Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants

Shlomit Gilad, Luciana Chessa, Rami Khosravi, +7

The American Journal of Human Genetics

Ataxia with oculomotor apraxia type 2

Chiara Criscuolo, Luchino Chessa, Silvia Di Giandomenico, +13

Neurology

The novel human gene aprataxin is directly involved in DNA single-strand-break repair

Pasquale Mosesso, Maria Piane, F. Palitti, +3

Cellular and Molecular Life Sciences

Genome InstabilityDna DamageDna Single-strand-break RepairNatural SciencesGenetics +7

Role of senataxin in DNA damage and telomeric stability

Andrea De Amicis, Maria Piane, Francesca Ferrari, +3

DNA repair

Genome InstabilityDna DamageMolecular BiologyCellular SenescenceToxicological Mechanism

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the <i>PCNT</i> gene

Maria Piane, Matteo Della Monica, Gianluca Piatelli, +4

American Journal of Medical Genetics Part A

Different Clinical and Immunological Presentation of Ataxia-Telangiectasia within the Same Family

Annarosa Soresina, Vassilios Lougaris, G Cattaneo, +4

Neuropediatrics

ImmunodeficienciesGeneticsImmunologyPathologyDisease Gene Identification +18

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

Speranza Rubattu, Cristina Bozzao, Ermelinda Pennacchini, +9

International Journal of Molecular Sciences

Heart FailureGenetic TestingGeneticsGenetic EpidemiologyPathology +23

Genetic Testing and Clinical Management Practices for Variants in Non-<i>BRCA1</i>/<i>2</i> Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Sarah M. Nielsen, Diana Eccles, Iris L. Romero, +61

JCO Precision Oncology

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing

Damiano Magrì, Vittoria Mastromarino, Giovanna Gallo, +16

Journal of Clinical Medicine

Founder Effects for <i>ATM</i> Gene Mutations in Italian Ataxia Telangiectasia Families

Luciana Chessa, Maria Piane, Monia Magliozzi, +5

Annals of Human Genetics

Recurrent MutationGeneticsHaplotype AnalysisHuman PolymorphismMolecular Biology +14