Researcher Profile

Maria Iascone

Publications

243

Citations

Co-Authors

Active Years

Publications

Journal Article Genetics in Medicine Jul 01, 2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten · Sarah Bick · Sophia Adelson · Nils Gehlenborg +275 more

10.1016/j.gim.2025.101443 27 citations

Open Access Journal Article Genetics in Medicine Jan 01, 2023

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld · Jack Reilly · Marie-Claire Cornips · Michael A. Hadders +55 more

10.1016/j.gim.2022.09.006 35 citations

Open Access Journal Article Genome Medicine Apr 19, 2021

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine · Kendra Hoekzema · Jill Rosenfeld · Pengfei Liu +253 more

10.1186/s13073-021-00870-6 101 citations

Open Access Journal Article Genetics in Medicine Feb 01, 2021

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet · Kirsty McWalter · Katharina Mayerhanser · Grace M. Anbouba +57 more

10.1038/s41436-020-00993-y 13 citations

Open Access Journal Article Human Mutation Jun 25, 2018

Further delineation of Malan syndrome

Manuela Priolo · Denny Schanze · Katrin Tatton-Brown · Paul A. Mulder +50 more

10.1002/humu.23563 67 citations

Publication Timeline

2025

2023

2021

2018

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