Grazia Maria Simonetta Mancini

15PUBLICATIONS
67CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Cellular nervous systemMedical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Photonics, optoelectronics and optical communications
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Publications (15)

|Jun 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Marissa J Maroni, Melissa Barton, Katherine Lynch

|Jul 26, 2024
Prenatal assessment of brain malformations on neuroimaging: an expert panel review.

Ivana Pogledic, Kshitij Mankad, Mariasavina Severino

|Jul 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

James Fasham, Antje K Huebner, Lutz Liebmann

|Feb 23, 2023
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

M Gafner, C Garel, Z Leibovitz

|Feb 02, 2023
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

Daphne J Smits, Rachel Schot, Nathalie Krusy

|Apr 08, 2022
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Stefanie Brock, Annie Laquerriere, Florent Marguet

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Frequent Collaborators

3 joint publications

Renske Oegema

2 joint publications

Ashish R Deshwar

2 joint publications

William B Dobyns

1 joint publications

M Gafner