Genetic Variants Regulating Immune Cell Levels in Health and Disease

Valeria Orrù, Maristella Steri, Gabriella Sole, +49

Cell

ImmunogeneticsGenetic VariantsAllelic VariantAutoimmune DiseaseImmune Cell Development +9

Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

Paolo Francalacci, Laura Morelli, Andrea Angius, +36

Science

Comparative GenomicsGeneticsGenomicsMsy Phylogenetic TreeY Chromosome +17

Buried in the Middle but Guilty: Intronic Mutations in the <i>TCIRG1</i> Gene Cause Human Autosomal Recessive Osteopetrosis

Eleonora Palagano, Harry C. Blair, Alessandra Pangrazio, +18

Journal of Bone and Mineral Research

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, Insa Buers, +22

The American Journal of Human Genetics

Bi-allelic MutationsEarly-onset Retinitis PigmentosaAllelic VariantGenetic DisorderGenetics +5

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Alessandra Pangrazio, Alessandro Puddu, Manuela Oppo, +11

Bone

Mendelian DisorderRecessive OsteopetrosisIntermediate OsteopetrosisGenetic DisorderExome Sequencing +11

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi‐Ruscone, +15

Journal of Human Genetics

BiologyGenetic DisorderGeneticsAudiologyMolecular Genetics +9

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1

Eleonora Palagano, Giulia Zuccarini, Paolo Prontera, +12

Bone

Genetic DisorderGeneticsPathologyMolecular MedicineNeuropathology +2

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita Maria Alves, Paolo Uva, Marielza Veiga, +14

BMC Medical Genetics

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of <i>CREBBP</i>

Andrea Angius, Paolo Uva, Manuela Oppo, +12

American Journal of Medical Genetics Part A

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

Eleonora Palagano, S. P. Lucia, Ciro Menale, +7

Journal of Bone and Mineral Research