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

• Authors : Jensen, Matthew; Tyryshkina, Anastasia; Pizzo, Lucilla

• Source: Genome Medicine. October 18, 2021, Vol. 13 Issue 1

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

• Authors : Pizzo, Lucilla; Lasser, Micaela; Yusuff, Tanzeen

• Source: PLoS Genetics. April 5, 2021, Vol. 17 Issue 4, e1009112

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

• Authors : Yusuff, Tanzeen; Jensen, Matthew; Yennawar, Sneha

• Source: PLoS Genetics. June 24, 2020, Vol. 16 Issue 6, e1008792

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

• Authors : Singh, Mayanglambam Dhruba; Jensen, Matthew; Lasser, Micaela

• Source: PLoS Genetics. February 13, 2020, Vol. 16 Issue 2, e1008590

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

• Authors : Isles, Anthony R.; Ingason, Andrés; Lowther, Chelsea

• Source: PLoS Genetics. May 6, 2016, Vol. 12 Issue 5, e1005993

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NCBP2modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models.

• Authors : Singh, Mayanglambam Dhruba; Jensen, Matthew; Lasser, Micaela

Subjects: XENOPUS laevis; DROSOPHILA melanogaster; DELETION mutation

• Source: PLoS Genetics; 2/13/2020, Vol. 16 Issue 2, p1-43, 43p

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

• Authors : Iyer, Janani; Singh, Mayanglambam Dhruba; Jensen, Matthew

Subjects: DROSOPHILA melanogaster; CELL proliferation; DROSOPHILA

• Source: Nature Communications; 6/29/2018, Vol. 9 Issue 1, p1-19, 19p

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

• Authors : Smolen, Corrine (AUTHOR); Jensen, Matthew (AUTHOR); Dyer, Lisa (AUTHOR)

Subjects: ASSORTATIVE mating; DISEASE risk factors; HOMOZYGOSITYUNITED Kingdom

• Source: American Journal of Human Genetics. Dec2023, Vol. 110 Issue 12, p2015-2028. 14p.

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

• Authors : Pizzo, Lucilla; Iriarte, Andrés; Alvarez-Valin, Fernando

• Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis; May 2015, Vol. 775 Issue: 1 p19-25, 7p

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