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Page 1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade D… See abstract for full author list ➔ Hamdan FF, et al. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: corsten janssen n. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M. Granadillo JL, et al. Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30157302
Clinical and molecular effects of CHD7 in the heart.
Corsten-Janssen N, Scambler PJ. Corsten-Janssen N, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):487-495. doi: 10.1002/ajmg.c.31590. Epub 2017 Oct 31. Am J Med Genet C Semin Med Genet. 2017. PMID: 29088513 Review.
The cardiac phenotype in patients with a CHD7 mutation.
Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L. Corsten-Janssen N, et al. Circ Cardiovasc Genet. 2013 Jun;6(3):248-54. doi: 10.1161/CIRCGENETICS.113.000054. Circ Cardiovasc Genet. 2013. PMID: 23677905
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C, Neveling K, Zafeiropopoulou D, Gilissen C, Pfundt R, Rinne T, de Leeuw N, Faas B, Gardeitchik T, Sallevelt SCEH, Paulussen A, Stevens SJC, Sikkel E, Elting MW, van Maarle MC, Diderich KEM, Corsten-Janssen N, Lichtenbelt KD, Lachmeijer G, Vissers LELM, Yntema HG, Nelen M, Feenstra I, van Zelst-Stams WAG. Deden C, et al. Among authors: corsten janssen n. Prenat Diagn. 2020 Jul;40(8):972-983. doi: 10.1002/pd.5717. Epub 2020 May 5. Prenat Diagn. 2020. PMID: 32333414 Free PMC article.
20 results