Ruben Attali

Early Detection and Staging of Colorectal Cancer Using a Panel of Micro RNAs

A. Stojadinovic, A. Nissan, A. Gure, 2018 .

Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice

D. Cheillan, M. Vanier, I. Maire, 2008, PloS one.

Spinal muscular atrophy.

J. Melki, Jeremie Vitte, Ruben Attali, 2009, Advances in experimental medicine and biology.

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

F. Muntoni, R. Gambari, A. Finotti, 2015, Human molecular genetics.

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.

J. Melki, Ariel Israel, Y. Nevo, 2009, Human molecular genetics.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.

J. Rosenfeld, S. Lalani, T. Schedl, 2022, Molecular genetics and metabolism.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

Lisa T. Emrick, J. Rosenfeld, S. Lalani, 2022, bioRxiv.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

F. Del Bene, T. Haaf, R. Maroofian, 2021, American journal of human genetics.

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Y. Nevo, T. Dor, S. Treves, 2013, PloS one.

Evaluation of an Automated Genome Interpretation Model for Rare Disease Routinely Used in a Clinical Genetic Lab.

F. Xia, C. Eng, Ido Machol, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.