Ingrid Scheffer

Has grant

University of Melbourne

Australia

Research Interests

Explore related searches

Professors in Australia Professors in Medical Science Medical Science professors in Australia

Contact this professor

Get a free first email built on one of their papers, ready for you to edit and send yourself.

Recent Grants

Grant: Close

PERSYST: Pathogenic Evaluation of Recalcitrant Variants by Systematic Transactivation

Open Date: 2022-02-01

Close Date: 2026-03-01

Grant: Open

"Integrative-omics" for precision medicine in the epilepsies

Open Date: 2022-01-01

Close Date: 2026-12-01

Grant: Close

Using Cerebrospinal Fluid Liquid Biopsy for Detection of Mosaic Brain Mutations

Open Date: 2022-01-01

Close Date: 2024-01-01

Grant: Close

Einstein Visiting Fellowship

Open Date: 2022-01-01

Close Date: 2025-01-01

Grant: Open

Translational Centre for Speech Disorders

Open Date: 2022-01-01

Close Date: 2027-01-01

Articles (30)

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Collaborators (26)

Sarah Weckhuysen

Associate Professor

University of Antwerp

BELGIUM

View details

Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

View details

Gianpiero Cavalleri

Professor of Human Genetics

IRELAND

View details

Sue Fletcher

Murdoch University

AUSTRALIA

View details

Rebekah V Harris

University of Melbourne

AUSTRALIA

View details

Yue Huang

Assistant Professor

Harvard Medical School

UNITED STATES

View details

Ryan Lister

University of Western Australia

AUSTRALIA

View details

Ngaire Keenan

University of Otago

NEW ZEALAND

View details

Ruth Ottman

Professor

Columbia University

UNITED STATES

View details

Caroline Cusick

Broad Institute

UNITED STATES

View details

Lynette Sadleir

University of Otago

NEW ZEALAND

View details

Michael Hildebrand

A/Professor

University of Melbourne

AUSTRALIA

View details

Himanshu Goel

University of Newcastle Australia

AUSTRALIA

View details

Toshimitsu Suzuki

Lecturer

Nagoya University

JAPAN

View details

Dierk Niessing

Professor & Head of Institute

Ulm University

GERMANY

View details

Murat Gunel

Sterling Professor and Chair, Dept. of Neurosurgery

Yale University

UNITED STATES

View details

Helen Cross

University College London

UNITED KINGDOM

View details

Christian Pflueger

University of Western Australia

AUSTRALIA

View details

H. Westley Phillips

Stanford University

UNITED STATES

View details

Kazuhiro Yamakawa

Professor

Nagoya University

JAPAN

View details

Samuel Berkovic

University of Melbourne

AUSTRALIA

View details

Piero Perucca

AUSTRALIA

View details

Hirsch Edouard

Professor

University of Strasbourg

FRANCE

View details

Angelo Labate

Full Professor of Neurology

University of Messina

ITALY

View details

Saul Mullen

University of Melbourne

AUSTRALIA

View details

Christopher Reid

University of Melbourne

AUSTRALIA

View details

ApplyKite TwinLearns as you apply

Make your next move.

Prepare your application

Review drafts before you send them.

Ingrid Scheffer

Research Interests

Explore related searches

Contact this professor

Recent Grants

Articles (30)

Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants

SUDEP risk is influenced by longevity genomics: a polygenic risk score study

Sleep‐related hypermotor epilepsy—No longer controversial

Exploring physiological beta-hydroxybutyrate level in children treated with the classical ketogenic diet for drug-resistant epilepsy

Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy

WWOX -Related Developmental and Epileptic Encephalopathy

Serial correlation between saliva and blood beta‐hydroxybutyrate levels in children commencing the ketogenic diet for epilepsy

Development and Adaptive Function in Individuals with SCN2A-Related Disorders

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder

Author Correction: Developmental and epileptic encephalopathies

Developmental and epileptic encephalopathies

Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias.

RNA variant assessment using transactivation and transdifferentiation.

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

SCN8A self‐limited infantile epilepsy: Does epilepsy resolve?

Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox–Gastaut syndrome in clinical practice

Endophenotyping social cognition in the broader autism phenotype

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Indications and prescribing patterns of antiseizure medications in children in New Zealand

Recognition and epileptology of protracted CLN3 disease

Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

Differential diagnosis of familial adult myoclonic epilepsy

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy.

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy

Collaborators (26)

Sarah Weckhuysen

Paul Kuentz

Gianpiero Cavalleri

Sue Fletcher

Rebekah V Harris

Yue Huang

Ryan Lister

Ngaire Keenan

Ruth Ottman

Caroline Cusick

Lynette Sadleir

Michael Hildebrand

Himanshu Goel

Toshimitsu Suzuki

Dierk Niessing

Murat Gunel

Helen Cross

Christian Pflueger

H. Westley Phillips

Kazuhiro Yamakawa

Samuel Berkovic

Piero Perucca

Hirsch Edouard

Angelo Labate

Saul Mullen

Christopher Reid

Make your next move.