Malgorzata M. Nowaczyk
Hamilton, ON, Canada
Last Updated: 09/26/2026
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Found 33 publications
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 17, 2025
Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.
Journal: American journal of medical genetics. Part A
Published: July 09, 2025
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: April 23, 2024
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Journal: American journal of human genetics
Published: January 20, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Journal: American journal of human genetics
Published: January 08, 2021
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.
Journal: Genes
Published: November 03, 2020
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
Journal: Human genetics
Published: July 25, 2020
Human-important outcomes and evidence-based medicine during the coronavirus disease 2019 pandemic.
Journal: Polish archives of internal medicine
Published: July 16, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Journal: American journal of medical genetics. Part A
Published: May 01, 2020
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Journal: Human mutation
Published: May 31, 2019
Last Updated: 09/26/2026