Michael Stephen Hildebrand

26PUBLICATIONS
182CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesInfant and child healthMedical infection agents (incl. prions)Neurogenetics
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Publications (26)

|May 07, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Jan 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testing.

Halianna Van Niel, Mariana Lauretta, Emma Baker

|Nov 21, 2025
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Mark F Bennett, Mark A Corbett, Thessa Kroes

|Nov 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.

Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah

|Oct 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Maggie M K Wong, Rosalie A Kampen, Ruth O Braden

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Frequent Collaborators

14 joint publications

Ingrid Eileen Scheffer

10 joint publications

Melanie Bahlo

10 joint publications

Angela T Morgan

7 joint publications

Samuel Frank Berkovic