M. Oppo

发表

Genetic Variants Regulating Immune Cell Levels in Health and Disease

Wieslawa I. Mentzen, Alan M. Kwong, G. Abecasis, 2013, Cell.

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

M. Ferrari, A. Angius, A. Villa, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

D. Nickerson, Joshua D. Smith, F. Cucca, 2015, Metabolism: clinical and experimental.

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

G. Zampino, A. Angius, L. Crisponi, 2016, American journal of human genetics.

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

F. Cucca, A. Angius, L. Crisponi, 2019, BMC Medical Genetics.

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

R. Borgatti, G. Merlo, S. Mantero, 2018, Bone.

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

A. Villa, P. Vezzoni, P. Uva, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

S. Tofanelli, B. Tarrier, P. Francalacci, 2013, Science.

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

F. Cucca, P. Gasparini, A. Magi, 2016, Journal of Human Genetics.

Genetic structure and population dynamics of the biting midges Culicoides obsoletus and Culicoides scoticus: implications for the transmission and maintenance of bluetongue

A. Marchi, E. Pili, M. Oppo, 2010, Medical and veterinary entomology.

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

Andrea Superti-Furga, Paolo Vezzoni, B. Gener, 2014, Bone.

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019, Clinical genetics.

Title : Exome sequencing in Crisponi / CISS-like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019 .

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

G. Zampino, A. Angius, L. Crisponi, 2018, American journal of human genetics.

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

R. Hennekam, F. Cucca, A. Angius, 2019, American journal of medical genetics. Part A.

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

F. Cucca, A. Angius, L. Crisponi, 2018, Clinical genetics.