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Helman, Guy
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1

Megalencephalic leukoencephalopathy with subcortical cysts:..:

Passchier, Emma M. J. ; Bisseling, Quinty ; Helman, Guy...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:

Gonzalez, Carlos Dominguez ; Sanderson, Leslie E. ; Depace, Raffaella...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108328 , 2024
Link: https://doi.org/10.1016/..
 
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3

The natural history of variable subtypes in pediatric-onset..:

Vanderver, Adeline ; Gavazzi, Francesco ; Charsar, Brittany...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108271 , 2024
Link: https://doi.org/10.1016/..
 
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4

BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMEN..:

Disanza, Brianna ; Angireddy, Rajesh ; Welter, Emma...
IBRO Neuroscience Reports.  15 (2023)  - p. S86-S87 , 2023
Link: https://doi.org/10.1016/..
 
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5

BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL..:

DiSanza, Brianna ; Simons, Cas ; Helman, Guy...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107403 , 2023
Link: https://doi.org/10.1016/..
 
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6

TEFM variants impair mitochondrial transcription causing ch..:

Van Haute, Lindsey ; O'Connor, Emily ; Díaz-Maldonado, Héctor...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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7

Generation of human induced pluripotential stem cells from ..:

Wu, Kaiyuan ; Takanohashi, Asako ; Woidill, Sarah...
Stem Cell Research.  64 (2022)  - p. 102905 , 2022
Link: https://doi.org/10.1016/..
 
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8

Type II Alexander disease caused by splicing errors and abe..:

Helman, Guy ; Takanohashi, Asako ; Hagemann, Tracy L....
Human Mutation.  43 (2022)  9 - p. 1344-1344 , 2022
Link: https://doi.org/10.1002/..
 
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9

SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syn..:

Takanohashi, Asako ; Alameh, Mohamad-Gabriel ; Woidill, Sarah...
Molecular Genetics and Metabolism.  137 (2022)  4 - p. 320-327 , 2022
Link: https://doi.org/10.1016/..
 
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10

Mainstreaming proteomics into rare disease diagnostics:

Hock, Daniella H. ; Compton, Alison G. ; Amarasekera, Sumudu S.C....
Pathology.  54 (2022)  - p. S17 , 2022
Link: https://doi.org/10.1016/..
 
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11

HeterozygousNOTCH1Variants CauseCNSImmune Activation and Mi..:

Helman, Guy ; Zarekiani, Parand ; Tromp, Samantha A.M....
Annals of Neurology.  92 (2022)  5 - p. 895-901 , 2022
Link: https://doi.org/10.1002/..
 
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12

Aberrant splicing and transcriptional activity of TPP1 resu..:

Helman, Guy ; Taylor, Lauren E. ; Walkiewicz, Marzena...
European Journal of Medical Genetics.  64 (2021)  8 - p. 104259 , 2021
Link: https://doi.org/10.1016/..
 
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13

Biallelic PI4KA variants cause neurological, intestinal and..:

Salter, Claire G ; Cai, Yiying ; Lo, Bernice...
Brain.  144 (2021)  12 - p. 3597-3610 , 2021
Link: https://doi.org/10.1093/..
 
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14

Expanded phenotype of AARS1-related white matter disease:

Helman, Guy ; Mendes, Marisa I. ; Nicita, Francesco...
Genetics in Medicine.  23 (2021)  12 - p. 2352-2359 , 2021
Link: https://doi.org/10.1038/..
 
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15

Further Delineation of the Clinical and Pathologic Features..:

Helman, Guy ; Zerem, Ayelet ; Almad, Akshata...
Pediatric Neurology.  121 (2021)  - p. 11-19 , 2021
Link: https://doi.org/10.1016/..
 
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