Rima Slim

Department of Experimental Medicine, McGill University

Research Area

Genetics

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 3	2019

Other Publications

Article	Year
Evidence of a genetic heterogeneity of familial hydatidiform moles. Placenta\| PubMed ID: 15664405	2005
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nature genetics\| PubMed ID: 16462743	2006
Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. Human genetics\| PubMed ID: 16874523	2006
The genetics of hydatidiform moles: new lights on an ancient disease. Clinical genetics\| PubMed ID: 17204043	2007
Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations. Human mutation\| PubMed ID: 17579354	2007
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. Human molecular genetics\| PubMed ID: 19066229	2009
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. European journal of human genetics : EJHG\| PubMed ID: 19190672	2009
A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation. Clinical genetics\| PubMed ID: 19650864	2009
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome research\| PubMed ID: 21324877	2011
Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations. Placenta\| PubMed ID: 21421271	2011
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome. Ophthalmic genetics\| PubMed ID: 21675857	2011
NLRP7 and the genetics of post-molar choriocarcinomas in Senegal. Molecular human reproduction\| PubMed ID: 21948117	2012
NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center. The Journal of biological chemistry\| PubMed ID: 22025618	2011
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet journal of rare diseases\| PubMed ID: 22938382	2012
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. European journal of human genetics : EJHG\| PubMed ID: 23232697	2012
NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges. Frontiers in immunology\| PubMed ID: 23970884	2013
Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling. Current obstetrics and gynecology reports\| PubMed ID: 24533231	2014
NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly. Molecular human reproduction\| PubMed ID: 25082979	2014
Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. Journal of medical genetics\| PubMed ID: 25097207	2014
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. PloS one\| PubMed ID: 25211151	2014
NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton. Human reproduction (Oxford, England)\| PubMed ID: 25358348	2015
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations. Reproductive biomedicine online\| PubMed ID: 25982095	2015
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions. European journal of human genetics : EJHG\| PubMed ID: 26956250	2016
Circulating Tumor DNA: A Potential Novel Diagnostic Approach in Gestational Trophoblastic Neoplasia. EBioMedicine\| PubMed ID: 26981562	2016
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole. Human genome variation\| PubMed ID: 27621838	2016
Pathogenic variant in (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during fertilization. Clinical and experimental reproductive medicine\| PubMed ID: 28428943	2017
Recurrent triploid digynic conceptions and mature ovarian teratomas: Are they different manifestations of the same genetic defect? Genes, chromosomes & cancer\| PubMed ID: 28730668	2017
Antagonism of EG-VEGF Receptors as Targeted Therapy for Choriocarcinoma Progression and . Clinical cancer research : an official journal of the American Association for Cancer Research\| PubMed ID: 28899975	2017
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc\| PubMed ID: 29463882	2018
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles. European journal of human genetics : EJHG\| PubMed ID: 29693651	2018
A bioinformatics transcriptome meta-analysis highlights the importance of trophoblast differentiation in the pathology of hydatidiform moles. Placenta\| PubMed ID: 29908639	2018
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. American journal of human genetics\| PubMed ID: 30388401	2018