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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

52 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.
Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD. Rivera B, et al. Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23. Cancer Res. 2017. PMID: 28646019
De novo mutations in moderate or severe intellectual disability.
Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL. Hamdan FF, et al. PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25356899 Free PMC article.
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Srour M, et al. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17. Am J Hum Genet. 2015. PMID: 26477546 Free PMC article.
De novo variants in sporadic cases of childhood onset schizophrenia.
Ambalavanan A, Girard SL, Ahn K, Zhou S, Dionne-Laporte A, Spiegelman D, Bourassa CV, Gauthier J, Hamdan FF, Xiong L, Dion PA, Joober R, Rapoport J, Rouleau GA. Ambalavanan A, et al. Eur J Hum Genet. 2016 Jun;24(6):944-8. doi: 10.1038/ejhg.2015.218. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508570 Free PMC article.
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P. Monlong J, et al. PLoS Genet. 2018 Apr 12;14(4):e1007285. doi: 10.1371/journal.pgen.1007285. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29649218 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. 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.
52 results