Author

Małgorzata J.M. Nowaczyk

McMaster UniversityORCID 0000-0003-2765-0102Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alessandra RenieriiD· 1 shared Alexandre ReymondiD· 1 shared Alina KurolapiD· 1 shared Amy Siemon· 1 shared Andrew Polyak· 1 shared Anke Van DijckiD· 1 shared Anne‐Laure Mosca‐BoidroniD· 1 shared Arjun KrishnaniD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenomics

Alessandra RenieriORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineScience AdvancesPeer-reviewedMay 12, 2021

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

30 citations

humanDrosophila

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GenomicsGenetics in MedicinePeer-reviewedSep 5, 2018

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

Lucilla Pizzo, Matthew Jensen, Andrew Polyak…·Santhosh Girirajan

The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.

193 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky