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Guy Helman

13PUBLICATIONS

52CO-AUTHORS

Medical devicesNeurogeneticsCardiology (incl. cardiovascular diseases)Medical infection agents (incl. prions)Cell and nuclear division

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Publications (13)

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|Feb 23, 2023

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado

|Aug 10, 2022

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.

Guy Helman, Parand Zarekiani, Samantha A M Tromp

|Jan 13, 2022

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.

Menno D Stellingwerff, Corinne Nulton, Guy Helman

|Aug 20, 2021

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Claire G Salter, Yiying Cai, Bernice Lo

|Nov 10, 2020

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

Guy Helman, Alison G Compton, Daniella H Hock

|Sep 29, 2020

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description.

Guy Helman, Angela N Viaene, Asako Takanohashi

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Frequent Collaborators

6 joint publications

Cas Simons

3 joint publications

Adeline Vanderver

2 joint publications

Nicole I Wolf

2 joint publications

John Christodoulou

2 joint publications

Daniella H Hock

2 joint publications

David A Stroud

2 joint publications

David R Thorburn

2 joint publications

Maha S Zaki

2 joint publications

Henry Houlden

1 joint publications

Johanna L Schmidt

Frequent Collaborators

6 joint publications

Cas Simons

3 joint publications

Adeline Vanderver

2 joint publications

Nicole I Wolf

2 joint publications

John Christodoulou

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