Moghadasi S, Meeks HD, Vreeswijk MP, Janssen LA, Borg Å, Ehrencrona H, Paulsson-Karlsson Y, Wappenschmidt B, Engel C, Gehrig A, Arnold N, Hansen TVO, Thomassen M, Jensen UB, Kruse TA, Ejlertsen B, Gerdes AM, Pedersen IS, Caputo SM, Couch F, Hallberg EJ, van den Ouweland AM, Collée MJ, Teugels E, Adank MA, van der Luijt RB, Mensenkamp AR, Oosterwijk JC, Blok MJ, Janin N, Claes KB, Tucker K, Viassolo V, Toland AE, Eccles DE, Devilee P, Van Asperen CJ, Spurdle AB, Goldgar DE, García EG. Moghadasi S, et al. J Med Genet. 2018 Jan;55(1):15-20. doi: 10.1136/jmedgenet-2017-104560. Epub 2017 May 10. J Med Genet. 2018. PMID: 28490613
Neurofibromas in LZTR1 schwannomatosis.
Groen JL, Moghadasi S, Spruijt L, Korpershoek E, van Ierland Y, van Wezel JT, van Duinen S, Malessy MJA, Lesnik Oberstein SAJ. Groen JL, et al. Among authors: moghadasi s. Clin Genet. 2022 May;101(5-6):571-572. doi: 10.1111/cge.14121. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35178712 No abstract available.
Performance of BRCA1/2 mutation prediction models in male breast cancer patients.
Moghadasi S, Grundeken V, Janssen LAM, Dijkstra NH, Rodríguez-Girondo M, van Zelst-Stams WAG, Oosterwijk JC, Ausems MGEM, Oldenburg RA, Adank MA, Blom EW, Ruijs MWG, van Os TAM, van Deurzen CHM, Martens JWM, Schroder CP, Wijnen JT, Vreeswijk MPG, van Asperen CJ. Moghadasi S, et al. Clin Genet. 2018 Jan;93(1):52-59. doi: 10.1111/cge.13065. Epub 2017 Sep 25. Clin Genet. 2018. PMID: 28589637
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.
Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA; Dutch-Belgian VUS workgroup; Vreeswijk MPG, Jonkers J. Bouwman P, et al. Among authors: moghadasi s. Clin Cancer Res. 2020 Sep 1;26(17):4559-4568. doi: 10.1158/1078-0432.CCR-20-0255. Epub 2020 Jun 16. Clin Cancer Res. 2020. PMID: 32546644
Case series, chemotherapy-induced cardiomyopathy: mind the family history!
Moghadasi S, Fijn R, Beeres SLMA, Bikker H, Jongbloed JDH, Josephus Jitta D, Kroep JR, Lekanne Deprez RH, Vos YJ, de Vreede MJM, Antoni ML, Barge-Schaapveld DQCM. Moghadasi S, et al. Eur Heart J Case Rep. 2021 Sep 15;5(10):ytab333. doi: 10.1093/ehjcr/ytab333. eCollection 2021 Oct. Eur Heart J Case Rep. 2021. PMID: 34703979 Free PMC article.
37 results