Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, +177

Nature

Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2 +6

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, +24

American Journal of Medical Genetics Part A

iPS cells to model CDKL5-related disorders

Mariangela Amenduni, Roberta De Filippis, Aaron Cheung, +9

European Journal of Human Genetics

Signal TransductionAutoimmune DiseaseDisease MechanismAutoimmunityMedicine +3

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

Elena Cellini, Vittoria Disciglio, Francesca Novara, +6

American Journal of Medical Genetics Part A

White MatterPathologyNeurologyWhite Matter AbnormalitiesMedicine +2

A Low Glycemic Index Mediterranean Diet Combined with Aerobic Physical Activity Rearranges the Gut Microbiota Signature in NAFLD Patients

Francesco Maria Calabrese, Vittoria Disciglio, Isabella Franco, +12

Nutrients

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, +26

European Journal of Medical Genetics

Mendelian DisorderPsychiatryGenetic DisorderGeneticsPsychiatric Genetics +9

Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA

Gabriella Livide, Maria Carmela Epistolato, Mariangela Amenduni, +10

Pathology & Oncology Research

Tumor HeterogeneityGeneticsCancer GenomicsMedicineCell Biology +3

Investigation of modifier genes within copy number variations in Rett syndrome

Rosangela Artuso, Filomena Tiziana Papa, Elisa Grillo, +11

Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderRett SyndromeGenetics +10

A large de novo9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

Simona Frigerio, Vittoria Disciglio, Siranoush Manoukian, +10

BMC Medical Genetics

Targeting SMYD3 to Sensitize Homologous Recombination-Proficient Tumors to PARP-Mediated Synthetic Lethality

Paola Sanese, Candida Fasano, Giacomo Buscemi, +21

iScience