Lucilla Pizzo

发表

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models

S. Girirajan, L. A. Lowery, D. Rincon-Limas, 2020, PLoS genetics.

NCBP2-mediated apoptosis contributes to developmental defects of the schizophrenia-associated 3q29 deletion

S. Girirajan, L. A. Lowery, D. Rincon-Limas, 2019 .

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and X. laevis models

S. Girirajan, L. A. Lowery, D. Rincon-Limas, 2019, bioRxiv.

Pervasive epistasis in cell proliferation pathways modulates neurodevelopmental defects of autism-associated 16p11.2 deletion

S. Girirajan, J. Badano, Qingyu Wang, 2017, bioRxiv.

Quantitative assessment of eye phenotypes for functional genetic studies using Drosophila melanogaster

G. Mardon, L. Partridge, S. Girirajan, 2016, bioRxiv.

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster

G. Mardon, L. Partridge, S. Girirajan, 2016, G3: Genes, Genomes, Genetics.

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

H. Stefánsson, D. Rujescu, A. Ingason, 2016, PLoS genetics.

Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

S. Girirajan, L. A. Lowery, Arjun Krishnan, 2020, bioRxiv.

Clinical utility gene card for: 16p12.2 microdeletion

S. Girirajan, J. Andrieux, D. Amor, 2016, European Journal of Human Genetics.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development

S. Girirajan, Z. Lai, Matthew Jensen, 2019, bioRxiv.

Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

S. Girirajan, Arjun Krishnan, Matthew Jensen, 2021, Genome Medicine.

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster

S. Girirajan, J. Badano, Qingyu Wang, 2018, Nature Communications.

Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effect.

Andrés Iriarte, Fernando Alvarez-Valin, Lucilla Pizzo, 2015, Mutation research.

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster

S. Girirajan, J. Badano, Qingyu Wang, 2018, Nature Communications.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

16p12.2 Recurrent Deletion

J. Rosenfeld, S. Girirajan, J. Moeschler, 1993 .

An image analysis method to quantify CFTR subcellular localization.

M. Fariello, Lucilla Pizzo, Paola Lepanto, 2014, Molecular and cellular probes.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Clinical utility gene card for: 16p12.2 microdeletion

S. Girirajan, J. Andrieux, D. Amor, 2017, European Journal of Human Genetics.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

M. Fichera, S. Girirajan, C. Bénéteau, 2023, American journal of human genetics.

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster

G. Mardon, L. Partridge, S. Girirajan, 2016, G3: Genes, Genomes, Genetics.