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

Year Number of Results
1996 2
1997 2
1999 2
2000 5
2001 2
2003 1
2007 2
2009 2
2010 2
2011 7
2012 5
2013 4
2014 7
2015 5
2016 1
2017 8
2018 4
2019 2
2020 1
2021 3
2022 2
2024 0

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56 results

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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, An… See abstract for full author list ➔ Hamdan FF, et al. Among authors: kibar z. 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.
Genetic basis of neural tube defects.
Bassuk AG, Kibar Z. Bassuk AG, et al. Among authors: kibar z. Semin Pediatr Neurol. 2009 Sep;16(3):101-10. doi: 10.1016/j.spen.2009.06.001. Semin Pediatr Neurol. 2009. PMID: 19778707 Review.
Human neural tube defects: genetic causes and prevention.
De Marco P, Merello E, Cama A, Kibar Z, Capra V. De Marco P, et al. Among authors: kibar z. Biofactors. 2011 Jul-Aug;37(4):261-8. doi: 10.1002/biof.170. Epub 2011 Jun 14. Biofactors. 2011. PMID: 21674647 Review.
Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
Larrivée-Vanier S, Jean-Louis M, Magne F, Bui H, Rouleau GA, Spiegelman D, Samuels ME, Kibar Z, Van Vliet G, Deladoëy J. Larrivée-Vanier S, et al. Among authors: kibar z. Thyroid. 2022 May;32(5):486-495. doi: 10.1089/thy.2021.0597. Epub 2022 Apr 25. Thyroid. 2022. PMID: 35272499 Free PMC article.
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.
Capo-Chichi JM, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan FF, Michaud JL, Kibar Z, Mégarbané A. Capo-Chichi JM, et al. Among authors: kibar z. Eur J Med Genet. 2015 Dec;58(12):637-41. doi: 10.1016/j.ejmg.2015.11.005. Epub 2015 Nov 11. Eur J Med Genet. 2015. PMID: 26578240 Review.
A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.
Yu L, Lemay P, Ludlow A, Guyot MC, Jones M, Mohamed FF, Saroya GA, Panaretos C, Schneider E, Wang Y, Myers G, Khoriaty R, Li Q, Franceschi R, Engel JD, Kaartinen V, Rothstein TL, Justice MJ, Kibar Z, Singh SA. Yu L, et al. Among authors: kibar z. Blood Adv. 2021 Oct 26;5(20):4167-4178. doi: 10.1182/bloodadvances.2021004658. Blood Adv. 2021. PMID: 34464976 Free PMC article.
Whole exome sequencing identifies novel predisposing genes in neural tube defects.
Lemay P, De Marco P, Traverso M, Merello E, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, Audibert F, Michaud JL, Cama A, Rouleau GA, Kibar Z, Capra V. Lemay P, et al. Among authors: kibar z. Mol Genet Genomic Med. 2019 Jan;7(1):e00467. doi: 10.1002/mgg3.467. Epub 2018 Nov 10. Mol Genet Genomic Med. 2019. PMID: 30415495 Free PMC article.
56 results