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Ingo Helbig

Children's Hospital of Philadelphia

United States

Research Interests

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Professors in United States

Articles (18)

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2026

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Collaborators (36)

Maud de Dieuleveult

INSERM

FRANCE

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Sara Sarasua

Associate Professor

Clemson University

UNITED STATES

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Christina Lam

Associate Professor

University of Washington

UNITED STATES

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Kamyar Keramatian

Assistant Professor

The University of British Columbia

CANADA

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Rebecca Ganetzky

Associate Professor

Children's Hospital of Philadelphia

UNITED STATES

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Caitlin Millett

Assistant Professor

Northwell Health

UNITED STATES

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Sarah Weckhuysen

Prof. at University of Antwerp

University of Antwerp

BELGIUM

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Sudha Kessler

Associate Professor

University of Pennsylvania

UNITED STATES

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Anna-Elina Lehesjoki

Professor

University of Helsinki

FINLAND

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Luigi Boccuto

UNITED STATES

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Gianpiero Cavalleri

Professor of Human Genetics

IRELAND

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Pablo Botas

Head of Product

GERMANY

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Caroline Cusick

Broad Institute

UNITED STATES

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Bobby Ng

Staff Scientist

Sanford Burnham Prebys Medical Discovery Institute

UNITED STATES

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Cynthia Smith

Research Scientist

Jackson Laboratory

UNITED STATES

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Dominik Seelow

Professor

Berlin Institute of Health at Charité - Universitätsmedizin Berlin

GERMANY

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Guiomar Perez de Nanclares

SPAIN

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Marek Turnovec

University Hospital in Motol

CZECH REPUBLIC

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Toshimitsu Suzuki

Lecturer

Nagoya University

JAPAN

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Yi Xing

Professor

University of Pennsylvania

UNITED STATES

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Lan Lin

Assistant Professor

UNITED STATES

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Ingrid Scheffer

University of Melbourne

AUSTRALIA

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Marni Falk

Assistant Professor

University of Pennsylvania

UNITED STATES

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Mark Fitzgerald

Associate Professor of Clinical Neurology

UNITED STATES

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Kazuhiro Yamakawa

Professor

Nagoya University

JAPAN

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Joris Vriens

PI/ professor

KU Leuven

BELGIUM

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Laura Pace

Clinical Assistant Professor

Stanford University

UNITED STATES

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Rachel Gore Moses

National Institute of Allergy and Infectious Diseases

UNITED STATES

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Eduard Bakštein

Czech Technical University in Prague, Faculty of Electrical Engineering

CZECH REPUBLIC

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nefize yalin

King’s College London

UNITED KINGDOM

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Andrew Edmondson

University of Pennsylvania

UNITED STATES

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Ethan Goldberg

Associate Professor

University of Pennsylvania Perelman School of Medicine

UNITED STATES

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Lucie Delemotte

KTH Royal Institute of Technology

SWEDEN

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Rebecca Strawbridge

Senior Lecturer in Affective Disorders

King’s College London

UNITED KINGDOM

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Stefano Gustincich

Principal Investigator - Tenured

Istituto Italiano di Tecnologia

ITALY

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Rossana Sanchez Russo

Associate Professor of Human Genetics

Emory University

UNITED STATES

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Ingo Helbig

Research Interests

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Articles (18)

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

The Human Phenotype Ontology in 2024

A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction

De novo variants in DENND5B cause a neurodevelopmental disorder

Molecular and cellular context influences SCN8A variant function

The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals

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

Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study.

Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disorders.

Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature

A single-cell transcriptome atlas of glial diversity in the human hippocampus across the postnatal lifespan (vol 29, pg 1594, 2022)

Delineating clinical and developmental outcomes in <italic>STXBP1</italic>-related disorders

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding

Loss of <i>Grin2a</i> causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

Loss of<italic> Grin2a</italic> Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons: A Possible Mechanism for Transient Seizure Burden in Patients with Null<italic> GRIN2A</italic> Variants

Molecular and Cellular Context Influences <italic>SCN8A</italic> Variant Function

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Collaborators (36)

Maud de Dieuleveult

Sara Sarasua

Christina Lam

Kamyar Keramatian

Rebecca Ganetzky

Caitlin Millett

Sarah Weckhuysen

Sudha Kessler

Anna-Elina Lehesjoki

Luigi Boccuto

Gianpiero Cavalleri

Pablo Botas

Caroline Cusick

Bobby Ng

Cynthia Smith

Dominik Seelow

Guiomar Perez de Nanclares

Marek Turnovec

Toshimitsu Suzuki

Yi Xing

Lan Lin

Ingrid Scheffer

Marni Falk

Mark Fitzgerald

Kazuhiro Yamakawa

Joris Vriens

Laura Pace

Rachel Gore Moses

Eduard Bakštein

nefize yalin

Andrew Edmondson

Ethan Goldberg

Lucie Delemotte

Rebecca Strawbridge

Stefano Gustincich

Rossana Sanchez Russo

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