Rima Slim

Evidence of a genetic heterogeneity of familial hydatidiform moles.

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.

The genetics of hydatidiform moles: new lights on an ancient disease.

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.

Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations.

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal.

NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center.

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.

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges.

Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling.

NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly.

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Circulating Tumor DNA: A Potential Novel Diagnostic Approach in Gestational Trophoblastic Neoplasia.

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.

Pathogenic variant in (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during fertilization.

Recurrent triploid digynic conceptions and mature ovarian teratomas: Are they different manifestations of the same genetic defect?

Antagonism of EG-VEGF Receptors as Targeted Therapy for Choriocarcinoma Progression and .

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.

A bioinformatics transcriptome meta-analysis highlights the importance of trophoblast differentiation in the pathology of hydatidiform moles.

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.