Rima Slim

Publications

• Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles
  American Journal of Human Genetics. 11, 2018  |   Pubmed ID: 30388401
• A Bioinformatics Transcriptome Meta-analysis Highlights the Importance of Trophoblast Differentiation in the Pathology of Hydatidiform Moles
  Placenta. 05, 2018  |   Pubmed ID: 29908639
• Biallelic PADI6 Variants Linking Infertility, Miscarriages, and Hydatidiform Moles
  European Journal of Human Genetics : EJHG. 07, 2018  |   Pubmed ID: 29693651
• 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. 07, 2018  |   Pubmed ID: 29463882
• 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. Nov, 2017  |   Pubmed ID: 28899975
• Recurrent Triploid Digynic Conceptions and Mature Ovarian Teratomas: Are They Different Manifestations of the Same Genetic Defect?
  Genes, Chromosomes & Cancer. 12, 2017  |   Pubmed ID: 28730668
• Pathogenic Variant in (19q13.42) Associated with Recurrent Gestational Trophoblastic Disease: Data from Early Embryo Development Observed During Fertilization
  Clinical and Experimental Reproductive Medicine. Mar, 2017  |   Pubmed ID: 28428943
• Two Novel Mutations in the KHDC3L Gene in Asian Patients with Recurrent Hydatidiform Mole
  Human Genome Variation. 2016  |   Pubmed ID: 27621838
• Circulating Tumor DNA: A Potential Novel Diagnostic Approach in Gestational Trophoblastic Neoplasia
  EBioMedicine. Feb, 2016  |   Pubmed ID: 26981562
• The Genomic Architecture of NLRP7 is Alu Rich and Predisposes to Disease-associated Large Deletions
  European Journal of Human Genetics : EJHG. 10, 2016  |   Pubmed ID: 26956250
• Live Births in Women with Recurrent Hydatidiform Mole and Two NLRP7 Mutations
  Reproductive Biomedicine Online. Jul, 2015  |   Pubmed ID: 25982095
• NLRP7 and KHDC3L, the Two Maternal-effect Proteins Responsible for Recurrent Hydatidiform Moles, Co-localize to the Oocyte Cytoskeleton
  Human Reproduction (Oxford, England). Jan, 2015  |   Pubmed ID: 25358348
• Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing
  PloS One. 2014  |   Pubmed ID: 25211151
• Comprehensive Genotype-phenotype Correlations Between NLRP7 Mutations and the Balance Between Embryonic Tissue Differentiation and Trophoblastic Proliferation
  Journal of Medical Genetics. Sep, 2014  |   Pubmed ID: 25097207
• NLRP7 Inter-domain Interactions: the NACHT-associated Domain is the Physical Mediator for Oligomeric Assembly
  Molecular Human Reproduction. Oct, 2014  |   Pubmed ID: 25082979
• Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling
  Current Obstetrics and Gynecology Reports. 2014  |   Pubmed ID: 24533231
• NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges
  Frontiers in Immunology. 2013  |   Pubmed ID: 23970884
• Report of Four New Patients with Protein-truncating Mutations in C6orf221/KHDC3L and Colocalization with NLRP7
  European Journal of Human Genetics : EJHG. Dec, 2012  |   Pubmed ID: 23232697
• 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. Sep, 2012  |   Pubmed ID: 22938382
• NLRP7 and the Genetics of Post-molar Choriocarcinomas in Senegal
  Molecular Human Reproduction. Jan, 2012  |   Pubmed ID: 21948117
• 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. Dec, 2011  |   Pubmed ID: 22025618
• A Novel 5-bp Deletion in Clarin 1 in a Family with Usher Syndrome
  Ophthalmic Genetics. Nov, 2011  |   Pubmed ID: 21675857
• Recurrent Triploid and Dispermic Conceptions in Patients with NLRP7 Mutations
  Placenta. May, 2011  |   Pubmed ID: 21421271
• A Novel Approach Identifies New Differentially Methylated Regions (DMRs) Associated with Imprinted Genes
  Genome Research. Mar, 2011  |   Pubmed ID: 21324877
• A Strong Founder Effect for Two NLRP7 Mutations in the Indian Population: an Intriguing Observation
  Clinical Genetics. Sep, 2009  |   Pubmed ID: 19650864
• A Novel VPS13B Mutation in Two Brothers with Cohen Syndrome, Cutis Verticis Gyrata and Sensorineural Deafness
  European Journal of Human Genetics : EJHG. Aug, 2009  |   Pubmed ID: 19190672
• NLRP7 Mutations in Women with Diploid Androgenetic and Triploid Moles: a Proposed Mechanism for Mole Formation
  Human Molecular Genetics. Mar, 2009  |   Pubmed ID: 19066229
• Women Heterozygous for NALP7/NLRP7 Mutations Are at Risk for Reproductive Wastage: Report of Two Novel Mutations
  Human Mutation. Jul, 2007  |   Pubmed ID: 17579354
• The Genetics of Hydatidiform Moles: New Lights on an Ancient Disease
  Clinical Genetics. Jan, 2007  |   Pubmed ID: 17204043
• Familial Molar Tissues Due to Mutations in the Inflammatory Gene, NALP7, Have Normal Postzygotic DNA Methylation
  Human Genetics. Oct, 2006  |   Pubmed ID: 16874523
• Mutations in NALP7 Cause Recurrent Hydatidiform Moles and Reproductive Wastage in Humans
  Nature Genetics. Mar, 2006  |   Pubmed ID: 16462743
• Evidence of a Genetic Heterogeneity of Familial Hydatidiform Moles
  Placenta. Jan, 2005  |   Pubmed ID: 15664405