Ramesh Reddy

Associations with Single Rare Heterozygous NLRP7 Variants for Chinese Patients with Sporadic Gestational Trophoblastic Diseases

Wei Zhou, R. Slim, Y. Ding, 2020 .

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

U. Surti, M. Seoud, R. Slim, 2014, Journal of Medical Genetics.

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

O. Abdul-Rahman, I. Touitou, R. Slim, 2012, European Journal of Human Genetics.

A challenging case of primary amenorrhoea

V. Sarathi, C. Shivaprasad, Sridevi Atluri, 2018, BMJ Case Reports.

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.

J. Majewski, T. Sahoo, R. Slim, 2018, American journal of human genetics.

Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

A. Mansour, A. Mégarbané, J. Majewski, 2014, PloS one.

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

I. Touitou, R. Slim, H. Dreyfus, 2016, European Journal of Human Genetics.

Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles.

V. Jobanputra, R. Slim, S. Mount, 2013, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

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

I. Touitou, R. Slim, H. Dreyfus, 2016, European Journal of Human Genetics.

Presentation of solitary caecal diverticulitum imitating acute appendicitis

I. Maitra, P. Turner, Ramesh Reddy, 2013, BMJ Case Reports.

An idiopathic epilepsy syndrome linked to 3q13.3‐q21 and missense mutations in the extracellular calcium sensing receptor gene

P. Satishchandra, R. Ratnapriya, A. Anand, 2008, Annals of neurology.

A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3

R. Ratnapriya, P. Satishchandra, A. Anand, 2009, Human Genetics.