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HELBIG, INGO
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1

Biallelic CRELD1 variants cause a multisystem syndrome, inc..:

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty...
Genetics in Medicine.  26 (2024)  2 - p. 101023 , 2024
Link: https://doi.org/10.1016/..
 
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2

101 Predictive Model for Aiding in Early Common Variable Im..:

Alsaati, Nouf ; Penney, Chris ; Helbig, Ingo.
Clinical Immunology.  262 (2024)  - p. 110043 , 2024
Link: https://doi.org/10.1016/..
 
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3

Molecular and cellular context influences SCN8A variant fun..:

Vanoye, Carlos G. ; Abramova, Tatiana V. ; DeKeyser, Jean-Marc...
JCI Insight.  9 (2024)  12 - p. , 2024
Link: https://doi.org/10.1172/..
 
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4

STXBP1: fast-forward to a brighter future – a patient organ..:

Goss, James R. ; Prosser, Benjamin ; Helbig, Ingo.
Therapeutic Advances in Rare Disease.  5 (2024)  - p. , 2024
Link: https://doi.org/10.1177/..
 
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5

Early life seizures and epileptic spasms in STXBP1‐related ..:

Thalwitzer, Kim M. ; Xian, Julie ; de Campo, Danielle...
Epilepsia.  65 (2024)  3 - p. 805-816 , 2024
Link: https://doi.org/10.1111/..
 
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6

Molecular dynamics simulations reveal molecular mechanisms ..:

Bhattarai, Nisha ; Montanucci, Ludovica ; Bruenger, Tobias...
Biophysical Journal.  123 (2024)  3 - p. 109a-110a , 2024
Link: https://doi.org/10.1016/..
 
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7

P151: Enhancing understanding of SCN1A-related disorders th..:

Prentice, Anna ; Cohen, Stacey ; McKeown, Sarah...
Genetics in Medicine Open.  2 (2024)  - p. 101048 , 2024
Link: https://doi.org/10.1016/..
 
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8

Advances in big data and omics: Paving the way for discover..:

Magielski, Jan ; McSalley, Ian ; Parthasarathy, Shridhar...
Current Problems in Pediatric and Adolescent Health Care.  , 2024
Link: https://doi.org/10.1016/..
 
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9

De novo GRIN variants in M3 helix associated with neurologi..:

Xu, Yuchen ; Song, Rui ; Perszyk, Riley E....
Cellular and Molecular Life Sciences.  81 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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10

Expanding the clinical phenotype and variant spectrum assoc..:

Sisroe, Talia ; Santos, Attila Dos ; Rippert, Alyssa L....
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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11

Clinical signatures of genetic epilepsies precede diagnosis..:

Galer, Peter D. ; Parthasarathy, Shridhar ; Xian, Julie...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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12

A structurally precise mechanism links an epilepsy-associat..:

Clatot, Jerome ; Currin, Christopher B. ; Liang, Qiansheng...
Proceedings of the National Academy of Sciences.  121 (2024)  3 - p. , 2024
Link: https://doi.org/10.1073/..
 
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13

P347: RareResolve: Gene-humanized animal models for resolvi..:

Hopkins, Christopher ; Brock, Trisha ; McCormick, Kathryn..
Genetics in Medicine Open.  2 (2024)  - p. 101241 , 2024
Link: https://doi.org/10.1016/..
 
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14

A single-cell transcriptome atlas of glial diversity in the..:

Su, Yijing ; Zhou, Yi ; Bennett, Mariko L....
Cell Stem Cell.  30 (2023)  1 - p. 113 , 2023
Link: https://doi.org/10.1016/..
 
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15

Guardians of the epilepsy genome:

Xian, Julie ; Helbig, Ingo
European Journal of Paediatric Neurology.  42 (2023)  - p. A4-A6 , 2023
Link: https://doi.org/10.1016/..
 
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